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MGP001495

Record overview

MGPD IDMGP001495
Gene ID3251
SpeciesHomo sapiens (Human)
Gene Namehypoxanthine phosphoribosyltransferase 1
Gene Symbol HPRT1
SynonymsHPRT; HGPRT;
Alternate nameshypoxanthine-guanine phosphoribosyltransferase; HGPRTase;
ChromosomeX
Map LocationXq26.1
EC Number2.4.2.8;
SummaryThe 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]
OrthologsView orthologs and multiple alignments for HPRT1

Proteins

hypoxanthine-guanine phosphoribosyltransferase
Refseq ID:NP_000185
Protein GI:4504483
UniProt ID:P00492
mRNA ID:NM_000194
Length:218
RefSeq Status:
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFI
RLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFR
DLNHVCVISETGKAKYKA
 
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