| Name |
|---|
NCEH1 Gene
neutral cholesterol ester
Predicted to enable serine |
GGH Gene
gamma-glutamyl This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008] |
BPHL Gene
biphenyl This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] |
CEL Genecarboxyl ester lipase The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008] |
CELP Genecarboxyl ester lipase pseudogene |
CETP Genecholesteryl ester transfer protein, plasma The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] |
GAFA2 GeneFGF-2 activity-associated protein 2 |
GAFA3 GeneFGF-2 activity-associated protein 3 |
LOC129026 Genegamma-glutamyltransferase-like activity 1 pseudogene This pseudogene is similar to the human gene encoding gamma-glutamyltransferase-like activity 1, an enzyme which hydrolyzes the gamma-glutamyl moiety of glutathione and converts leukotriene C4 to leukotriene D4. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008] |
SKIV2L2 Genesuperkiller viralicidic activity 2-like 2 (S. cerevisiae) Enables ATP binding activity and RNA helicase activity. Involved in DNA damage response; RNA catabolic process; and maturation of 5.8S rRNA. Located in nuclear exosome (RNase complex) and nucleoplasm. Part of TRAMP complex and catalytic step 2 spliceosome. Biomarker of amyotrophic lateral sclerosis. [provided by Alliance of Genome Resources, Mar 2025] |
ADNP Geneactivity-dependent neuroprotector homeobox Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] |
MIA3 Genemelanoma inhibitory activity family, member 3 Enables cargo receptor activity. Involved in several processes, including COPII-coated vesicle cargo loading; cell migration involved in sprouting angiogenesis; and regulation of leukocyte migration. Located in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025] |
GNAI2P2 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2 |
GNAI2P1 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1 |
RAMP1 Genereceptor (G protein-coupled) activity modifying protein 1 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] |
RAMP3 Genereceptor (G protein-coupled) activity modifying protein 3 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008] |
RAMP2 Genereceptor (G protein-coupled) activity modifying protein 2 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008] |
SKIV2L Genesuperkiller viralicidic activity 2-like (S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] |
GNAL Geneguanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
CAAP1 Genecaspase activity and apoptosis inhibitor 1 Involved in negative regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025] |
GNAO1 Geneguanine nucleotide binding protein (G protein), alpha activating activity polypeptide O The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] |
GNAT1 Geneguanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] |
GNAT2 Geneguanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] |
MIA2 Genemelanoma inhibitory activity 2 This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016] |
CXCL1 Gene
chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014] |
GNAI2 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
GNAI3 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012] |
GNAI1 Geneguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
MIA Genemelanoma inhibitory activity Predicted to enable growth factor activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within cell-matrix adhesion. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
ARC Geneactivity-regulated cytoskeleton-associated protein Enables mRNA binding activity and structural molecule activity. Involved in cell migration; cytoskeleton organization; and regulation of cell morphogenesis. Located in cytoplasm and plasma membrane. Part of virus-like capsid. [provided by Alliance of Genome Resources, Mar 2025] |
GNGT2 Geneguanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010] |
GNGT1 Geneguanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] |
DNPH1 Gene
2'-deoxynucleoside 5'-phosphate N- This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008] |
HAGH Gene
hydroxyacylglutathione The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] |
APEH Gene
acylaminoacyl-peptide
This gene encodes the enzyme acylpeptide |
USP17L Gene
ubiquitin carboxyl-terminal |
AOAH Gene
acyloxyacyl
This locus encodes both the light and heavy subunits of acyloxyacyl |
FAHD2B Gene
fumarylacetoacetate Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
FAHD2A Gene
fumarylacetoacetate Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
FAAHP1 Gene
fatty acid amide |
FAHD1 Gene
fumarylacetoacetate
Enables |
LOC100421092 Gene
esterase D/formylglutathione |
BAP1 Gene
BRCA1 associated protein-1 (ubiquitin carboxy-terminal
This gene belongs to the ubiquitin C-terminal |
LTA4H Gene
leukotriene A4
The protein encoded by this gene is an enzyme that contains both |
LOC100130748 Gene
3-hydroxyisobutyryl-Coenzyme A |
PTRH2 Gene
peptidyl-tRNA
The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA |
PTRH1 Gene
peptidyl-tRNA
Enables aminoacyl-tRNA |
LOC101059997 Gene
alpha/beta |
HAGHL Gene
hydroxyacylglutathione
Predicted to enable hydroxyacylglutathione |
LOC402329 Gene
ubiquitin carboxyl-terminal |
FAAH2 Gene
fatty acid amide
This gene encodes a fatty acid amide |
LDAH Gene
lipid droplet associated Predicted to enable sterol ester esterase activity. Involved in cholesterol homeostasis and intracellular triglyceride homeostasis. Acts upstream of with a positive effect on lipid droplet fusion. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Mar 2025] |
URAHP Gene
urate (hydroxyiso-)
Predicted to enable hydroxyisourate |
UCHL5 Gene
ubiquitin carboxyl-terminal Enables cysteine-type deubiquitinase activity; endopeptidase inhibitor activity; and proteasome binding activity. Involved in several processes, including positive regulation of smoothened signaling pathway; protein deubiquitination; and regulation of primary metabolic process. Located in cytosol and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025] |
LOC649352 Gene
ubiquitin carboxyl-terminal |
SERHL2 Gene
serine
Predicted to enable |
FOLH1 Gene
folate This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010] |
LOC102723964 Gene
alpha/beta |
LOC105379587 Gene
putative ubiquitin carboxyl-terminal |
HEXDC Gene
hexosaminidase (glycosyl Enables beta-N-acetylhexosaminidase activity. Predicted to be involved in carbohydrate metabolic process. Located in extracellular vesicle. [provided by Alliance of Genome Resources, Mar 2025] |
HDHD2 Gene
haloacid dehalogenase-like Enables enzyme binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
HDHD1P2 Gene
haloacid dehalogenase-like |
HDHD1P3 Gene
haloacid dehalogenase-like |
HDHD1P1 Gene
haloacid dehalogenase-like |
FAHD2P1 Gene
fumarylacetoacetate |
FOLH1B Gene
folate Enables metallocarboxypeptidase activity. Involved in C-terminal protein deglutamylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
EPHX1 Gene
epoxide
Epoxide |
EPHX2 Gene
epoxide
This gene encodes a member of the epoxide |
EPHX3 Gene
epoxide
Enables epoxide |
EPHX4 Gene
epoxide
Predicted to enable |
FAM183B Gene
acyloxyacyl Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Mar 2025] |
HIBCH Gene
3-hydroxyisobutyryl-CoA
This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA |
LOC392187 Gene
ubiquitin carboxyl-terminal |
HDHD1 Gene
haloacid dehalogenase-like
This gene encodes a member of the haloacid dehalogenase-like (HAD) |
HDHD3 Gene
haloacid dehalogenase-like
Predicted to enable |
MEP1A Gene
meprin A, alpha (PABA peptide Enables metallodipeptidase activity. Involved in epidermal growth factor receptor ligand maturation. Located in extracellular exosome. Part of meprin A complex. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
BLMH Gene
bleomycin
Bleomycin |
OLAH Gene
oleoyl-ACP
Enables fatty acyl-[ACP] |
SERHL Gene
serine
Predicted to enable |
LOC100421811 Gene
fumarylacetoacetate |
FAH Gene
fumarylacetoacetate Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Mar 2025] |
ADPRH Gene
ADP-ribosylarginine
The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal |
PTRHD1 Gene
peptidyl-tRNA
This gene encodes the enzyme peptidyl-tRNA |
FAHD2CP Gene
fumarylacetoacetate |
FAAH Gene
fatty acid amide This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008] |
HDHD5 Gene
haloacid dehalogenase like Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
ADPRS Gene
ADP-ribosylserine
This gene encodes a member of the ADP-ribosylglyco |
NUDT4B Gene
nudix Predicted to enable pyrophosphatase activity. Predicted to be involved in diphosphoinositol polyphosphate metabolic process and nucleotide catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT16L2P Gene
nudix |
FAM183BP Gene
acyloxyacyl Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Mar 2025] |