long intergenic non-protein coding RNA 1680


tRNA (uracil-5-)-methyltransferase homolog B

tRNA methyltransferase 2 homolog B (S. cerevisiae)

Mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine in tRNAs and 12S rRNA (PubMed:31948311, PubMed:34556860). Catalyzes the methylation of uridine at position 54 (m5U54) in all tRNAs (PubMed:31948311). Specifically methylates the uridine in position 429 of 12S rRNA (m5U429) (PubMed:31948311). Does not affect RNA stability or mitochondrial translation (PubMed:31948311).


Alpha-aminoadipic semialdehyde synthase, mitochondrial

lysine ketoglutarate reductase/saccharopine dehydrogenase

saccharopine dehydrogenase (NAD(+), L-glutamate-forming)

saccharopine dehydrogenase (NADP(+), L-lysine-forming)

Bifunctional enzyme that catalyzes the first two steps in lysine degradation.


Putative aquaporin. Could form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient.


transfer RNA tryptophan 5 (anticodon CCA)


glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1

solute carrier family 37 (glucose-6-phosphate transporter), member 4

Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:33964207). Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels.


olfactory receptor family 51 subfamily I member 2

olfactory receptor, family 51, subfamily I, member 2

Odorant receptor.


family with sequence similarity 158, member A

Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable).


J region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).


Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:17008884). In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner (PubMed:14506129, PubMed:26905431). In T cells may be involved in regulation of intracellular Ca(2+) signaling (PubMed:17286989). Seems to have an immunomodulatory function in the cornea (By similarity). The function may implicate a possible role as a scavenger receptor for PLAU thereby blocking PLAU-dependent functions of PLAUR such as in cell migration and proliferation (PubMed:25168896).


sperm antigen with calponin homology and coiled-coil domains 1 like

Sperm antigen with calponin homology and coiled-coil domains 1-like

Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration.


coiled-coil-helix-coiled-coil-helix domain containing 10

Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.


heat shock protein 90 alpha family class A member 5, pseudogene

Putative heat shock protein HSP 90-alpha A5

heat shock protein 90kDa alpha (cytosolic), class A member 5, pseudogene

Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins.


endogenous retrovirus group K9, member 8


prostaglandin E receptor 1 (subtype EP1), 42kDa

Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.


Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber (PubMed:37922872). Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex (PubMed:40516528). Together with histone H1-3, histone H1-3 acts as a regulator of splicing, most specifically exon skipping and intron retention events: histone H1-3 has a high affinity for introns and regulates splicing by affecting RNA polymerase II (RNAPII) elongation (PubMed:37922872). Also acts as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).


V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).


lysine rich nucleolar protein 1 pseudogene 2


retinoic acid early transcript 1F pseudogene

retinoic acid early transcript 1F (pseudogene)


TMEM98 pseudogene 1~Name Same As:- HGNC:58645


long intergenic non-protein coding RNA 1430


ankyrin repeat and SOCS box containing 10

ankyrin repeat and SOCS box-containing 10

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.


protein phosphatase 1 regulatory subunit 9B

protein phosphatase 1, regulatory (inhibitor) subunit 9B

protein phosphatase 1, regulatory subunit 9B, spinophilin

Seems to act as a scaffold protein in multiple signaling pathways. Modulates excitatory synaptic transmission and dendritic spine morphology. Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May play an important role in linking the actin cytoskeleton to the plasma membrane at the synaptic junction. Believed to target protein phosphatase 1/PP1 to dendritic spines, which are rich in F-actin, and regulates its specificity toward ion channels and other substrates, such as AMPA-type and NMDA-type glutamate receptors. Plays a role in regulation of G-protein coupled receptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex for dopaminergic neurotransmission through D2 receptors by linking receptors downstream signaling molecules and the actin cytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation of ADRA1B signaling. May confer to Rac signaling specificity by binding to both, RacGEFs and Rac effector proteins. Probably regulates p70 S6 kinase activity by forming a complex with TIAM1 (By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration.


long intergenic non-protein coding RNA 1697


SKI2 homolog, superkiller viralicidic activity 2-like

superkiller viralicidic activity 2 (S. cerevisiae homolog)-like

superkiller viralicidic activity 2-like (S. cerevisiae)

Helicase component of the SKI complex, a multiprotein complex that assists the RNA-degrading exosome during the mRNA decay and quality-control pathways (PubMed:16024656, PubMed:32006463, PubMed:35120588). The SKI complex catalyzes mRNA extraction from 80S ribosomal complexes in the 3'-5' direction and channels mRNA to the cytosolic exosome for degradation (PubMed:32006463, PubMed:35120588). SKI-mediated extraction of mRNA from stalled ribosomes allow binding of the Pelota-HBS1L complex and subsequent ribosome disassembly by ABCE1 for ribosome recycling (PubMed:32006463). In the nucleus, the SKI complex associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C) (PubMed:16024656). May play a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon (PubMed:40441874).


Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.


basic transcription factor 3 pseudogene 13

basic transcription factor 3-like 3, pseudogene


Stimulates, in vitro and in vivo, the GTPase activity of RhoA.


serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4

serpin peptidase inhibitor, clade B (ovalbumin), member 4

May act as a protease inhibitor to modulate the host immune response against tumor cells.


adaptor related protein complex 3 subunit delta 1

Adaptor-related protein complex 3 subunit delta-1

adaptor related protein complex 3 delta 1 subunit

Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity).


immunoglobulin kappa variable 2/OR2-8 (pseudogene)

immunoglobulin kappa variable 2/OR2-8 pseudogene


long intergenic non-protein coding RNA 3074


long intergenic non-protein coding RNA 1648


protein phosphatase 2 regulatory subunit B'''beta

Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753, PubMed:30622739, PubMed:33633399). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (Probable).


May be involved in transcriptional regulation.


Catalyzes the oxidation of cysteine to cysteine sulfinic acid with addition of molecular dioxygen.


Histone chaperone (By similarity). May play a role in cellular differentiation (PubMed:30046127).


HEXDC intronic transcript 1 (non-protein coding)


long intergenic non-protein coding RNA 1948


solute carrier family 5 (glucose activated ion channel), member 4

solute carrier family 5 (low affinity glucose cotransporter), member 4

Does not function as sodium/D-glucose symporter (PubMed:13130073, PubMed:20421923, PubMed:22766068). However, may function as a D-glucose sensor by generating a D-glucose-induced depolarization which is pH-independent, Na(+)-dependent at neutral pH and probably H(+)-dependent at acidic pH (PubMed:13130073, PubMed:17110502, PubMed:20421923, PubMed:22766068).


TRAF2 and NCK-interacting protein kinase

Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322. Activator of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. MAP4Ks act in parallel to and are partially redundant with STK3/MST2 and STK4/MST2 in the phosphorylation and activation of LATS1/2, and establish MAP4Ks as components of the expanded Hippo pathway (PubMed:26437443).


trafficking protein particle complex subunit 11

Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.


mitochondrially encoded cytochrome c oxidase III pseudogene 18


MAS related GPR family member X6, pseudogene


long intergenic non-protein coding RNA 2562


Ankyrin repeat domain-containing protein 1

ankyrin repeat domain 1 (cardiac muscle)

May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.


ATP binding cassette subfamily F member 2

ATP-binding cassette sub-family F member 2

ATP-binding cassette, sub-family F (GCN20), member 2


Orphan receptor. Seems to act through a G(q/11)-mediated pathway.


Testis cancer centrosome-related protein

Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:16949367, PubMed:16964240, PubMed:29779948). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:29779948). The DCX(DCAF12) complex specifically recognizes proteins with a diglutamate (Glu-Glu) at the C-terminus, such as MAGEA3, MAGEA6 and CCT5, leading to their ubiquitination and degradation (PubMed:29779948, PubMed:31267705). Ubiquitination of MAGEA3, MAGEA6 by DCX(DCAF12) complex is required for starvation-induced autophagy (PubMed:31267705). Also directly recognizes the C-terminal glutamate-leucine (Glu-Leu) degron as an alternative degron in proteins such as MOV10, leading to their ubiquitination and degradation. Controls the protein level of MOV10 during spermatogenesis and in T cells, especially after their activation (PubMed:34065512).


MORC2 antisense RNA 1 (non-protein coding)


mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 16


small nuclear ILF3/NF90-associated RNA A8


2-(3-amino-3-carboxypropyl)histidine synthase subunit 1

Ovarian cancer-associated gene 1 protein

diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)

Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:30877278). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Acts as a tumor suppressor (PubMed:10519411).


SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6


long intergenic non-protein coding RNA 2556


solute carrier family 9 (sodium/hydrogen exchanger), isoform 7

solute carrier family 9 (sodium/hydrogen exchanger), member 7

solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7

Golgi Na(+), K(+)/(H+) antiporter. Mediates the electoneutral influx of Na(+) or K(+) in exchange for H(+). May contribute to the regulation of Golgi apparatus volume and pH.


cytochrome P450 family 3 subfamily A member 51, pseudogene

cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene


gamma-aminobutyric acid type A receptor subunit gamma2

Gamma-aminobutyric acid receptor subunit gamma-2

gamma-aminobutyric acid (GABA) A receptor, gamma 2

Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:23909897, PubMed:2538761, PubMed:25489750, PubMed:27864268, PubMed:29950725, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:29950725, PubMed:30602789). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:16412217, PubMed:2538761, PubMed:27864268, PubMed:29950725, PubMed:30602789). Gamma-2/GABRG2-containing GABAARs are found at both synaptic and extrasynaptic sites (By similarity). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:23909897, PubMed:25489750). Extrasynaptic gamma-2-containing receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs function also as histamine receptor where histamine binds at the interface of two neighboring beta subunits and potentiates GABA response in a gamma-2 subunit-controlled manner (By similarity).


tripartite motif containing 60 pseudogene 1, Y-linked

tripartite motif-containing 60 pseudogene 1, Y-linked

tripartite motif-containing 60 pseudogene, Y-linked 1


Neuronal voltage-gated calcium channel gamma-like subunit

Voltage-dependent calcium channel gamma-like subunit

Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity).


Transforming growth factor beta superfamily


acyl-CoA synthetase long chain family member 4

fatty-acid-Coenzyme A ligase, long-chain 4

long-chain fatty-acid-Coenzyme A ligase 4

Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233, PubMed:31061331, PubMed:38720107). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET (PubMed:21242590). Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590). Acts as an activator of ferroptosis by activating polyunsaturated fatty acids, especially arachidonate and adrenate, to their active form, generating the primary lipid-peroxidation substrates that contribute to ferroptosis (PubMed:27842070, PubMed:35027735, PubMed:38720107).


Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123).
Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.


fragile site, folic acid type, rare, fra(9)(q32)


carbohydrate (chondroitin 4) sulfotransferase 11

Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor.


CHD2 adjacent suppressive regulatory RNA

long intergenic non-protein coding RNA 1578


Plasmodium falciparum M17 leucine aminopeptidase


olfactory receptor family 9 subfamily M member 1, pseudogene

olfactory receptor, family 5, subfamily BG, member 1 pseudogene


cell division cycle associated 4 pseudogene 1


SAM domain, SH3 domain and nuclear localization signals 1

Hematopoietic adaptor containing SH3 and SAM domains 1

SAM domain, SH3 domain and nuclear localization signals protein 1

Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2

hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1

nuclear localization signals, SAM and SH3 domain containing 1

Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity).


Golgi associated retrograde protein (GARP) complex


protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 7


Long intergenic noncoding RNA antisense to S1PR1


nuclear-encoded mitochondrial tRNA-Pro (TGG) 1-1

nuclear-encoded mitochondrial transfer RNA-Pro (TGG) 1-1

transfer RNA proline 23 (anticodon UGG) pseudogene


NGF-inducible anti-proliferative protein PC3

nerve growth factor-inducible anti-proliferative

Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth.


Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.


mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 2


V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).


olfactory receptor family 7 subfamily E member 145 pseudogene

olfactory receptor, family 7, subfamily E, member 145 pseudogene


long intergenic non-protein coding RNA 2625


Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, the type-2 receptors act as a primary activin receptors (binds activin-A/INHBA, activin-B/INHBB as well as inhibin-A/INHA-INHBA). The type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor.


RING finger and transmembrane domain-containing protein 2

E3 ubiquitin-protein ligase that negatively regulates IL3-dependent cellular responses through IL3RA ubiquitination and degradation by the proteasome, having an anti-inflammatory effect.


peptidylprolyl isomerase A pseudogene 35


olfactory receptor family 2 subfamily B member 11

olfactory receptor, family 2, subfamily B, member 11

Odorant receptor.


heat shock protein family A (Hsp70) member 8 pseudogene 6


BN51 (BHK21) temperature sensitivity complementing

DNA-directed RNA polymerase III subunit D

DNA-directed RNA polymerase III subunit RPC4

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:12391170, PubMed:20413673, PubMed:33558764, PubMed:34675218, PubMed:35637192). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Assembles with POLR3E/RPC5 forming a subcomplex that binds the Pol III core. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation (By similarity) (PubMed:12391170, PubMed:20413673, PubMed:35637192). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370).


39S ribosomal protein L44, mitochondrial

Component of the 39S subunit of mitochondrial ribosome (PubMed:23315540). May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome (PubMed:23315540).


BMS1, ribosome biogenesis factor pseudogene 18

long intergenic non-protein coding RNA 516


Colon intestine and stomach enriched-protein 1


Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation (By similarity). May also be vasoactive and natriuretic (PubMed:1672777). Acts by specifically binding and stimulating NPR2 to produce cGMP (PubMed:1672777, PubMed:21098034). Binds the clearance receptor NPR3 (PubMed:11533490).


COL4A2 antisense RNA 1 (non-protein coding)


FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 1


Actin related protein 2/3 complex subunits


RNA, U6atac small nuclear 35, pseudogene


high mobility group nucleosome binding domain 1 pseudogene 1

high-mobility group nucleosome binding domain 1 pseudogene 1

high-mobility group nucleosome binding domain 1-like 1


short chain dehydrogenase/reductase family 42E, member 1 pseudogene 2


long intergenic non-protein coding RNA 207


Zinc finger DHHC domain-containing protein 11

Endoplasmic reticulum-localized palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes (By similarity). Has a palmitoyltransferase activity toward NCDN and regulates NCDN association with endosome membranes through this palmitoylation (By similarity). May play a role in cell proliferation (PubMed:28331227).
Also has a palmitoyltransferase activity-independent function in DNA virus-triggered and CGAS-mediated innate immune response (PubMed:28331227). Functions as an adapter that recruits IRF3 to STING1 to promote the activation of that key transcriptional regulator of type I interferon (IFN)-dependent immune response (PubMed:28331227).


long intergenic non-protein coding RNA 1473


May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes.


GABA type A receptor associated protein like 1

GABA(A) receptor-associated protein like 1

GABA(A) receptor-associated protein-like 1

Gamma-aminobutyric acid receptor-associated protein-like 1

Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor (PubMed:16431922). Involved in formation of autophagosomal vacuoles (PubMed:20404487). While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20404487). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006537, PubMed:31006538).


malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))

malic enzyme 1, NADP(+)-dependent, cytosolic

Catalyzes the oxidative decarboxylation of (S)-malate in the presence of NADP(+) and divalent metal ions, and decarboxylation of oxaloacetate.


killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B

Killer cell immunoglobulin-like receptor 2DL5B

Killer cell immunoglobulin-like receptor 2DLX

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B

Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.


BAR/IMD domain containing adaptor protein 2 like 2

BAI1-associated protein 2-like protein 2

BAR/IMD domain-containing adapter protein 2-like 2

Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2

Planar intestinal- and kidney-specific BAR domain protein

planar intestinal- and kidney-specific BAR domain protein

Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity).


Inhibitors of apoptosis (IAP) protein family


aldolase A, fructose-bisphosphate pseudogene 2

aldolase, fructose-bisphosphate A pseudogene 2


dishevelled segment polarity protein 1 pseudogene 1

Putative segment polarity protein dishevelled homolog DVL1P1

Segment polarity protein dishevelled homolog DVL-1-like

dishevelled 1-like 1 (homologous to Drosophila dsh)

dishevelled, dsh homolog 1 (Drosophila) pseudogene 1

dishevelled, dsh homolog 1 (Drosophila)-like 1

May play a role in the signal transduction pathway mediated by multiple Wnt genes.


von Willebrand factor A domain containing 3A

von Willebrand factor A domain-containing protein 3A


NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 2

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2


ASH1 like histone lysine methyltransferase

Absent small and homeotic disks protein 1 homolog

ash1 (absent, small, or homeotic)-like (Drosophila)

Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity).


SPT20 homolog, SAGA complex component like 1

Transcription factor SPT20 homolog-like 1

family with sequence similarity 48, member B1

similar to transcription factor (p38 interacting protein)

suppressor of Ty 20 homolog (S. cerevisiae)-like 1


N-alpha-acetyltransferase 35, NatC auxiliary subunit

Embryonic growth-associated protein homolog

MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)

N(alpha)-acetyltransferase 35, NatC auxiliary subunit

Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues (PubMed:19398576, PubMed:37891180). N-terminal acetylation protects proteins from ubiquitination and degradation by the N-end rule pathway (PubMed:37891180). Involved in regulation of apoptosis and proliferation of smooth muscle cells (PubMed:19398576).


eukaryotic translation initiation factor 2A pseudogene 2


DEAD (Asp-Glu-Ala-As) box polypeptide 19

DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)

dead box protein 5 homolog (S. cerevisiae)

ATP-dependent RNA helicase involved in mRNA export from the nucleus (PubMed:10428971). Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (PubMed:10428971).


poly(ADP-ribose) polymerase family member 4

ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1

ADP-ribosyltransferase diphtheria toxin-like 4

von Willebrand factor A domain containing 5C

Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins.


calcium binding and coiled-coil domain 1

Calcium-binding and coiled-coil domain-containing protein 1

coiled-coil leucine zipper coactivator 1

Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions (By similarity). In association with CCAR1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781).
Seems to enhance inorganic pyrophosphatase thus activating phosphogluomutase (PMG). Probably functions as a component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth.


ArfGAP with GTPase domain, ankyrin repeat and PH domain 13, pseudogene

centaurin, gamma-like family, member 9 pseudogene


Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions. Repressor of YAP1 and WWTR1/TAZ transcription of target genes, potentially via regulation of Hippo signaling-mediated phosphorylation of YAP1 which results in its recruitment to tight junctions (PubMed:21205866).


protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 6

protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6


small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)

Chemokine that acts as a ligand for both CX3CR1 and integrins ITGAV:ITGB3 and ITGA4:ITGB1 (PubMed:12055230, PubMed:21829356, PubMed:23125415, PubMed:9782118, PubMed:9931005). The CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis (PubMed:12055230, PubMed:9024663, PubMed:9177350, PubMed:9782118). Regulates leukocyte adhesion and migration processes at the endothelium (PubMed:9024663, PubMed:9177350). Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner (PubMed:23125415, PubMed:24789099). In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins (PubMed:23125415, PubMed:24789099). In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1 (PubMed:23125415, PubMed:24789099).
(Microbial infection) Mediates the cytoadherence of erythrocytes infected with parasite P.falciparum (strain 3D7) with endothelial cells by interacting with P.falciparum CBP1 and CBP2 expressed at the surface of erythrocytes (PubMed:27653778). The adhesion prevents the elimination of infected erythrocytes by the spleen (Probable).
The soluble form is chemotactic for T-cells and monocytes, but not for neutrophils.
The membrane-bound form promotes adhesion of those leukocytes to endothelial cells.


Progestin and adipoQ receptor family member 2

Progestin and adipoQ receptor family member II

Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:12802337, PubMed:25855295). Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity).


zinc finger DHHC-type palmitoyltransferase 14

DHHC domain-containing cysteine-rich protein 14

Zinc finger DHHC domain-containing protein 14

Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates. May have a palmitoyltransferase activity toward the beta-2 adrenergic receptor/ADRB2 and thereby regulate G protein-coupled receptor signaling (PubMed:27481942). May play a role in cell differentiation and apoptosis (PubMed:21151021, PubMed:24407904).


Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).


long intergenic non-protein coding RNA 994


zinc finger protein interacting with K protein 1 pseudogene 1

zinc finger protein interacting with K protein 1 homolog (mouse) pseudogene 1


long intergenic non-protein coding RNA 1397


DSCAM intronic transcript 1 (non-protein coding)


short chain dehydrogenase/reductase family 16C member 6, pseudogene

short chain dehydrogenase/reductase family 16C, member 6, pseudogene


Filamin mechanobinding actin cross-linking protein

F-actin cross-linking protein (PubMed:30990684). Stabilizes actin and acts as a negative regulator of primary cilium formation (PubMed:32496561). Positively regulates the phosphorylation of both myosin II and protein phosphatase 1 regulatory subunit PPP1R12A/MYPT1 and promotes the assembly of myosin II stacks within actin stress fibers (PubMed:38832964). Inhibits the phosphorylation of myosin light chain MYL9 by DAPK3 and suppresses the constriction velocity of the contractile ring during cytokinesis (PubMed:38009294). Binds to microtubules and promotes epithelial cell apical constriction by up-regulating levels of diphosphorylated myosin light chain (MLC) through microtubule-dependent inhibition of MLC dephosphorylation by myosin phosphatase (By similarity). Involved in regulation of cell migration, nuclear size and centriole number, probably through regulation of the actin cytoskeleton (By similarity). Component of the CERF-1 and CERF-5 chromatin remodeling complexes in embryonic stem cells where it acts to stabilize the complexes (By similarity). Plays a role in embryonic brain and cardiovascular development (By similarity).


long intergenic non-protein coding RNA 1990


heterogeneous nuclear ribonucleoprotein A3 pseudogene 7


eukaryotic translation initiation factor 2 alpha kinase 3

Eukaryotic translation initiation factor 2-alpha kinase 3

Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR) (PubMed:10026192, PubMed:10677345, PubMed:11907036, PubMed:12086964, PubMed:25925385, PubMed:31023583). Key effector of the integrated stress response (ISR) to unfolded proteins: EIF2AK3/PERK specifically recognizes and binds misfolded proteins, leading to its activation and EIF2S1/eIF-2-alpha phosphorylation (PubMed:10677345, PubMed:27917829, PubMed:31023583). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:10026192, PubMed:10677345, PubMed:31023583, PubMed:33384352). The EIF2AK3/PERK-mediated unfolded protein response increases mitochondrial oxidative phosphorylation by promoting ATF4-mediated expression of COX7A2L/SCAF1, thereby increasing formation of respiratory chain supercomplexes (PubMed:31023583). In contrast to most subcellular compartments, mitochondria are protected from the EIF2AK3/PERK-mediated unfolded protein response due to EIF2AK3/PERK inhibition by ATAD3A at mitochondria-endoplasmic reticulum contact sites (PubMed:39116259). In addition to EIF2S1/eIF-2-alpha, also phosphorylates NFE2L2/NRF2 in response to stress, promoting release of NFE2L2/NRF2 from the BCR(KEAP1) complex, leading to nuclear accumulation and activation of NFE2L2/NRF2 (By similarity). Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1) (By similarity). Involved in control of mitochondrial morphology and function (By similarity).


long intergenic non-protein coding RNA 273


tripartite motif containing 77, pseudogene


Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19303846, PubMed:19502360). Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus (By similarity). Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance (PubMed:19303846). Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation (By similarity). Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A (By similarity). Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development (PubMed:19502360). Inhibits ATF4 transcription factor activity in neurons by disrupting ATF4 dimerization and DNA-binding (By similarity). Plays a role, together with PCNT, in the microtubule network formation (PubMed:18955030).


DnaK belongs to the Hsp70 family and is the bacterial homolog of human Hsp70. In particular, DnaK displays up to 70% of sequence identity with respect to the other eukaryotic proteins of this family ,Like all other Hsp70 proteins, DnaK is composed of about 650 residues, arranged in two domains: the nucleotide binding domain (NBD) and the substrate binding domain (SBD), these are connected by a highly flexible linker involved in the allosteric communication between the two domains. When the NBD domain hydrolyses an ATP molecule, the SBD domain assumes a closed conformation, which binds a short extended hydrophobic polypeptide sequence


long intergenic non-protein coding RNA 1764


SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 3

SH3 domain containing GRB2 like 1 pseudogene 3


Haploid germ cell-specific nuclear protein kinase

Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.


Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15610069, PubMed:15907797, PubMed:22745828). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069, PubMed:15907797). Involved in neuronal cell proliferation and differentiation through down-regulation of EGFR/AKT/MAPK and Wnt signaling pathways (PubMed:22745828).


ubiquitin conjugating enzyme E2 F (putative) pseudogene 2


long intergenic non-protein coding RNA 941

lncRNA Inhibit Autophagy in Pulmonary Fibrogenesis


long intergenic non-protein coding RNA 967


nuclear transcription factor, X-box binding 1

Nuclear transcription factor, X box-binding protein 1

Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.


May be involved in transcriptional regulation.


Immune receptor translocation-associated protein 2

Plays an important role in B-cell response to antigen that acts both as a negative or positive coreceptor. Inhibits B-cell receptor (BCR) signaling in the absence of CR2 stimulation but engagement with CR2 and the BCR lead to a superior calcium response compared to CR2 and BCR costimulation (PubMed:30107486). May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells. May play a role in fertilization (By similarity).


membrane integral NOTCH2 associated receptor 1

Major intrinsically disordered Notch2-binding receptor 1

Membrane integral NOTCH2-associated receptor 1

Ubiquitination and mTOR signaling protein

major intrinsically disordered Notch2-associated receptor 1

Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR (PubMed:30080879). Negatively regulates angiogenesis (PubMed:29329397). Negatively regulates cell growth (PubMed:29329397, PubMed:30080879). Negatively regulates neurite outgrowth in hippocampal neurons (By similarity).


nitric oxide synthase 3 (endothelial cell)

Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.
Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway (PubMed:1378832). NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets.


solute carrier family 4 member 1 (Diego blood group)

solute carrier family 4 (anion exchanger), member 1 (Diego blood group)

solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)

Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:10926824, PubMed:14734552, PubMed:1538405, PubMed:16227998, PubMed:20151848, PubMed:24121512, PubMed:28387307, PubMed:35835865). Component of the ankyrin-1 complex of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin (PubMed:1538405, PubMed:20151848, PubMed:35835865). Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine (PubMed:10926824, PubMed:14734552, PubMed:16227998, PubMed:24121512, PubMed:28387307).
(Microbial infection) Acts as a receptor for P.falciparum (isolate 3D7) MSP9 and thus, facilitates merozoite invasion of erythrocytes (PubMed:14630931). Acts as a receptor for P.falciparum (isolate 3D7) MSP1 and thus, facilitates merozoite invasion of erythrocytes (PubMed:12692305).


LAG1 longevity assurance homolog 1 (S. cerevisiae)

Longevity assurance gene 1 protein homolog 1

Sphingoid base N-stearoyltransferase CERS1

longevity assurance (LAG1, S. cerevisiae) homolog 1

Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:23530041, PubMed:24782409, PubMed:26887952, PubMed:31916624). Plays a predominant role in skeletal muscle in regulating C18 ceramide and dihydroceramide levels with an impact on whole-body glucose metabolism and insulin sensitivity. Protects from diet-induced obesity by suppressing the uptake of glucose in multiple organs in a FGF21-dependent way (By similarity). Generates C18 ceramides in the brain, playing a critical role in cerebellar development and Purkinje cell function (By similarity). In response to cellular stress mediates mitophagy, a known defense mechanism against cell transformation and aging. Upon mitochondria fission, generates C18 ceramides that anchor lipidated MAP1LC3B/LC3B-II autophagolysosomes to outer mitochondrial membranes to eliminate damaged mitochondria (PubMed:22922758).


Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes.


SRGAP3 antisense RNA 3 (non-protein coding)


eukaryotic translation initiation factor 1 pseudogene 7


Ras association (RalGDS/AF-6) domain family member 1

Ras association domain-containing protein 1

Potential tumor suppressor. Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage.


Morf4 family associated protein 1 like 1

MORF4 family-associated protein 1-like 1


glutamate ionotropic receptor NMDA type subunit 2C

Glutamate [NMDA] receptor subunit epsilon-3

N-methyl D-aspartate receptor subtype 2C

glutamate receptor, ionotropic, N-methyl D-aspartate 2C

Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:36309015). Participates in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current and long-term synaptic potentiation (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626, PubMed:36309015). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626).


NACHT, LRR and PYD domains-containing protein 9

NACHT, leucine rich repeat and PYD containing 9

Nucleotide-binding oligomerization domain protein 6

nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9

As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments.


RNA binding protein, mRNA processing factor

RNA binding protein with multiple splicing

RNA-binding protein with multiple splicing

RNA binding protein that mediates the regulation of pre-mRNA alternative splicing (AS) (PubMed:24860013, PubMed:26347403). Acts either as activator (FLNB, HSPG2, LIPA1, MYOCD, PTPRF and PPFIBP1) or repressor (TPM1, ACTN1, ITGA7, PIEZO1, LSM14B, MBNL1 and MBML2) of splicing events on specific pre-mRNA targets (By similarity). Together with RNA binding proteins RBFOX2 and MBNL1/2, activates a splicing program associated with differentiated contractile vascular smooth muscle cells (SMC) by regulating AS of numerous pre-mRNA involved in actin cytoskeleton and focal adhesion machineries, suggesting a role in promoting a cell differentiated state (By similarity). Binds to introns, exons and 3'-UTR associated with tandem CAC trinucleotide motifs separated by a variable spacer region, at a minimum as a dimer. The minimal length of RNA required for RBPMS-binding tandem CAC motifs is 15 nt, with spacing ranging from 1 to 9 nt. Can also bind to CA dinucleotide repeats (PubMed:24860013, PubMed:26347403). Mediates repression of TPM1 exon 3 by binding to CAC tandem repeats in the flanking intronic regions, followed by higher-order oligomerization and heterotypic interactions with other splicing regulators including MBNL1 and RBFOX2, which prevents assembly of ATP-dependent splicing complexes (By similarity).
Acts as a regulator of pre-mRNA alternative splicing (AS) (By similarity). Binds mRNA (PubMed:17099224). Regulates AS of ACTN1, FLNB, although with lower efficiency than isoform A / RBPMSA (By similarity). Acts as coactivator of SMAD transcriptional activity in a TGFB1-dependent manner, possibly through increased phosphorylation of SMAD2 and SMAD3 at the C-terminal SSXS regions and promotion of the nuclear accumulation of SMAD proteins (PubMed:17099224).


SLC55 Mitochondrial cation/proton exchangers

Solute carrier family 55, LETM mitochondrial cation/proton exchangers


immunoglobulin heavy variable (II)-40-1 (pseudogene)

immunoglobulin heavy variable (II)-40-1 pseudogene


eukaryotic translation initiation factor 3 subunit M

PCI domain containing 1 (herpesvirus entry mediator)

eukaryotic translation initiation factor 3, subunit M

transport and golgi organization 7 homolog (Drosophila)

Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17403899, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17403899). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773).
(Microbial infection) May favor virus entry in case of infection with herpes simplex virus 1 (HSV1) or herpes simplex virus 2 (HSV2).


SLX1B-SULT1A4 readthrough (NMD candidate)


FOXP1 antisense RNA 1 (non-protein coding)


RNA binding motif protein Y-linked family 2 member E, pseudogene

RNA binding motif protein, Y-linked, family 2, member E pseudogene


Epidermis-specific serine protease-like protein


Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:11719522). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable). Has a higher activity with long-chain diacylglycerols like 1,2-di-(9Z-octadecenoyl)-sn-glycerol compared to 1,2-didecanoyl-sn-glycerol (By similarity). Specifically expressed in brain, it regulates neuron-specific morphological changes including neurite branching and neurite spine formation (By similarity).
Does not associate with membranes but has a diacylglycerol kinase activity.


Ethanolaminephosphotransferase that catalyzes the transfer of phosphoethanolamine (PE) from CDP-ethanolamine to lipid acceptors, the final step in the synthesis of PE via the 'Kennedy' pathway (PubMed:17132865, PubMed:28052917, PubMed:29500230). PE is the second most abundant phospholipid of membranes in mammals and is involved in various membrane-related cellular processes (PubMed:17132865). The enzyme is critical for the synthesis of several PE species and also catalyzes the synthesis of plasmanyl-PE, a lipid required for proper myelination and neurodevelopment, from 1-alkyl-2-acylglycerol (PubMed:29500230).


proteasome 26S subunit, ATPase 1 pseudogene 4

proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 4


Low-density lipoprotein receptor-related protein 12

low density lipoprotein receptor-related protein 12

Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor.


Stellate cell activation-associated protein

stellate cell activation-associated protein

Probable multifunctional globin with a hexacoordinated heme iron required for the catalysis of various reactions depending on redox condition of the cell as well as oxygen availability (PubMed:11893755, PubMed:12359339, PubMed:15165856, PubMed:19147491, PubMed:20511233, PubMed:28393874, PubMed:28671819, PubMed:29128400, PubMed:33576020, PubMed:34930834). Has a nitric oxide dioxygenase (NOD) activity and is most probably involved in cell-mediated and oxygen-dependent nitric oxide consumption (PubMed:19147491, PubMed:20511233, PubMed:28393874, PubMed:28671819). By scavenging this second messenger may regulate several biological processes including endothelium-mediated vasodilation and vascular tone (PubMed:19147491, PubMed:28393874). Under normoxic conditions functions as a nitric oxide dioxygenase (NOD) but under hypoxic conditions the globin may switch its function to that of a nitrite (NO2) reductase (NiR), generating nitric oxide (PubMed:29128400). Could also have peroxidase and superoxide dismutase activities, detoxifying reactive oxygen species and protecting cells against oxidative stress (PubMed:12359339, PubMed:33576020, PubMed:34930834). Also binds dioxygen with low affinity and could function as an oxygen sensor but has probably no function as a respiratory oxygen carrier (PubMed:11893755, PubMed:15299006, PubMed:20553503).


pleckstrin homology, MyTH4 and FERM domain containing H1

Pleckstrin homology domain-containing family H member 1

pleckstrin homology domain containing, family H (with MyTH4 domain) member 1


aldo-keto reductase family 1 member B10 pseudogene 2


Catalyzes the cleavage of thioester bonds from S-palmitoyl-CoA or S-palmitoyl-N-acetylcysteamine (unbranched structures) but does not have activity against palmitoylcysteine or palmitoylated proteins, branched structures or bulky head groups. Conversely, hydrolyzes both long and short chain fatty acyl-CoA substrate.
Catalytically inactive due to lack of active site His-283.


poly(A) binding protein interacting protein 1 pseudogene 1


long intergenic non-protein coding RNA 1162


leucine rich repeat and fibronectin type III domain containing 3

Leucine-rich repeat and fibronectin type-III domain-containing protein 3

fibronectin type III, immunoglobulin and leucine rich repeat domains 1

Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity).


GRP1-associated scaffold protein opposite strand


long intergenic non-protein coding RNA 3183


Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).


Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable).


Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).


Cell division cycle-associated protein 8

Pluripotent embryonic stem cell-related gene 3 protein

Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment-error-correction and chromosome alignment.


Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222).


olfactory receptor family 9 subfamily K member 2

olfactory receptor, family 9, subfamily K, member 2

Odorant receptor.


Small arginine- and glycine-rich protein

small protein rich in arginine and glycine

Plays an important role in the ligand-dependent activation of estrogen receptor target genes (PubMed:19858291). May play a role in the silencing of fetal globin genes (PubMed:20688955). Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP-methylosome complex associated with 5hmC is recruited to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789).
Required for effective mRNA nuclear export and is a component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Stimulates DDX39B ATPase and helicase activities. In cooperation with ALYREF/THOC4 enhances NXF1 RNA binding activity (PubMed:23299939).


solute carrier family 7 member 5 pseudogene 2

Putative L-type amino acid transporter 1-like protein IMAA

solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2


J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).


small nucleolar RNA, C/D box 3 pseudogene 4


Potassium voltage-gated channel subfamily KQT member 3

Voltage-gated potassium channel subunit Kv7.3

potassium channel, voltage gated KQT-like subfamily Q, member 3

potassium voltage-gated channel subfamily Q member 3

potassium voltage-gated channel, KQT-like subfamily, member 3

Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:16319223, PubMed:27564677, PubMed:28793216, PubMed:9872318). M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers (PubMed:14534157, PubMed:16319223, PubMed:27564677, PubMed:9872318). The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs (PubMed:14534157, PubMed:16319223, PubMed:28793216). M-channel is selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) > Rb(+) > Cs(+) > Na(+) (PubMed:28793216). M-channel association with SLC5A3/SMIT1 alters channel ion selectivity, increasing Na(+) and Cs(+) permeation relative to K(+) (PubMed:28793216). Suppressed by activation of M1 muscarinic acetylcholine receptors (PubMed:10713961). KCNQ3 also associates with KCNQ5 to form a functional channel in vitro and may also contribute to the M-current in brain (PubMed:11159685).


purinergic receptor P2X, ligand-gated ion channel, 1

ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and with relatively high calcium permeability (PubMed:10440098, PubMed:15056721, PubMed:20699225, PubMed:8834001, PubMed:8961184). Furthermore, CTP functions as a weak affinity agonist for P2RX1 (PubMed:14699168). Plays a role a role in urogenital, immune and cardiovascular function (By similarity). Specifically, plays an important role in neurogenic contraction of smooth muscle of the vas deferens, and therefore is essential for normal male reproductive function (By similarity). In addition, contributes to smooth muscle contractions of the urinary bladder (By similarity). On platelets, contributes to platelet activation and aggregation and thereby, also to thrombosis (By similarity). On neutrophils, it is involved in chemotaxis and in mitigating the activation of circulating cells (PubMed:19635923).


ciliary rootlet coiled-coil, rootletin pseudogene 5


ADP-ribose/CDP-alcohol diphosphatase, manganese dependent

Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity).


G-patch domain containing 4 (gene/pseudogene)


family with sequence similarity 134 member C

family with sequence similarity 134, member C

Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress (PubMed:34338405). When activated, induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins (PubMed:34338405). Promotes ER membrane curvature and ER tubulation required for subsequent ER fragmentation and engulfment into autophagosomes (PubMed:33826365). Required for collagen quality control in a LIR motif-dependent manner (By similarity). Mediates NRF1-enhanced neurite outgrowth (PubMed:26040720).


DEAD (Asp-Glu-Ala-Asp) box polypeptide 54

Nucleolar RNA helicase that is involved in diverse cellular processes including ribosome biogenesis, DNA damage response, RNA splicing, transcriptional regulation, innate immunity, and nervous system development. Plays an essential role in the formation of the ribosome active site by remodeling rRNA structure and initiating peptidyl transferase center formation (PubMed:38632236). Represses the transcriptional activity of several nuclear receptors. Regulates transcriptome dynamics during DNA damage response. Mechanistically, acts via increased interaction with a well-defined class of pre-mRNAs that contain introns with weak acceptor splice sites, as well as by protein-protein contacts within components of U2 snRNP and spliceosomal B complex. These activities lead to reduced intron retention and enhanced processing rates of its target transcripts (PubMed:28596291). Acts as an inhibitor of type I interferon antiviral response by facilitating ALKBH5-mediated demethylation of specific transcripts (PubMed:40793791). Contributes to central nervous system myelination, likely through regulation of oligodendrocyte differentiation and myelin sheath formation (By similarity).


olfactory receptor family 8 subfamily B member 5 pseudogene

olfactory receptor, family 8, subfamily B, member 5 pseudogene


poly(A) binding protein cytoplasmic 1 pseudogene 12

poly(A) binding protein, cytoplasmic 1 pseudogene 12


Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract.


May be involved in transcriptional regulation.


ribonuclease P/MRP subunit p40 pseudogene 2

ribonuclease P/MRP 40kDa subunit pseudogene 2


olfactory receptor family 51 subfamily A member 8 pseudogene

olfactory receptor, family 51, subfamily A, member 8 pseudogene


Polyunsaturated fatty acid lipoxygenase ALOX12

Catalyzes the regio and stereo-specific incorporation of molecular oxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:17493578, PubMed:18311922, PubMed:1851637, PubMed:32404334, PubMed:8319693, PubMed:8500694). Mainly converts arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate) to the specific bioactive lipid (12S)-hydroperoxyeicosatetraenoate/(12S)-HPETE (PubMed:17493578, PubMed:22984144, PubMed:24282679, PubMed:8319693, PubMed:8500694). Through the production of bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation (PubMed:8319693, PubMed:8500694). It can also catalyze the epoxidation of double bonds of polyunsaturated fatty acids such as (14S)-hydroperoxy-docosahexaenoate/(14S)-HPDHA resulting in the formation of (13S,14S)-epoxy-DHA (PubMed:23504711). Furthermore, it may participate in the sequential oxidations of DHA ((4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate) to generate specialized pro-resolving mediators (SPMs) like resolvin D5 ((7S,17S)-diHPDHA) and (7S,14S)-diHPDHA, that actively down-regulate the immune response and have anti-aggregation properties with platelets (PubMed:32404334). An additional function involves a multistep process by which it transforms leukotriene A4/LTA4 into the bioactive lipids lipoxin A4/LXA4 and lipoxin B4/LXB4, both are vasoactive and LXA4 may regulate neutrophil function via occupancy of specific recognition sites (PubMed:8250832). Can also peroxidize linoleate ((9Z,12Z)-octadecadienoate) to (13S)-hydroperoxyoctadecadienoate/ (13S-HPODE) (By similarity). Due to its role in regulating both the expression of the vascular endothelial growth factor (VEGF, an angiogenic factor involved in the survival and metastasis of solid tumors) and the expression of integrin beta-1 (known to affect tumor cell migration and proliferation), it can be regarded as protumorigenic (PubMed:16638750, PubMed:22237009, PubMed:9751607). Important for cell survival, as it may play a role not only in proliferation but also in the prevention of apoptosis in vascular smooth muscle cells (PubMed:23578768).


olfactory receptor family 7 subfamily D member 2

olfactory receptor, family 7, subfamily D, member 2

Odorant receptor.


family with sequence similarity 247 member A


cation channel sperm associated auxiliary subunit gamma

Cation channel sperm-associated auxiliary subunit gamma

Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization.


ribosomal protein L7 like 1 pseudogene 13

ribosomal protein L7-like 1 pseudogene 13


Synapse differentiation-induced protein 4

interferon induced transmembrane protein domain containing 7

Required to maintain a pool of extrasynaptic AMPA-regulated glutamate receptors (AMPAR) which is necessary for synapse development and function. Regulates basal AMPAR function and synaptic transmission during development but is dispensable at mature hippocampal synapses. Plays a role in regulating basal phosphorylation levels of glutamate receptor GRIA1 and promotes GRIA1 and GRIA2 cell surface expression.


transcription termination factor, RNA polymerase II

DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing.


GRM7 antisense RNA 3 (non-protein coding)


Plasma membrane calcium ATPase-interacting single-PDZ protein

Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10-binding protein TSPAN33.


Cervical cancer 1 proto-oncogene-binding protein KG19

Involved in tumorigenesis and may function by stabilizing p53/TP53.


EYA transcriptional coactivator and phosphatase 1

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Also has phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).


long intergenic non-protein coding RNA 2362

PRC2 associated LncRNA regulating UPR in MM


SPG7 matrix AAA peptidase subunit, paraplegin

Mitochondrial inner membrane m-AAA protease component paraplegin

spastic paraplegia 7 (pure and complicated autosomal recessive)

Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:11549317, PubMed:28396416, PubMed:31097542, PubMed:9635427). SPG7 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (By similarity). The m-AAA protease exerts a dual role in the mitochondrial inner membrane: it mediates the processing of specific regulatory proteins and ensures protein quality control by degrading misfolded polypeptides (By similarity). Mediates protein maturation of the mitochondrial ribosomal subunit MRPL32/bL32m by catalyzing the cleavage of the presequence of MRPL32/bL32m prior to assembly into the mitochondrial ribosome (By similarity). Acts as a regulator of calcium in neurons by mediating degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:28396416, PubMed:31097542). Also regulates mitochondrial calcium by catalyzing degradation of MCU (PubMed:31097542). Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).


immunoglobulin heavy variable 3/OR15-7 (pseudogene)

immunoglobulin heavy variable 3/OR15-7 pseudogene


NADH:ubiquinone oxidoreductase complex assembly factor 7

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7

NADH dehydrogenase [ubiquinone] complex I, assembly factor 7

Protein arginine methyltransferase NDUFAF7, mitochondrial

mitochondrial dysfunction protein A homolog

Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).


cytochrome c oxidase subunit 5B pseudogene 3

cytochrome c oxidase subunit Vb pseudogene 3


synaptonemal complex central element protein 2

Central element synaptonemal complex protein 1

Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity).


RING-type E3 ubiquitin transferase RNF149

E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation.


B lymphoma Mo-MLV insertion region 1 homolog (mouse)

BMI1 proto-oncogene, polycomb ring finger

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:15386022, PubMed:16359901, PubMed:16714294, PubMed:21772249, PubMed:25355358, PubMed:26151332, PubMed:27827373). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022, PubMed:21772249, PubMed:26151332).


peroxisomal 3-oxoacyl-Coenzyme A thiolase

Responsible for the thiolytic cleavage of straight chain 3-keto fatty acyl-CoAs (3-oxoacyl-CoAs) (PubMed:11734571, PubMed:2882519). Plays an important role in fatty acid peroxisomal beta-oxidation (PubMed:11734571, PubMed:2882519). Catalyzes the cleavage of short, medium, long, and very long straight chain 3-oxoacyl-CoAs (PubMed:11734571, PubMed:2882519).


H1FX antisense RNA 1 (non-protein coding)

Putative uncharacterized protein H1-10-AS1


family with sequence similarity 177 member A1 pseudogene 1

family with sequence similarity 177, member A1 pseudogene 1

family with sequence similarity 177, member A2


small inducible cytokine A1 (I-309, homologous to mouse Tca-3)

Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8.


Ubiquitin-like protein that plays a role in cell proliferation and sister chromatid cohesion by associating with spliceosomal proteins (PubMed:25092792). Participates thereby in pre-mRNA splicing by maintaining spliceosome integrity. Promotes the functional integrity of the Fanconi anemia DNA repair pathway by interacting with FANCI component and subsequently mediating the formation of FANCI homodimers (PubMed:25862789). Also plays a protective role against ER stress-induced apoptosis (PubMed:37315790).


long intergenic non-protein coding RNA 1222


High-affinity Fc receptor for immunoglobulin M (IgM), both secreted and membrane-bound IgM (PubMed:19858324, PubMed:22675200, PubMed:36949194, PubMed:37095205). Primarily regulates IgM transport and homeostasis. In lymphoid cells, enables exocytosis of membrane-bound IgM on the plasma membrane as well as endocytosis of IgM-antigen complexes toward lysosomes for degradation. In mucosal epithelium, mediates retrotranscytosis of antigen-IgM complexes across mucosal M cells toward antigen-presenting cells in mucosal lymphoid tissues (PubMed:21908732, PubMed:28230186). Triggers costimulatory signaling and mediates most of IgM effector functions involved in B cell development and primary immune response to infection. Likely limits tonic IgM BCR signaling to self-antigens for proper negative selection of autoreactive B cells in the bone marrow and for the maintenance of regulatory B cell pool in peripheral lymphoid organs. Mediates antibody responses to T cell-dependent and T cell-independent antigens and promotes induction of an efficient neutralizing IgG response. Engages in cross-talk with antigen-receptor signaling via the non-canonical NF-kappa-B, MAP kinases and calcium signaling pathways (PubMed:19858324, PubMed:22675200, PubMed:25601920, PubMed:30840890).


Putative PWWP domain-containing DNA repair factor 4


oxysterol binding protein like 9 pseudogene 3

oxysterol binding protein-like 9 pseudogene 3


NAD(P) dependent steroid dehydrogenase-like

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

short chain dehydrogenase/reductase family 31E, member 1

Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity).


long intergenic non-protein coding RNA 2133


Coiled-coil domain-containing protein 136

Nasopharyngeal carcinoma-associated gene 6 protein

May play a role in acrosome formation in spermatogenesis and in fertilization.


Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate (PubMed:11956206, PubMed:16269826, PubMed:19168031). Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines (PubMed:11956206, PubMed:16269826, PubMed:19168031). Shows a greater preference for D-erythro isomer of ceramides (PubMed:16269826). Binds phosphoinositides (PubMed:19168031).


Myosin heavy chain, cardiac muscle alpha isoform

myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

Muscle contraction.


proteasome 26S subunit, non-ATPase, 2 pseudogene 1


olfactory receptor family 7 subfamily E member 35 pseudogene

olfactory receptor, family 7, subfamily E, member 35 pseudogene


ATP binding cassette subfamily C member 2

ATP-binding cassette sub-family C member 2

ATP-binding cassette, sub-family C (CFTR/MRP), member 2

Canalicular multidrug resistance protein

Canalicular multispecific organic anion transporter 1

Multidrug resistance-associated protein 2

canalicular multispecific organic anion transporter 1

ATP-dependent transporter of the ATP-binding cassette (ABC) family that binds and hydrolyzes ATP to enable active transport of various substrates including many drugs, toxicants and endogenous compound across cell membranes. Transports a wide variety of conjugated organic anions such as sulfate-, glucuronide- and glutathione (GSH)-conjugates of endo- and xenobiotics substrates (PubMed:10220572, PubMed:10421658, PubMed:11500505, PubMed:16332456). Mediates hepatobiliary excretion of mono- and bis-glucuronidated bilirubin molecules and therefore play an important role in bilirubin detoxification (PubMed:10421658). Also mediates hepatobiliary excretion of others glucuronide conjugates such as 17beta-estradiol 17-glucosiduronic acid and leukotriene C4 (PubMed:11500505). Transports sulfated bile salt such as taurolithocholate sulfate (PubMed:16332456). Transports various anticancer drugs, such as anthracycline, vinca alkaloid and methotrexate and HIV-drugs such as protease inhibitors (PubMed:10220572, PubMed:11500505, PubMed:12441801). Confers resistance to several anti-cancer drugs including cisplatin, doxorubicin, epirubicin, methotrexate, etoposide and vincristine (PubMed:10220572, PubMed:11500505).


Lacks dipeptidase activity and is unable to hydrolyze cystinyl-bis-glycine, leukotriene D4 and the beta-lactam antibiotic imipenem (PubMed:32325220). The absence of activity may be due to the inability of asparagine (instead of aspartate found in DPEP1/2) at position 359 to function as the acid/base catalyst and activate the nucleophilic water/hydroxide (PubMed:32325220). A tyrosine (instead of histidine) at position 269 reduces affinity for the beta zinc and may cause substrate steric hindrance (PubMed:32325220).


ubiquitin specific peptidase 9, Y-linked pseudogene 3


F37/Esophageal cancer-related gene-coding leucine-zipper motif

F37/esophageal cancer-related gene-coding leucine-zipper motif

Leucine zipper putative tumor suppressor 1

leucine zipper, putative tumor suppressor 1

Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor.


UDP glucuronosyltransferase family 1 member A7

UDP glycosyltransferase 1 family, polypeptide A7

UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15470161, PubMed:18004212, PubMed:18052087, PubMed:18674515, PubMed:18719240, PubMed:20610558, PubMed:23360619, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:12181437, PubMed:18004212). Catalyzes the glucuronidation of endogenous estrogen hormone epiestradiol (PubMed:18719240). Involved in the glucuronidation of F2-isoprostane (5-epi-5-F2t-IsoP) (PubMed:38211441). Involved in the glucuronidation of the phytochemical ferulic acid at the carboxylic acid group (PubMed:21422672). Also catalyzes the glucuronidation of the isoflavones genistein, daidzein, glycitein, formononetin, biochanin A and prunetin, which are phytoestrogens with anticancer and cardiovascular properties (PubMed:18052087). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist caderastan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515). Involved in the biotransformation of 7-ethyl-10-hydroxycamptothecin (SN-38), the pharmacologically active metabolite of the anticancer drug irinotecan (PubMed:12181437, PubMed:18004212, PubMed:20610558, PubMed:23360619). Also metabolizes mycophenolate, an immunosuppressive agent (PubMed:15470161).
Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1.


mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 25


Electroneutral potassium-chloride cotransporter 3

agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)

solute carrier family 12 (potassium/chloride transporter), member 6

Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell volume homeostasis in single cells (PubMed:16048901, PubMed:27485015).
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901, PubMed:33199848, PubMed:34031912). May contribute to cell volume homeostasis in single cells (Probable).
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable).
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable).
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable).
Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:16048901). May contribute to cell volume homeostasis in single cells (Probable).