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HPRT1 hypoxanthine phosphoribosyltransferase 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu26272 NM_000194 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu26272C NM_000194 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol HPRT1
Entrez Gene ID 3251
Full Name hypoxanthine phosphoribosyltransferase 1
Synonyms HGPRT, HPRT
General protein information
Preferred Names
hypoxanthine-guanine phosphoribosyltransferase
Names
hypoxanthine-guanine phosphoribosyltransferase
HGPRTase
NP_000185.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq26.1

Summary The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].
Disorder

MIM: 308000

Lesch-Nyhan syndrome, 300322 (3); HPRT-related gout, 300323 (3)

mRNA Protein Product Sequence Price Select
NM_000194, 164518913 NP_000185, 4504483 hypoxanthine-guanine phosphoribosyltransferase ORF Sequence $159.00
KEGG
hsa00230Purine metabolism
hsa00983Drug metabolism - other enzymes
WikiPathways
WP404Nucleotide Metabolism
BIOCYC
META_PWY-6609adenine and adenosine salvage III
HUMAN_PWY-6609adenine and adenosine salvage III
HUMAN_PWY-6620guanine and guanosine salvage I
META_PWY66-409superpathway of purine nucleotide salvage (mammalia)
Reactome
REACT_1923Purine salvage
REACT_522Purine metabolism
REACT_1698Metabolism of nucleotides
REACT_111217Metabolism
Homo sapiens (human)HPRT1NP_000185.1
Pan troglodytes (chimpanzee)HPRT1NP_001104287.1
Macaca mulatta (Rhesus monkey)LOC709186XP_001097691.1
Canis lupus familiaris (dog)HPRT1NP_001003357.1
Bos taurus (cattle)LOC510369XP_002686486.1
Mus musculus (house mouse)HprtNP_038584.2
Rattus norvegicus (Norway rat)Hprt1NP_036715.1
Gallus gallus (chicken)HPRT1NP_990179.1
Danio rerio (zebrafish)hprt1NP_998151.1
Caenorhabditis elegansCELE_Y105E8B.5NP_493545.1
Xenopus (Silurana) tropicalis (western clawed frog)hprt1NP_989312.1
Process
IDNameEvidence
GO:0001975response to amphetamineIEA
GO:0006144purine nucleobase metabolic processTAS
GO:0006164purine nucleotide biosynthetic processIMP
GO:0006166purine ribonucleoside salvageIMP
GO:0006168adenine salvageIBA
GO:0006178guanine salvageIDA
GO:0007625grooming behaviorIEA
GO:0007626locomotory behaviorIEA
GO:0019835cytolysisIEA
GO:0021756striatum developmentIEA
GO:0021895cerebral cortex neuron differentiationIEA
GO:0021954central nervous system neuron developmentIEA
GO:0032263GMP salvageIBA
GO:0032264IMP salvageIBA
GO:0032264IMP salvageIEA
GO:0042417dopamine metabolic processIEA
GO:0043101purine-containing compound salvageTAS
GO:0043103hypoxanthine salvageIDA
GO:0044281small molecule metabolic processTAS
GO:0045964positive regulation of dopamine metabolic processIMP
GO:0046038GMP catabolic processIDA
GO:0046040IMP metabolic processIDA
GO:0046100hypoxanthine metabolic processIMP
GO:0046651lymphocyte proliferationIEA
GO:0048813dendrite morphogenesisIEA
GO:0051289protein homotetramerizationIDA
GO:0051289protein homotetramerizationIPI
GO:0055086nucleobase-containing small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005829cytosolIBA
GO:0005829cytosolTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0000287magnesium ion bindingIDA
GO:0004422hypoxanthine phosphoribosyltransferase activityEXP
GO:0004422hypoxanthine phosphoribosyltransferase activityIDA
GO:0005515protein bindingIPI
GO:0042803protein homodimerization activityIPI
GO:0052657guanine phosphoribosyltransferase activityIDA
GeneCards HPRT1
PDB 1Z7G, 1D6N, 3GGC, 2VFA, 3GGJ, 1BZY, 4IJQ, 4KN6, 1HMP, 3GEP
UniProt P00492
Vega OTTHUMG00000022452
MIM 308000
Ensembl ENSG00000165704
HGNC 5157
HPRD 02388

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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