Harmonizome 3.0

uridine monophosphate synthetase

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)

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]

biphenyl hydrolase-like (serine hydrolase)

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]

uridine phosphorylase 2

Enables deoxyuridine phosphorylase activity; identical protein binding activity; and uridine phosphorylase activity. Involved in dCMP catabolic process and uridine catabolic process. Located in type III intermediate filament. [provided by Alliance of Genome Resources, Mar 2025]

uridine phosphorylase 1

This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]

uridine-cytidine kinase 1-like 1

The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

uridine-cytidine kinase 1

This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]

uridine-cytidine kinase 2

This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]

cytidine monophosphate (UMP-CMP) kinase 1, cytosolic pseudogene

IMP (inosine 5'-monophosphate) dehydrogenase 1

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

cytidine monophosphate (UMP-CMP) kinase 1, cytosolic

This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]

cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

adenosine monophosphate deaminase 3

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

adenosine monophosphate deaminase 2

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

adenosine monophosphate deaminase 1

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

guanosine monophosphate reductase 2

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

guanosine monophosphate reductase pseudogene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4

IMP (inosine 5'-monophosphate) dehydrogenase 2

This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5

guanosine monophosphate reductase

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]

cytidine monophosphate N-acetylneuraminic acid synthetase

This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

2'-deoxynucleoside 5'-phosphate N-hydrolase 1

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]

hydroxyacylglutathione hydrolase

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]

acylaminoacyl-peptide hydrolase

This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]

ubiquitin carboxyl-terminal hydrolase 17-like protein

acyloxyacyl hydrolase (neutrophil)

This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]

fumarylacetoacetate hydrolase domain containing 2B

Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

fumarylacetoacetate hydrolase domain containing 2A

Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

fatty acid amide hydrolase pseudogene 1

fumarylacetoacetate hydrolase domain containing 1

Enables hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances; oxaloacetate decarboxylase activity; and oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

esterase D/formylglutathione hydrolase pseudogene

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]

leukotriene A4 hydrolase

The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

3-hydroxyisobutyryl-Coenzyme A hydrolase pseudogene

peptidyl-tRNA hydrolase 2

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 hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)

Enables aminoacyl-tRNA hydrolase activity. Involved in rescue of stalled ribosome. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

alpha/beta hydrolase domain-containing protein 17A-like

hydroxyacylglutathione hydrolase-like

Predicted to enable hydroxyacylglutathione hydrolase activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

fatty acid amide hydrolase 2

This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

lipid droplet associated hydrolase

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]

urate (hydroxyiso-) hydrolase, pseudogene

Predicted to enable hydroxyisourate hydrolase activity. Predicted to be involved in several processes, including allantoin metabolic process; nucleobase-containing small molecule metabolic process; and urate catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin carboxyl-terminal hydrolase L5

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]

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

serine hydrolase-like 2

Predicted to enable hydrolase activity. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

folate hydrolase (prostate-specific membrane antigen) 1

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]

neutral cholesterol ester hydrolase 1

Predicted to enable serine hydrolase activity. Predicted to be involved in ether lipid metabolic process. Predicted to act upstream of or within protein dephosphorylation and xenobiotic metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

alpha/beta hydrolase domain-containing protein 17A-like

putative ubiquitin carboxyl-terminal hydrolase 17-like protein 23

hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing

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]

haloacid dehalogenase-like hydrolase domain containing 2

Enables enzyme binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 2

haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 3

haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 1

fumarylacetoacetate hydrolase domain containing 2 pseudogene 1

folate hydrolase 1B

Enables metallocarboxypeptidase activity. Involved in C-terminal protein deglutamylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

epoxide hydrolase 1, microsomal (xenobiotic)

Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]

epoxide hydrolase 2, cytoplasmic

This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

epoxide hydrolase 3

Enables epoxide hydrolase activity. Involved in epoxide metabolic process. Located in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Mar 2025]

epoxide hydrolase 4

Predicted to enable hydrolase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

acyloxyacyl hydrolase (neutrophil)

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]

3-hydroxyisobutyryl-CoA hydrolase

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 hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

haloacid dehalogenase-like hydrolase domain containing 1

This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

haloacid dehalogenase-like hydrolase domain containing 3

Predicted to enable hydrolase activity. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

meprin A, alpha (PABA peptide hydrolase)

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]

bleomycin hydrolase

Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]

oleoyl-ACP hydrolase

Enables fatty acyl-[ACP] hydrolase activity. Involved in medium-chain fatty acid biosynthetic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

serine hydrolase-like (pseudogene)

Predicted to enable hydrolase activity. [provided by Alliance of Genome Resources, Mar 2025]

fumarylacetoacetate hydrolase domain containing 1 pseudogene

fumarylacetoacetate hydrolase (fumarylacetoacetase)

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]

ADP-ribosylarginine hydrolase

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 activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]

peptidyl-tRNA hydrolase domain containing 1

This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]

fumarylacetoacetate hydrolase domain containing 2C, pseudogene

fatty acid amide hydrolase

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]

haloacid dehalogenase like hydrolase domain containing 5

Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ADP-ribosylserine hydrolase

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

nudix hydrolase 4B

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]

nudix hydrolase 16 like 2, pseudogene

acyloxyacyl hydrolase (neutrophil)

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]