HPRT1 hypoxanthine phosphoribosyltransferase 1 [Homo sapiens (human)]

Gene Symbol	HPRT1
Entrez Gene ID	3251
Full Name	hypoxanthine phosphoribosyltransferase 1
Synonyms	HGPRT, HPRT
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:X Map Location: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.
Disorder	MIM: 308000 Lesch-Nyhan syndrome, 300322 (3); HPRT-related gout, 300323 (3)

mRNA	NM_000194, 164518913
Protein	NP_000185, 4504483
Product	hypoxanthine-guanine phosphoribosyltransferase
RefSeq Status	REVIEWED

KEGG

hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes

WikiPathways

WP404

Nucleotide Metabolism

Reactome

Homo sapiens (human)	HPRT1	NP_000185.1
Pan troglodytes (chimpanzee)	HPRT1	XP_001135524.1
Canis lupus familiaris (dog)	HPRT1	NP_001003357.1
Bos taurus (cattle)	HPRT1	NP_001029207.1
Mus musculus (house mouse)	Hprt	NP_038584.2
Rattus norvegicus (Norway rat)	Hprt1	NP_036715.1
Gallus gallus (chicken)	HPRT1	NP_990179.1
Danio rerio (zebrafish)	hprt1	NP_998151.1
Caenorhabditis elegans	Y105E8B.5	NP_493545.1

Process

ID	Name	Evidence
GO:0001975	response to amphetamine	ISS
GO:0006144	purine base metabolic process	TAS
GO:0006164	purine nucleotide biosynthetic process	IMP
GO:0006166	purine ribonucleoside salvage	IMP
GO:0006168	adenine salvage	ISS
GO:0006178	guanine salvage	IDA
GO:0007283	spermatogenesis	IEA
GO:0007610	behavior	IMP
GO:0007625	grooming behavior	ISS
GO:0009116	nucleoside metabolic process	IEA
GO:0019255	glucose 1-phosphate metabolic process	ISS
GO:0019835	cytolysis	ISS
GO:0021756	striatum development	ISS
GO:0021895	cerebral cortex neuron differentiation	ISS
GO:0021954	central nervous system neuron development	ISS
GO:0032263	GMP salvage	ISS
GO:0032264	IMP salvage	ISS
GO:0043101	purine-containing compound salvage	TAS
GO:0043103	hypoxanthine salvage	IDA
GO:0045964	positive regulation of dopamine metabolic process	IMP
GO:0046038	GMP catabolic process	IDA
GO:0046040	IMP metabolic process	IDA
GO:0046083	adenine metabolic process	IEA
GO:0046100	hypoxanthine metabolic process	IMP
GO:0046651	lymphocyte proliferation	ISS
GO:0048813	dendrite morphogenesis	ISS
GO:0051289	protein homotetramerization	IDA
GO:0051289	protein homotetramerization	IPI
GO:0055086	nucleobase, nucleoside and nucleotide metabolic process	TAS

Component

Function

ID	Name	Evidence
GO:0000166	nucleotide binding	IEA
GO:0000287	magnesium ion binding	IDA
GO:0004422	hypoxanthine phosphoribosyltransferase activity	EXP
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IDA
GO:0004614	phosphoglucomutase activity	ISS
GO:0005515	protein binding	IPI
GO:0016757	transferase activity, transferring glycosyl groups	IEA
GO:0042803	protein homodimerization activity	IPI
GO:0052657	guanine phosphoribosyltransferase activity	IDA

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000194	Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.	Full Length	$416.15
NM_000194		ORF Sequence	$190.53