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ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase; Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis (592 aa) | |||
NT5C3 | 5’-nucleotidase, cytosolic III (336 aa) | |||
GOT2 | glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2); Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids (430 aa) | |||
NT5C | 5’, 3’-nucleotidase, cytosolic; Dephosphorylates the 5’ and 2’(3’)-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP (201 aa) | |||
ASS1 | argininosuccinate synthase 1; Is indirectly involved in the control of blood pressure (By similarity) (412 aa) | |||
ACY3 | aspartoacylase (aminocyclase) 3; Plays an important role in deacetylating mercapturic acids in kidney proximal tubules (By similarity) (319 aa) | |||
AMPD2 | adenosine monophosphate deaminase 2 (879 aa) | |||
NT5E | 5’-nucleotidase, ecto (CD73); Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities (574 aa) | |||
GMPR | guanosine monophosphate reductase; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides (345 aa) | |||
HPRT1 | hypoxanthine phosphoribosyltransferase 1; Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway (218 aa) | |||
ENTPD3 | ectonucleoside triphosphate diphosphohydrolase 3; Has a threefold preference for the hydrolysis of ATP over ADP (529 aa) | |||
IMPDH2 | IMP (inosine 5’-monophosphate) dehydrogenase 2; Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors (514 aa) | |||
ADSSL1 | adenylosuccinate synthase like 1; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP (By similarity) (500 aa) | |||
ENTPD5 | ectonucleoside triphosphate diphosphohydrolase 5; Uridine diphosphatase (UDPase) that promotes protein N- glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. Also hydrolyzes GDP and IDP but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a ke [...] (428 aa) | |||
NT5C2 | 5’-nucleotidase, cytosolic II; May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5’-monophosphate (IMP) and other purine nucleotides (561 aa) | |||
IL4I1 | interleukin 4 induced 1; Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity) (589 aa) | |||
IMPDH1 | IMP (inosine 5’-monophosphate) dehydrogenase 1; Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors (By similarity) (599 aa) | |||
GOT1 | glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1); Biosynthesis of L-glutamate from L-aspartate or L- cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is conve [...] (413 aa) | |||
ENTPD6 | ectonucleoside triphosphate diphosphohydrolase 6 (putative); Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5’-diphosphates, nucleoside 5’-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5’-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity) (484 aa) | |||
NT5M | 5’,3’-nucleotidase, mitochondrial; Dephosphorylates specifically the 5’ and 2’(3’)- phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP (228 aa) | |||
AMPD3 | adenosine monophosphate deaminase 3; AMP deaminase plays a critical role in energy metabolism (776 aa) | |||
GMPR2 | guanosine monophosphate reductase 2; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. Plays a role in modulating cellular differentiation (366 aa) | |||
NAT8L | N-acetyltransferase 8-like (GCN5-related, putative); Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake (302 aa) | |||
NUDT16 | nudix (nucleoside diphosphate linked moiety X)-type motif 16; RNA-binding and decapping enzyme that catalyzes the cleavage of the cap structure of snoRNAs and mRNAs in a metal- dependent manner. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and/or m227G caps from U8 snoRNA and leaves a 5’monophosphate on the RNA. Catalyzes also the cleavage of the cap structure on mRNAs. Does not hydrolyze cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG). Also hydrolysis m7G- and [...] (227 aa) | |||
AMPD1 | adenosine monophosphate deaminase 1; AMP deaminase plays a critical role in energy metabolism (780 aa) | |||
ENSG00000250741 | NT5C1B-RDH14 readthrough (602 aa) |