HPRT1

GENE INFORMATION

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Gene name

HPRT1 (HGNC Symbol)

Synonyms

HGPRT, HPRT

Description

hypoxanthine phosphoribosyltransferase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

q26.2

Chromosome location (bp)

133594183 - 133654543

Ensembl

ENSG00000165704 (version 73.37)

Entrez gene

3251

UniProt

P00492 (UniProt - Evidence at protein level)

neXtProt

NX_P00492

Antibodypedia

HPRT1 antibodies
 

PROTEIN VIEW

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HPRT1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HPRT1-001 ENSP00000298556
ENST00000298556
P00492
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