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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) | |||
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) | |||
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) | |||
NKX2-5 | NK2 homeobox 5; Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity) (324 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) | |||
ELSPBP1 | epididymal sperm binding protein 1; Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity) (223 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) | |||
UBC | ubiquitin C (685 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) | |||
HAND2 | heart and neural crest derivatives expressed 2; Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and nec [...] (217 aa) | |||
ADSS | adenylosuccinate synthase; Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP (By similarity) (456 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) | |||
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) |