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HPRT1 hypoxanthine phosphoribosyltransferase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000194 Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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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?

What is the normal function of the HPRT1 gene?

The HPRT1 gene provides instructions for producing an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme allows cells to recycle purines, a type of building block of DNA and its chemical cousin RNA. Manufacturing purines uses more energy and takes more time than recycling purines, which makes recycling these molecules more efficient. Recycling purines ensures that cells have a plentiful supply of building blocks for the production of DNA and RNA. The process of recycling purines is also known as the purine salvage pathway.

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