Serum prothrombin conversion accelerator

coagulation factor VII (serum prothrombin conversion accelerator)

Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa also converts factor IX to factor IXa in the presence of tissue factor and calcium (PubMed:271951).


SNAP47 antisense RNA 1 (non-protein coding)

SNAP47 intronic transcript 1 (non-protein coding)


NADH:ubiquinone oxidoreductase subunit B4 pseudogene 11


long intergenic non-protein coding RNA 2119


Putative uncharacterized protein ATP1A1-AS1


Tripartite motif-containing protein 49-like protein

Tripartite motif-containing protein 49D1

Tripartite motif-containing protein 49D2

tripartite motif containing 49D2, pseudogene


Long intergenic non-protein coding RNA 1125

long intergenic non-protein coding RNA 1125


olfactory receptor family 2 subfamily T member 32 pseudogene

olfactory receptor, family 2, subfamily T, member 32 pseudogene


fizzy and cell division cycle 20 related 1

fizzy/cell division cycle 20 related 1 (Drosophila)

Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192).


ubiquitin specific peptidase 9, Y-linked pseudogene 7


Phosphatidylinositol glycan anchor biosynthesis


castor homolog 1, zinc finger (Drosophila)

Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441).


Receptor for the C-X-C chemokine CXCL17, which plays a key role in lymphocyte homing (PubMed:39293486, PubMed:40279398). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as RhoA pathway (PubMed:39293486). Activation by CXCL17 on lymphocytes activates the RhoA pathway, which regulates cytoskeletal dynamics and integrins, mediating lymphocyte recruitment into the respiratory, upper gastrointestinal, biliary and genito-urinary tracts (PubMed:39293486).


Zinc finger protein with KRAB and SCAN domains 14

May be involved in transcriptional regulation.


Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation.


glycosyltransferase 8 domain containing 1

Glycosyltransferase 8 domain-containing protein 1

In vitro, catalyzes the transfer of a galactose residue from UDP-galactose onto GalNAc and GlcNAc structures.


ATP synthase membrane subunit f pseudogene 3

ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 3

ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 pseudogene 3

ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 3

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3


BPI fold containing family B member 5, pseudogene


Cas ligand with multiple Src homology (SH) 3 domains

Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260).


Mitochondrial nucleotide transporter subfamily


Leucine-rich repeat flightless-interacting protein 2

leucine rich repeat (in FLII) interacting protein 2

May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.


NFU1 iron-sulfur cluster scaffold pseudogene 1

NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 1


solute carrier family 36 (proton/amino acid symporter), member 4

Uniporter that mediates the transport of neutral amino acids like L-tryptophan, proline and alanine (PubMed:21097500). The transport activity is sodium ions-independent, electroneutral and therefore functions via facilitated diffusion (PubMed:21097500).


180 kDa secretory phospholipase A2 receptor

Receptor for secretory phospholipase A2 (sPLA2). Acts as a receptor for phospholipase sPLA2-IB/PLA2G1B but not sPLA2-IIA/PLA2G2A. Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2-IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the production of lipid mediators, selective release of arachidonic acid in bone marrow-derived mast cells. In neutrophils, binding of sPLA2-IB/PLA2G1B can activate p38 MAPK to stimulate elastase release and cell adhesion. May be involved in responses in pro-inflammatory cytokine productions during endotoxic shock. Also has endocytic properties and rapidly internalizes sPLA2 ligands, which is particularly important for the clearance of extracellular sPLA2s to protect their potent enzymatic activities. The soluble secretory phospholipase A2 receptor form is circulating and acts as a negative regulator of sPLA2 functions by blocking the biological functions of sPLA2-IB/PLA2G1B (PubMed:15611272, PubMed:7721806). In podocytes, binding of sPLA2-IB/PLA2G1B can regulate podocyte survival and glomerular homeostasis (PubMed:25335547).


archain 1 coat protein complex I subunit delta

Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).


Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).


Amine oxidase copper domain-containing protein 1

amiloride binding protein 1 (amine oxidase (copper-containing))

Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:12072962, PubMed:19764817, PubMed:239684, PubMed:8144586). Its preferred substrates are the diamines histamine and 1-methylhistamine and it could therefore play a role in allergic and immune responses (PubMed:12072962). Has a broad specificity for diamines and can also act on cadaverine and putrescine, two products of amino acid catabolism (PubMed:12072962). It could also act on polyamines, like spermidine and spermine though less efficiently, and regulate various biological processes (PubMed:12072962, PubMed:239684).


myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1

Acts as a key chromatin reader in acute myeloid leukemia by recognizing and binding to acetylated histones via its YEATS domain, thereby regulating oncogenic gene transcription.
Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948). Specifically recognizes and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated (PubMed:27105114). Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20) (PubMed:27105114). May play a role in leukemogenic gene transcription (PubMed:39794553).


mitochondrially encoded termination associated sequence

mitochondrially encoded termination associate sequence


Polyunsaturated fatty acid lipoxygenase ALOX15

Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators (PubMed:17052953, PubMed:1944593, PubMed:24282679, PubMed:25293588, PubMed:32404334, PubMed:8334154). It inserts peroxyl groups at C12 or C15 of arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate) producing both 12-hydroperoxyeicosatetraenoate/12-HPETE and 15-hydroperoxyeicosatetraenoate/15-HPETE (PubMed:17052953, PubMed:1944593, PubMed:24282679, PubMed:8334154). It may then act on 12-HPETE to produce hepoxilins, which may show pro-inflammatory properties (By similarity). Can also peroxidize linoleate ((9Z,12Z)-octadecadienoate) to 13-hydroperoxyoctadecadienoate/13-HPODE (PubMed:8334154). 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). Can convert epoxy fatty acids to hydroperoxy-epoxides derivatives followed by an intramolecular nucleophilic substitution leading to the formation of monocyclic endoperoxides (PubMed:25293588). Plays an important role during the maintenance of self-tolerance by peroxidizing membrane-bound phosphatidylethanolamine which can then signal the sorting process for clearance of apoptotic cells during inflammation and prevent an autoimmune response. In addition to its role in the immune and inflammatory responses, this enzyme may play a role in epithelial wound healing in the cornea through production of lipoxin A4 (LXA(4)) and docosahexaenoic acid-derived neuroprotectin D1 (NPD1; 10R,17S-HDHA), both lipid autacoids exhibit anti-inflammatory and neuroprotective properties. Furthermore, it may regulate actin polymerization which is crucial for several biological processes such as the phagocytosis of apoptotic cells. It is also implicated in the generation of endogenous ligands for peroxisome proliferator activated receptor (PPAR-gamma), hence modulating macrophage development and function. It may also exert a negative effect on skeletal development by regulating bone mass through this pathway. As well as participates in ER stress and downstream inflammation in adipocytes, pancreatic islets, and liver (By similarity). Finally, it is also involved in the cellular response to IL13/interleukin-13 (PubMed:21831839).


DEAD (Asp-Glu-Ala-Asp) box polypeptide 31

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31

Probable ATP-dependent RNA helicase DDX31

protein phosphatase 1, regulatory subunit 25

May have DNA helicase activity and RNA helicase activity. Probably have ssDNA and RNA dependent ATPase activity (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 (PubMed:23019224).


Putative uncharacterized protein PAK6-AS1

chromosome 15 putative open reading frame 56


phosphatidylinositol glycan anchor biosynthesis class C

Phosphatidylinositol N-acetylglucosaminyltransferase subunit C

Phosphatidylinositol-glycan biosynthesis class C protein

phosphatidylinositol N-acetylglucosaminyltransferase subunit C

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.


Substrate-recognition component of the mitochondria-localized SCF-FBXL4 ubiquitin E3 ligase complex that plays a role in the restriction of mitophagy by controlling the degradation of BNIP3 and NIX mitophagy receptors (PubMed:36896912, PubMed:38992176). Rescues also mitochondrial injury through reverting hyperactivation of DRP1-mediated mitochondrial fission (By similarity).


poly(A) specific ribonuclease subunit PAN3

PAN2-PAN3 deadenylation complex subunit PAN3

PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)

Poly(A)-nuclease deadenylation complex subunit 3

Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenylation-dependent mRNA decapping and subsequent 5'-3' exonucleolytic degradation by XRN1. PAN3 acts as a regulator for PAN activity, recruiting the catalytic subunit PAN2 to mRNA via its interaction with RNA and PABP, and to miRNA targets via its interaction with GW182 family proteins.
Decreases PAN2-mediated deadenylation, possibly by preventing progression into the second CCR4-NOT mediated stage of biphasic deadenylation. Has a significant effect on mRNA stability, generally stabilizing a subset of the transcriptome. Stabilizes mRNAs degraded by the AU-rich element (ARE)-mediated mRNA decay pathway but promotes degradation of mRNAs by the microRNA-mediated pathway (PubMed:28559491). Its activity influences mRNP remodeling, specifically reducing formation of a subset of P-bodies containing GW220, an isoform of TNRC6A (PubMed:28559491).
Enhances PAN2 deadenylase activity and has an extensive effect on mRNA stability, generally enhancing mRNA decay across the transcriptome by multiple pathways, including the AU-rich element (ARE)-mediated pathway, microRNA-mediated pathway and the nonsense-mediated pathway (NMD) (PubMed:28559491). Its activity is required for efficient P-body formation (PubMed:28559491). May be involved in regulating mRNAs of genes involved in cell cycle progression and cell proliferation (PubMed:28559491).


Large ribosomal subunit protein uL16-like

Testis-specific component of the ribosome, which is required for the transition from prophase to metaphase in male meiosis I (By similarity). Compensates for the inactivated X-linked RPL10 paralog during spermatogenesis (PubMed:12490704). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:32669547). The male germ cell-specific ribosome displays a ribosomal polypeptide exit tunnel of distinct size and charge states compared with the classical ribosome (By similarity). It is responsible for regulating the biosynthesis and folding of a subset of male germ-cell-specific proteins that are essential for the formation of sperm (By similarity).


long intergenic non-protein coding RNA 2604

highly expressed long noncoding RNA in glioblastoma


Plasmodium vivax Ookinete Surface Protein(Pvs25)


mago-nashi homolog 2, proliferation-associated (Drosophila)


hypocretin (orexin) neuropeptide precursor

Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested.
Binds to orexin receptors HCRTR1/OX1R and HCRTR2/OX2R with a high affinity (By similarity). Stimulates food intake (By similarity). Modulates pituitary luteinizing hormone secretion in an ovarian steroid-dependent manner (By similarity).
Binds to orexin receptor HCRTR2/OX2R only (By similarity). Stimulates food intake (By similarity). Modulates pituitary luteinizing hormone secretion in an ovarian steroid-dependent manner (By similarity).


Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.


May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons.


Inflammation-related G-protein coupled receptor EX33

G protein-coupled receptor that responds endogenously to dietary fatty acids or nutrient, specifically medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists (PubMed:16966319). In immune cells, functions as a pro-inflammatory receptor via 6-OAU and promotes the expression of pro-inflammatory mediators such as TNFalpha, IL-6 and IL-12B as well as stimulating chemotactic responses through activation of signaling mediators AKT, ERK and NF-kappa-B (By similarity). In addition, triggers increased bacterial adhesion and phagocytosis in macrophages and regulates pro-inflammatory function via enhancing NLRP3 inflammasome activation (By similarity). Also plays an important role in inflammation by modulating neutrophil functions (By similarity). Mechanistically, promotes neutrophil chemotaxis, reactive oxygen species (ROS) production and degranulation via LYN-AKT/ERK pathway (By similarity). To regulate ROS, communicates with the two formyl peptide receptors FPR2 and FPR1 to control the NADPH oxidase activity in neutrophils (PubMed:33789297).


olfactory receptor family 2 subfamily A member 15 pseudogene

olfactory receptor, family 2, subfamily A, member 15 pseudogene


Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity).


preferentially expressed antigen in melanoma-like


Adapter protein that plays a role downstream of GNA15 to stimulate Ras activation and subsequent phosphorylation of ERK1/2 independently of phospholipase Cbeta signaling (PubMed:12748287, PubMed:21486497). Mechanistically, interacts with GNA15 and SOS2 to form a macromolecular signaling complex which has a high affinity for HRAS (PubMed:20639119). Additionally, participates in signaling via other G-alpha proteins like GNA14, activating NF-kappa-B through Ras and ERK pathways (PubMed:22711498). Beyond signaling, supports protein homeostasis by cooperating with HSP40 in the HSP70 chaperone cycle, promoting protein folding through the regulated dissociation of the HSP70 inhibitor HSPBP1 (PubMed:14503850).


As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration. Required for nuclear migration in retinal photoreceptor progenitors implicating association with cytoplasmic dynein-dynactin and kinesin motor complexes, and probably B-type lamins; SUN1 and SUN2 seem to act redundantly. The SUN1/2:KASH5 LINC complex couples telomeres to microtubules during meiosis; SUN1 and SUN2 seem to act at least partial redundantly. Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis. May also function on endocytic vesicles as a receptor for RAB5-GDP and participate in the activation of RAB5.


Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.


Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation.


transmembrane and ubiquitin like domain containing 2

Transmembrane and ubiquitin-like domain-containing protein 2

transmembrane and ubiquitin-like domain containing 2


Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A

family with sequence similarity 128, member A

mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A

Required for the recruitment and the assembly of the gamma-tubulin ring complex (gTuRC) at the centrosome (PubMed:20360068, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:39321809).


twinfilin, actin-binding protein, homolog 1 (Drosophila)

Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity).


nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14


Lymphocyte antigen 6 complex locus protein G5c

May have a role in hematopoietic cell differentiation.


Mas-related G-protein coupled receptor member X4

Sensory neuron-specific G-protein coupled receptor 5/6

G protein-coupled receptor for bile acids, which is specifically expressed in sensory neurons of dorsal root ganglion and is involved in itch perception (PubMed:31068464, PubMed:31500698, PubMed:34789874, PubMed:38718132, PubMed:39476841). Activated by bile acids, such as deoxycholate, chenodeoxycholate, taurocholate, taurodeoxycholate and taurodeoxycholate (PubMed:31068464, PubMed:31500698, PubMed:39476841). Has a preference for 3-sulfated bile acids, such as deoxycholate 3-sulfate, glycoursodeoxycholate 3-sulfate and tauroursodeoxycholate 3-sulfate, which are present at high level in cholestatic patients with itch symptoms (PubMed:39476841). Bile acid-binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:30768591, PubMed:31068464, PubMed:31500698, PubMed:34789874, PubMed:38718132, PubMed:39476841). MRGPRX4 is coupled to G(q)/G(11) G alpha proteins and activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers that modulate the activity of phosphatidylinositol 3-kinase and promote the release of Ca2+ ions from intracellular stores, respectively (PubMed:30768591, PubMed:31068464, PubMed:31500698, PubMed:34789874, PubMed:38718132, PubMed:39476841).


regulating synaptic membrane exocytosis 3

Regulating synaptic membrane exocytosis protein 3

Regulates synaptic membrane exocytosis.


StAR related lipid transfer domain containing 8

Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5-bisphosphate by PLCD1.


mitochondrially encoded ATP synthase 6 pseudogene 31


destrin (actin depolymerizing factor) pseudogene 4

destrin, actin depolymerizing factor pseudogene 4


Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:17320177, PubMed:7360115). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:12055245, PubMed:2141838, PubMed:9605165). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664).


phenylalanyl-tRNA synthetase subunit beta

Phenylalanyl-tRNA synthetase beta subunit

phenylalanine tRNA ligase 1, beta, cytoplasmic

phenylalanyl-tRNA synthetase-like, beta subunit


Cyclic AMP-dependent transcription factor ATF-6 alpha

cAMP-dependent transcription factor ATF-6 alpha

Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubMed:11158310, PubMed:11779464). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:10564271, PubMed:11158310, PubMed:11779464).
Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR (PubMed:10564271, PubMed:11158310, PubMed:11163209, PubMed:11779464). Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') (PubMed:10564271, PubMed:11158310, PubMed:11779464). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor (PubMed:10564271, PubMed:11158310, PubMed:11779464). May play a role in foveal development and cone function in the retina (PubMed:26029869).


long intergenic non-protein coding RNA 1958


Organic anion/short-chain fatty acid exchanger

solute carrier family 22 (organic anion transporter), member 9

Sodium-independent organic anion transporter, exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones such as estrone 3-sulfate (E1S) and dehydroepiandrosterone sulfate (DHEAS) (PubMed:17393504, PubMed:26239079, PubMed:28945155). Can transport the statin pravastatin and may contribute to its disposition into the hepatocytes when the function of OATPs is compromised (PubMed:26239079). It is specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate (propanoate), butyrate (butanoate) and valerate (pentanoate) (PubMed:17393504). May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs, in particular butanoate, at the sinusoidal membrane of hepatocytes (PubMed:17393504).


Transposon-derived Buster1 transposase-like protein

Zinc finger BED domain-containing protein 5


RAN, member RAS oncogene family pseudogene 4


bromodomain adjacent to zinc finger domain 2A

Bromodomain adjacent to zinc finger domain protein 2A

Transcription termination factor I-interacting protein 5

Regulatory subunit of the ATP-dependent NoRC-1 and NoRC-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:28801535). Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). Directly stimulates the ATPase activity of SMARCA5 in the NoRC-5 ISWI chromatin remodeling complex (PubMed:28801535). The NoRC-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the NoRC-5 ISWI chromatin remodeling complex (PubMed:28801535). Within the NoRC-5 ISWI chromatin remodeling complex, mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing (By similarity). In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription (By similarity). Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on 'Lys-16' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac (By similarity). Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity).


mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 14


Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds equally to alpha-2,3-linked and alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.


May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807).


Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.


TPR repeat-containing big gene cloned at Keio

During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.


msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)

Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specificity facilitated by interaction with PIAS1 (By similarity). Regulates, in a stage-specific manner, a developmental program of gene expression in the fetal tooth bud that controls odontoblast differentiation and proliferation of dental mesenchymal cells (By similarity). At the bud stage, required for mesenchymal molar tooth bud development via facilitating reciprocal signaling between dental epithelial and mesenchymal cells (By similarity). May also regulate expression of Wnt antagonists such as DKK2 and SFPR2 in the developing tooth mesenchyme (By similarity). Required for BMP4 expression in dental mesenchyme cells (By similarity). Also, in response to BMP4, required for BMP4 expression in neighboring dental epithelial cells (By similarity). Required for maximal FGF4-induced expression of SDC1 in dental mesenchyme cells (By similarity). Also in response to SDC1, required for SDC1 expression in neighboring dental epithelial cells (By similarity). At the early bell stage, acts to drive proliferation of dental mesenchyme cells, however during the late bell stage acts as an homeostatic regulator of the cell cycle (By similarity). Regulates proliferation and inhibits premature mesenchymal odontogenesis during the bell stage via inhibition of the Wnt signaling component CTNNB1 and subsequent repression of the odontoblast differentiation factors BMP2, BMP4, LEF1, ALPL and BGLAP/OCN (By similarity). Additionally, required for correct development and fusion of the palatal shelves and embryonic mandibular formation (By similarity). Plays a role in embryonic bone formation of the middle ear, skull and nasal bones (By similarity). Required for correct formation and thickness of the nail plate (By similarity). May play a role in limb-pattern formation (By similarity).


Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adequate mitochondrial function (PubMed:12930833, PubMed:19164547, PubMed:19700766, PubMed:26908608, PubMed:33096711). Its role in cellular physiology is to improve mitochondrial performance (PubMed:32234310). CL is critical for the coassembly of lipids and proteins in mitochondrial membranes, for instance, remodeling of the acyl groups of CL in the mitochondrial inner membrane affects the assembly and stability of respiratory chain complex IV and its supercomplex forms (By similarity). Catalyzes the transacylation between phospholipids and lysophospholipids, with the highest rate being between phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) and CL. Catalyzes both 1-acyl-sn-glycero-3-phosphocholine (lysophosphatidylcholine or LPC) reacylation and PC-CL transacylation, that means, it exchanges acyl groups between CL and PC by a combination of forward and reverse transacylations. Also catalyzes transacylations between other phospholipids such as phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) and CL, between PC and PE, and between PC and phosphatidate (1,2-diacyl-sn-glycero-3-phosphate or PA), although at lower rate. Not regiospecific, it transfers acyl groups into any of the sn-1 and sn-2 positions of the monolysocardiolipin (MLCL), which is an important prerequisite for uniformity and symmetry in CL acyl distribution. Cannot transacylate dilysocardiolipin (DLCL), thus, the role of MLCL is limited to that of an acyl acceptor. CoA-independent, it can reshuffle molecular species within a single phospholipid class. Redistributes fatty acids between MLCL, CL, and other lipids, which prolongs the half-life of CL. Its action is completely reversible, which allows for cyclic changes, such as fission and fusion or bending and flattening of the membrane. Hence, by contributing to the flexibility of the lipid composition, it plays an important role in the dynamics of mitochondria membranes. Essential for the final stage of spermatogenesis, spermatid individualization (By similarity). Required for the initiation of mitophagy (PubMed:33096711). Required to ensure progression of spermatocytes through meiosis (By similarity). Exon 7 of human tafazzin is essential for catalysis (PubMed:19700766).
Catalyzes the transacylation between lysophosphatidate (such as 1-acyl-sn-glycero-3-phosphate) and phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol)) (PubMed:19700766). Contributes to cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) remodeling (PubMed:12930833, PubMed:19700766).
Catalyzes the transacylation between lysophospholipids and phospholipids, and plays a fundamental role in cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) metabolism and remodeling.
Catalytically inactive.
Catalytically inactive.


long intergenic non-protein coding RNA 1341


hypoxia inducible factor 3 subunit alpha

Class E basic helix-loop-helix protein 17

Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression (PubMed:11573933, PubMed:16126907, PubMed:19694616, PubMed:20416395, PubMed:21069422). Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. Plays a role in the development of the cardiorespiratory system. May also be involved in apoptosis (By similarity).
Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation. Also inhibits hypoxia-inducible ARNT-mediated gene expression.
Attenuates the ability of transcription factor HIF1A and EPAS1/HIF2A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation (PubMed:16126907, PubMed:17998805, PubMed:19694616, PubMed:20416395). May act as a tumor suppressor and inhibits malignant cell transformation (PubMed:17998805).
Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.
Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.


interleukin 1 receptor associated kinase 3

Inactive IL-1 receptor-associated kinase 3

Interleukin-1 receptor-associated kinase 3

interleukin-1 receptor-associated kinase 3

Putative inactive protein kinase which regulates signaling downstream of immune receptors including IL1R and Toll-like receptors (PubMed:10383454, PubMed:29686383). Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex (By similarity). Upon IL33-induced lung inflammation, positively regulates expression of IL6, CSF3, CXCL2 and CCL5 mRNAs in dendritic cells (PubMed:29686383).


long intergenic non-protein coding RNA 2328


ATP binding cassette subfamily B member 10 pseudogene 1

ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1

ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 2


Major facilitator superfamily domain-containing protein 7

Myosin light polypeptide 5 regulatory protein

major facilitator superfamily domain containing 7


immunoglobulin lambda variable 3-26 (pseudogene)

immunoglobulin lambda variable 3-26 pseudogene


May be involved in transcriptional regulation.


olfactory receptor family 6 subfamily C member 68

olfactory receptor, family 6, subfamily C, member 68

Odorant receptor.


Membrane-spanning 4-domains subfamily A member 10

membrane-spanning 4-domains, subfamily A, member 10

May be involved in signal transduction as a component of a multimeric receptor complex.


olfactory receptor family 7 subfamily A member 19 pseudogene

olfactory receptor, family 7, subfamily A, member 19 pseudogene


lncRNA in non-homologous end joining pathway 1

Proliferation Associated RNA and Regulator Of Translation

lncRNA in nonhomologous end joining (NHEJ) pathway 1

long intergenic non-protein coding RNA 707


long intergenic non-protein coding RNA 2620


heat shock protein family A (Hsp70) member 8 pseudogene 18

heat shock 70kDa protein 8 pseudogene 18


membrane bound transcription factor peptidase, site 2

Membrane-bound transcription factor site-2 protease

Sterol regulatory element-binding proteins intramembrane protease

keratosis follicularis spinulosa decalvans

membrane-bound transcription factor protease, site 2

sterol regulatory element-binding proteins intramembrane protease

Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894). In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the second step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression (PubMed:16417584).


fragile site, aphidicolin type, common, fra(1)(p21.2)


olfactory receptor family 52 subfamily K member 2

olfactory receptor, family 52, subfamily K, member 2

Odorant receptor.


microtubule associated monooxygenase, calponin and LIM domain containing 2

Molecule interacting with CasL protein 2

Methionine monooxygenase that promotes depolymerization of F-actin by mediating oxidation of residues 'Met-44' and 'Met-47' on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:24440334, PubMed:29343822). Regulates the disassembly of branched actin networks also by oxidizing ARP3B-containing ARP2/3 complexes leading to ARP3B dissociation from the network (PubMed:34106209). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promote SRF:MKL1/MRTF-A-dependent gene transcription. Does not activate SRF:MKL1/MRTF-A through RhoA (PubMed:24440334).


interleukin 1 family, member 6 (epsilon)

Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of pro-inflammatory cytokines such as TNF, IL-8 and IL-6. In cultured monocytes up-regulates expression of IL-1A, IL-1B and IL-6. In myeloid dendritic cells involved in cell maturation by up-regulating surface expression of CD83, CD86 and HLA-DR. In monocyte-derived dendritic cells facilitates dendritic cell maturation and drives T-cell proliferation. May play a role in pro-inflammatory effects in the lung.


Fetal and adult testis-expressed transcript protein

Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis (PubMed:27402544). May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849).


Involved in the targeting and/or fusion of transport vesicles to their target membrane (By similarity). Major SNARE protein of synaptic vesicles which mediates fusion of synaptic vesicles to release neurotransmitters. Essential for fast vesicular exocytosis and activity-dependent neurotransmitter release as well as fast endocytosis that mediates rapid reuse of synaptic vesicles (By similarity) (PubMed:30929742). Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1.


zinc activated ligand-gated ion channel pseudogene 1


ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2

V-type proton ATPase subunit B, brain isoform

Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). In renal intercalated cells, can partially compensate the lack of ATP6V1B1 and mediate secretion of protons (H+) into the urine under base-line conditions but not in conditions of acid load (By similarity).


long intergenic non-protein coding RNA 1650


FHF complex subunit HOOK interacting protein 2B

FHF complex subunit HOOK-interacting protein 2B

family with sequence similarity 160 member B2

Able to activate MAPK/ERK and TGFB signaling pathways (PubMed:22971576). May regulate the activity of genes involved in intestinal barrier function and immunoprotective inflammation (By similarity). May play a role in cell proliferation (PubMed:22971576).


poly(ADP-ribose) polymerase family member 4 pseudogene 3

ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4

poly(ADP-ribose) polymerase family, member 4 pseudogene 3


Membrane-spanning four-domains subfamily A (MS4A) includes B-cell-specific antigen CD20 (MS4A1), high affinity immunoglobulin epsilon receptor beta chain (MS4A2), hematopoietic-cell-specific protein HTm4 (MS4A3), and related proteins. These proteins share a similar structure with four transmembrane domains and have amino acid identities of 25-40%. They are predominantly expressed in hematopoietic cells, but some can be found in other tissues including testis and brain.

MS4A1 (B-lymphocyte antigen CD20) , MS4A2 (high affinity IgE receptor subunit beta) , and MS4A4B have been shown to have an important role in immunity.

Several variants within the MS4A gene cluster have been implicated in Alzheimer's disease.


ETS domain-containing transcription factor

Epithelium-specific Ets transcription factor 3

Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.


lncRNA enhancing IL-6/STAT3 signaling activation 1


Fas associated factor family member 2 pseudogene 1


Cholesterol-binding protein that acts as a regulator of mTORC1 signaling pathway (PubMed:36007018). Acts as a sensor of cholesterol to signal cholesterol sufficiency to mTORC1: in presence of cholesterol, binds cholesterol, leading to disruption of the interaction between the GATOR1 and KICSTOR complexes and promotion of mTORC1 signaling (PubMed:36007018, PubMed:39358511). Upon cholesterol starvation, GPR155/LYCHOS is unable to perturb the association between GATOR1 and KICSTOR, leading to mTORC1 signaling inhibition (PubMed:36007018). Binds indole-3-acetic acid and may play a role in tryptophan metabolism (PubMed:39358511).


olfactory receptor family 51 subfamily C member 1 pseudogene

olfactory receptor, family 51, subfamily C, member 1 pseudogene

Odorant receptor.


NUCB1 antisense RNA 1 (non-protein coding)


Catalyzes the removal of O-acetyl ester groups from position 9 of the free diacetylated sialate N-acetyl-9-O-acetylneuraminate (Neu5,9Ac2) in the cytosol and of the diacetylated sialate residues of sialylglycoconjugates in the lysosomes (Probable). Together with the sialate-O-acetyltransferase they regulate the balance of acetylated sialoglycoconjugates, key players in various processes such as cell-cell interactions, host-pathogen recognition, and tumor antigenicity (PubMed:21803834).


ADP ribosylation factor like GTPase 6 interacting protein 5

ADP-ribosylation factor-like 6 interacting protein 5

ADP-ribosylation factor-like protein 6-interacting protein 5

Cytoskeleton-related vitamin A-responsive protein

Glutamate transporter EAAC1-interacting protein

Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. Plays a role in the retention of SLC1A1/EAAC1 in the endoplasmic reticulum.


mitochondrial translational release factor 1 like pseudogene 1

mitochondrial translational release factor 1-like pseudogene 1


serine peptidase inhibitor, Kunitz type 1

Hepatocyte growth factor activator inhibitor type 1

serine protease inhibitor, Kunitz type 1

Inhibitor of HGFAC (PubMed:9045658). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277). Inhibits serine protease activity of TMPRSS13, via the BPTI/Kunitz inhibitor 1 domain (PubMed:20977675).


membrane associated guanylate kinase, WW and PDZ domain containing 2

Membrane-associated guanylate kinase inverted 2

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth (By similarity). May play a role in regulating activin-mediated signaling in neuronal cells (By similarity). Enhances the ability of PTEN to suppress AKT1 activation (PubMed:10760291). Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis (By similarity).


Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.


Cysteine-rich with EGF-like domain protein 2

Protein disulfide isomerase (By similarity). Might play a role in the unfolded protein response (By similarity). May regulate transport of alpha4-beta2 neuronal acetylcholine receptor (PubMed:16238698).


long intergenic non-protein coding RNA 498


deafness, neurosensory, autosomal recessive, 61

solute carrier family 26 (anion exchanger), member 5

Voltage-sensitive motor protein that drives outer hair cell (OHC) electromotility (eM) and participates in sound amplification in the hearing organ (By similarity). Converts changes in the transmembrane electric potential into mechanical displacements resulting in the coupling of its expansion to movement of a charged voltage sensor across the lipid membrane (By similarity). The nature of the voltage sensor is not completely clear, and two models compete. In the first model, acts as an incomplete transporter where intracellular chloride anion acts as extrinsic voltage sensor that drives conformational change in the protein which is sufficient to produce a length change in the plane of the membrane and hence in the length of the OHC (By similarity). The second model in which multiple charged amino acid residues are distributed at the intracellular and extracellular membrane interfaces that form an intrinsic voltage sensor, whose movement produces the non-linear capacitance (NLC) (PubMed:34390643). However, the effective voltage sensor may be the result of a hybrid voltage sensor, assembled from intrinsic charge (charged residues) and extrinsic charge (bound anion) (By similarity). Notably, binding of anions to the anion-binding pocket partially neutralizes the intrinsic positive charge rather than to form an electrically negative sensor, therefore remaining charge may serve as voltage sensor that, after depolarization, moves from down (expanded state) to up (contracted) conformation, which is accompanied by an eccentric contraction of the intermembrane cross-sectional area of the protein as well as a major increase in the hydrophobic thickness of the protein having as consequences the plasma membrane thickening and the cell contraction after membrane depolarization (PubMed:34390643). The anion-binding pocket transits from the inward-open (Down) state, where it is exposed toward the intracellular solvent in the absence of anion, to the occluded (Up) state upon anion binding (PubMed:34390643). Salicylate competes for the anion-binding site and inhibits the voltage-sensor movement, and therefore inhibits the charge transfer and electromotility by displacing Cl(-) from the anion-binding site and by preventing the structural transitions to the contracted state (PubMed:34390643). In addition, can act as a weak Cl(-)/HCO3(-) antiporter across the cell membrane and so regulate the intracellular pH of the outer hair cells (OHCs), while firstly found as being unable to mediate electrogenic anion transport (By similarity). Moreover, supports a role in cardiac mechanical amplification serving as an elastic element to enhance the actomyosin- based sarcomere contraction system (By similarity).


olfactory receptor family 5 subfamily AC member 1 (gene/pseudogene)

olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene)

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

Odorant receptor.


long intergenic non-protein coding RNA 1410


basic transcription factor 3 pseudogene 9


Mature oligodendrocytes transmembrane protein

protein phosphatase 1, regulatory subunit 153

Regulate neuronals morphology via inhibition of the WAVE regulatory complex (WCR), a complex that controls F-actin cytoskeletal dynamics.


centrosome and spindle pole associated protein 1

Centrosome and spindle pole-associated protein 1

May play a role in cell-cycle-dependent microtubule organization.


nuclear-encoded mitochondrial tRNA-Gln (TTG) 9-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 9-1

transfer RNA glutamine 36 (anticodon UUG) pseudogene


ribosomal RNA processing 9, U3 small nucleolar RNA binding protein

RNA, U3 small nucleolar interacting protein 2

U3 small nucleolar RNA-interacting protein 2

U3 small nucleolar ribonucleoprotein-associated 55 kDa protein

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA (pre-rRNA) (PubMed:26867678). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797).


protein tyrosine phosphatase receptor type H

Receptor-type tyrosine-protein phosphatase H

Stomach cancer-associated protein tyrosine phosphatase 1

Transmembrane-type protein-tyrosine phosphatase type H

Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20 (By similarity).


Chymotrypsin-like elastase family member 3A

chymotrypsin-like elastase family, member 3A

Efficient protease with alanine specificity but only little elastolytic activity.


aryl hydrocarbon receptor nuclear translocator like

Aryl hydrocarbon receptor nuclear translocator-like protein 1

Basic helix-loop-helix ARNT-like protein 1

Class E basic helix-loop-helix protein 5

Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. BMAL1 positively regulates myogenesis and negatively regulates adipogenesis via the transcriptional control of the genes of the canonical Wnt signaling pathway. Plays a role in normal pancreatic beta-cell function; regulates glucose-stimulated insulin secretion via the regulation of antioxidant genes NFE2L2/NRF2 and its targets SESN2, PRDX3, CCLC and CCLM. Negatively regulates the mTORC1 signaling pathway; regulates the expression of MTOR and DEPTOR. Controls diurnal oscillations of Ly6C inflammatory monocytes; rhythmic recruitment of the PRC2 complex imparts diurnal variation to chemokine expression that is necessary to sustain Ly6C monocyte rhythms. Regulates the expression of HSD3B2, STAR, PTGS2, CYP11A1, CYP19A1 and LHCGR in the ovary and also the genes involved in hair growth. Plays an important role in adult hippocampal neurogenesis by regulating the timely entry of neural stem/progenitor cells (NSPCs) into the cell cycle and the number of cell divisions that take place prior to cell-cycle exit. Regulates the circadian expression of CIART and KLF11. The CLOCK-BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The NPAS2-BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. The preferred binding motif for the CLOCK-BMAL1 heterodimer is 5'-CACGTGA-3', which contains a flanking adenine nucleotide at the 3-prime end of the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5'-CAC-3', while BMAL1 binds to the half-site 5'-GTGA-3' (PubMed:23229515). The CLOCK-BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5'-AACGTGA-3' and 5'-CATGTGA-3' (PubMed:23229515). Essential for the rhythmic interaction of CLOCK with ASS1 and plays a critical role in positively regulating CLOCK-mediated acetylation of ASS1 (PubMed:28985504). Plays a role in protecting against lethal sepsis by limiting the expression of immune checkpoint protein CD274 in macrophages in a PKM2-dependent manner (By similarity). Regulates the diurnal rhythms of skeletal muscle metabolism via transcriptional activation of genes promoting triglyceride synthesis (DGAT2) and metabolic efficiency (COQ10B) (By similarity).
(Microbial infection) Regulates SARS coronavirus-2/SARS-CoV-2 entry and replication in lung epithelial cells probably through the post-transcriptional regulation of ACE2 and interferon-stimulated gene expression.


Actin maturation protease that specifically mediates the cleavage of immature acetylated N-terminal actin, thereby contributing to actin maturation (PubMed:36173861). Cleaves N-terminal acetylated methionine of immature cytoplasmic beta- and gamma-actins ACTB and ACTG1 after translation (PubMed:36173861). Cleaves N-terminal acetylated cysteine of muscle alpha-actins ACTA1, ACTC1 and ACTA2 after canonical removal of N-terminal methionine (By similarity).


High sulfur keratin-associated protein 2.2

In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity).


BCL2 interacting protein 3 pseudogene 17

BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 17


Probably plays a role in maintaining homeostasis on mucosal surfaces.


nuclear transport factor 2 like export factor 1 pseudogene 1


Nucleolar pre-ribosomal-associated protein 1

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)


potassium voltage-gated channel subfamily A member 7

Potassium voltage-gated channel subfamily A member 7

Voltage-gated potassium channel subunit Kv1.7

potassium voltage-gated channel, shaker-related subfamily, member 7

Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity).


C-type lectin domain family 15, member A

Killer cell lectin-like receptor subfamily G member 1

killer cell lectin-like receptor subfamily G, member 1

Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells.


rhophilin associated tail protein 1 like

long intergenic non-protein coding RNA 1513

radial spoke head 11 homolog (Chlamydomonas)

rhophilin associated tail protein 1-like

Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation.


immunoglobulin kappa variable 1/OR2-9 (pseudogene)

immunoglobulin kappa variable 1/OR2-9 pseudogene


Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins that are already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CPAP, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 and the Rap inhibitor SIPA1L1 leading to their degradation by the proteasome. Conversely, phosphorylates the Rap activator RAPGEF2 and the Ras inhibitor SYNGAP1, promoting their activity. Also regulates synaptic plasticity independently of kinase activity, via its interaction with NSF that disrupts the interaction between NSF and the GRIA2 subunit of AMPARs, leading to a rapid rundown of AMPAR-mediated current that occludes long term depression. Required for procentriole formation and centriole duplication by phosphorylating CPAP and NPM1, respectively. Its induction by p53/TP53 suggests that it may participate in the mitotic checkpoint following stress.


serine/threonine kinase 36 (fused homolog, Drosophila)

Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function. Essential for construction of the central pair apparatus of motile cilia.


family with sequence similarity 98 member C

family with sequence similarity 98, member C


pyrroline-5-carboxylate reductase family member 2

Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:23024808, PubMed:2722838, PubMed:6894153). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:23024808, PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492). In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+) (PubMed:2722838, PubMed:6894153).


PAP-associated domain-containing protein 4

poly(A) RNA polymerase D4, non-canonical

Cytoplasmic poly(A) RNA polymerase that adds successive AMP monomers to the 3'-end of specific RNAs, forming a poly(A) tail (PubMed:15070731, PubMed:31792053). In contrast to the canonical nuclear poly(A) RNA polymerase, it only adds poly(A) to selected cytoplasmic mRNAs (PubMed:15070731). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Adds a single nucleotide to the 3' end of specific miRNAs, monoadenylation stabilizes and prolongs the activity of some but not all miRNAs (PubMed:23200856, PubMed:31792053).


nascent polypeptide associated complex alpha subunit pseudogene 5

nascent-polypeptide-associated complex alpha polypeptide pseudogene 5


Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.


phosphatidylinositol glycan anchor biosynthesis class A

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A

Phosphatidylinositol-glycan biosynthesis class A protein

phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)

Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.


MTUS2 antisense RNA 1 (non-protein coding)


BTB and kelch domain-containing protein 5


ADP-ribosyltransferase C2 and C3 toxin-like 5


long intergenic non-protein coding RNA 1186


immunoglobulin heavy variable (II)-15-1 (pseudogene)

immunoglobulin heavy variable (II)-15-1 pseudogene


Prolow-density lipoprotein receptor-related protein 1

low density lipoprotein receptor-related protein 1

transforming growth factor-β receptor type V

Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells (PubMed:11907044, PubMed:12713657). Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. Acts as an LRPAP1 alpha-2-macroglobulin receptor (PubMed:1702392, PubMed:26142438). Acts as TAU/MAPT receptor and controls the endocytosis of TAU/MAPT as well as its subsequent spread (PubMed:32296178). May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:12888553). Also acts as a receptor for IGFBP3 to mediate cell growth inhibition (PubMed:9252371).
(Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A.


Suppressor of variegation 4-20 homolog 1

[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B

[histone H4]-lysine20 N-methyltransferase KMT5B

lysine (K)-specific methyltransferase 5B

suppressor of variegation 4-20 homolog 1 (Drosophila)

Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity (PubMed:24396869, PubMed:28114273). In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes (PubMed:24396869). H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3 (PubMed:23720823). Facilitates TP53BP1 foci formation upon DNA damage and proficient non-homologous end-joining (NHEJ)-directed DNA repair by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (PubMed:28114273). May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity).


Involved in the early part of the secretory pathway.


long intergenic non-protein coding RNA 556


Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling. During ubiquitination, the acceptor ubiquitin is positioned in the active site via direct interaction with the E2 ubiquitin-conjugating enzymes such as UBE2R2 (PubMed:38326650). As a monoubiquitin, its C-terminal glycine is recognized as a C-degron by Cul2-RING (CRL2) E3 ubiquitin-protein ligase complexes (PubMed:39548056).


maestro heat like repeat family member 2B

Maestro heat-like repeat-containing protein family member 2B

maestro heat-like repeat family member 2B

May play a role in the process of sperm capacitation.


Diacylglycerol O-acyltransferase candidate 7

Diacylglycerol acyltransferase 2-like protein 7

Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705).


May be involved in transcriptional regulation. Is required for the differentiation of KISS1-expressing neurons in the arcuate (Arc) nucleus of the hypothalamus. Is a critical regulator of GABAergic cell fate in the cerebellum, required for normal postnatal cerebellar development (By similarity).


leukocyte immunoglobulin like receptor A5

Leukocyte immunoglobulin-like receptor 9

Leukocyte immunoglobulin-like receptor subfamily A member 5

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5

May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition.


T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).


trafficking protein particle complex subunit 1

May play a role in vesicular transport from endoplasmic reticulum to Golgi.


PH, SEC7 and coiled-coil domain-containing protein 4

pleckstrin homology, Sec7 and coiled-coil domains 4

pleckstrin homology, Sec7 and coiled/coil domains 4

Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.


essential meiotic structure-specific endonuclease subunit 2

Essential meiotic structure-specific endonuclease subunit 2

SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)

Structure-specific endonuclease subunit EME2

essential meiotic endonuclease 1 homolog 2 (S. pombe)

Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME2 which is involved in the maintenance of genome stability. In the complex, EME2 is required for DNA cleavage, participating in DNA recognition and bending (PubMed:17289582, PubMed:24371268, PubMed:24813886, PubMed:35290797). MUS81-EME2 cleaves 3'-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5' flaps and nicked double-stranded DNAs (PubMed:24371268). MUS81-EME2 which is active during the replication of DNA is more specifically involved in replication fork processing (PubMed:17289582, PubMed:24813886). Replication forks frequently encounter obstacles to their passage, including DNA base lesions, DNA interstrand cross-links, difficult-to-replicate sequences, transcription bubbles, or tightly bound proteins. One mechanism for the restart of a stalled replication fork involves nucleolytic cleavage mediated by the MUS81-EME2 endonuclease. By acting upon the stalled fork, MUS81-EME2 generates a DNA double-strand break (DSB) that can be repaired by homologous recombination, leading to the restoration of an active fork (PubMed:24813886). MUS81-EME2 could also function in telomere maintenance (PubMed:24813886).


long intergenic non-protein coding RNA 1704


hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2


tumor protein, translationally-controlled 1 pseudogene 5


Pterin-dependent aromatic amino acid hydroxylases

phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase family


family with sequence similarity 116, member A

Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes.


ciliary rootlet coiled-coil, rootletin pseudogene 4


Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism.


fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)

fission 1 (mitochondrial outer membrane) homolog (yeast)

Involved in the fragmentation of the mitochondrial network and its perinuclear clustering (PubMed:12783892, PubMed:12861026, PubMed:14996942, PubMed:23283981). Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission (PubMed:12861026, PubMed:16118244, PubMed:23283981, PubMed:23530241, PubMed:24196833). May not be essential for the assembly of functional fission complexes and the subsequent membrane scission event (PubMed:23530241, PubMed:24196833). Also mediates peroxisomal fission (PubMed:16107562). May act when the products of fission are directed toward mitochondrial homeostasis, mitophagy, or apoptosis (PubMed:24196833). Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis (PubMed:12783892).


long intergenic non-protein coding RNA 2107


long intergenic non-protein coding RNA 2557


solute carrier organic anion transporter family member 1C1

Organic anion transporter polypeptide-related protein 5

Organic anion-transporting polypeptide 14

Solute carrier organic anion transporter family member 1C1

solute carrier family 21 (organic anion transporter), member 14

solute carrier organic anion transporter family, member 1C1

Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones L-thyroxine (T4), L-thyroxine sulfate (T4S), and 3,3',5'-triiodo-L-thyronine (reverse T3, rT3) at the plasma membrane (PubMed:12351693, PubMed:18566113, PubMed:19129463). Regulates T4 levels in different brain regions by transporting T4, and also by serving as an export pump for T4S, which is a source of T4 after hydrolysis by local sulfatases (PubMed:18566113). Increases the access of these substrates to the intracellular sites where they are metabolized by the deiodinases (PubMed:18566113). Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol (17beta-estradiol 17-O-(beta-D-glucuronate)), estrone-3-sulfate (E1S) and sulfobromophthalein (BSP) are transported with much lower efficiency (PubMed:12351693, PubMed:19129463). Transports T4 and E1S in a pH-insensitive manner (PubMed:19129463). Facilitates the transport of thyroid hormones across the blood-brain barrier and into glia and neuronal cells in the brain (PubMed:30296914).


Apoptosis-inducing TAF9-like domain-containing protein 1

FANCM-interacting histone fold protein 1

Fanconi anemia-associated polypeptide of 16 kDa

DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM (PubMed:20347428, PubMed:20347429). In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428). In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:22304917). DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347428, PubMed:20347429).


Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858).


CDC28 protein kinase regulatory subunit 1B pseudogene 4


UDP glucuronosyltransferase family 2 member A3 pseudogene 7

UDP glucuronosyltransferase 2 family, polypeptide A3 pseudogene 7


A-kinase anchor protein 1, mitochondrial

Dual specificity A-kinase-anchoring protein 1

dual specificity A-kinase-anchoring protein 1

protein phosphatase 1, regulatory subunit 43

Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane (By similarity). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Promotes translocation of NDUFS1 into mitochondria to regulate mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) activity (By similarity).


ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)

spinocerebellar ataxia, autosomal recessive 7

Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966).


mitochondrially encoded cytochrome c oxidase I pseudogene 14


olfactory receptor family 51 subfamily AB member 1 pseudogene

olfactory receptor, family 51, subfamily AB, member 1 pseudogene


Ribosomal RNA-processing protein 7 homolog A

ribosomal RNA processing 7 homolog A (S. cerevisiae)

Nucleolar protein that is involved in ribosomal RNA (rRNA) processing (PubMed:33199730). Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development (PubMed:33199730). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797).


solute carrier family 7 (cationic amino acid transporter, y+ system), member 3

Uniporter that mediates the uptake of cationic L-amino acids such as L-arginine, L-lysine and L-ornithine (PubMed:11591158). The transport is sodium ions- and pH-independent, moderately trans-stimulated and is mediated by passive diffusion (PubMed:11591158).


Zinc finger TRAF-type-containing protein 1

zinc finger TRAF-type and ring finger containing 1


NCBP2 antisense RNA 1 (non-protein coding)


interferon regulatory factor 2 binding protein like

Interferon regulatory factor 2-binding protein-like

Probable E3 ubiquitin-protein ligase IRF2BPL

interferon regulatory factor 2 binding protein-like

Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity).


Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis.


Part of a ribosome quality control that mediates surveillance of ribosome assembly and promotes degradation of ribosomes with assembly defects.


mitochondrially encoded ATP synthase 6 pseudogene 14


Cytosolic carboxypeptidase-like protein 5

Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Cleaves alpha- and gamma-linked polyglutamate tubulin side-chain, as well as the branching point glutamate. Also catalyzes the removal of alpha-linked glutamate residues from the carboxy-terminus of alpha-tubulin. Mediates deglutamylation of nucleotidyltransferase CGAS, leading to CGAS antiviral defense response activation.


fragile site, folic acid type, rare, fra(8)(q22.3)


mitochondrially encoded cytochrome c oxidase I pseudogene 43


Endocrine gland-derived vascular endothelial growth factor

Endocrine-gland-derived vascular endothelial growth factor

Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. May play a role in placentation. May play a role in normal and pathological testis angiogenesis.


Brain-expressed protein associating with Nedd4 homolog


purinergic receptor P2Y, G-protein coupled, 13

Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system.


Leucine-rich repeat-containing protein 56

Required for the assembly of dynein arms.


ubiquitin conjugating enzyme E2 V1 pseudogene 15


IgA-inducing protein homolog (Bos taurus)

Enhances IgA secretion from B-cells stimulated via CD40.


high mobility group nucleosome binding domain 1 pseudogene 15

high-mobility group nucleosome binding domain 1 pseudogene 15


heterogeneous nuclear ribonucleoprotein D pseudogene 1

heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1

heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD) pseudogene


methyl-CpG binding domain protein 3 like 2

Methyl-CpG-binding domain protein 3-like 2

May displace the NuRD complex from chromatin.


carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2

Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N- and O-linked glycans and within O-linked mucin-type glycans (PubMed:11042394, PubMed:11726653, PubMed:35939855, PubMed:38034954, PubMed:9722682). Selectively transfers the sulfate group onto the terminal GlcNAc of alpha1,3-Man or alpha1,6-Man antenna of complex-type N-glycans depending on glycan composition. Only sulfates terminal GlcNAc of alpha1,3-Man antenna of G0 complex-type N-glycans. Can sulfate keratan-type N-acetyllactosamine (LacNAc) repeats generating epitopes for self versus non-self immune recognition by C-type lectins (PubMed:35939855, PubMed:38034954). Transfers the sulfate group primarily on core 2 GlcNAcbeta1-6(Galbeta1-3)GalNAcalpha-Ser/Thr and with lower efficiency on extended core 1 GlcNAcbeta1-3Galbeta1-3GalNAcalpha-Ser/Thr based O-linked glycans on peripheral node addressins (PNAds) expressed on the lumenal side of high endothelial venules (HEVs). Shares substrate specificity with CHST4 and both contribute to generate sialyl 6-sulfo Lewis X determinant (also known as MECA-79 epitope) for SELL recognition, a prerequisite for continuous lymphocyte homing into peripheral lymph nodes and antigen immune surveillance (By similarity) (PubMed:9722682). Has no activity toward alpha-linked GlcNAc moiety exposed at the non-reducing ends or to internally located GlcNAc residues (PubMed:11042394).


chondroitin sulfate proteoglycan family member 4B, pseudogene


May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9-hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton-sensing activity.


long intergenic non-protein coding RNA 3116


taste receptor, type 2, member 64 pseudogene

taste receptor, type 2, member 64, pseudogene


nuclear-encoded mitochondrial tRNA-Gln (TTG) 7-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 7-1

transfer RNA glutamine 34 (anticodon UUG) pseudogene


Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells.


heat shock protein family D (Hsp60) member 1 pseudogene 1

heat shock 60kDa protein 1 (chaperonin) pseudogene 1


Peptidyl-prolyl cis-trans isomerase-like 3

peptidylprolyl isomerase (cyclophilin)-like 3

PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing.


abhydrolase domain containing 2, acylglycerol lipase

Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester (PubMed:27247428). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity).


ATP binding cassette subfamily A member 7

ATP-binding cassette sub-family A member 7

ATP-binding cassette, sub-family A (ABC1), member 7

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine (PubMed:24097981). Plays a role in lipid homeostasis and macrophage-mediated phagocytosis (PubMed:12917409, PubMed:12925201, PubMed:14570867, PubMed:14592415). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells (PubMed:12917409, PubMed:14570867, PubMed:14592415). May also mediate cholesterol efflux (PubMed:14570867). May regulate cellular ceramide homeostasis during keratinocyte differentiation (PubMed:12925201). Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing (PubMed:26260791). Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients (PubMed:26260791).


olfactory receptor family 4 subfamily D member 11

olfactory receptor, family 4, subfamily D, member 11

Odorant receptor.


Immune receptor translocation-associated protein 1

May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response.


nuclear receptor subfamily 0 group B member 1

DSS-AHC critical region on the X chromosome protein 1

nuclear receptor subfamily 0, group B, member 1

Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis (PubMed:7990953, PubMed:8675564). May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).


GrpE-like 2, mitochondrial (E. coli) pseudogene 3