InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HPRT1

Summary

InnateDB Protein

IDBP-86868.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HPRT1

Protein Name

hypoxanthine phosphoribosyltransferase 1

Synonyms

HGPRT; HPRT;

Species

Homo sapiens

Ensembl Protein

ENSP00000298556

InnateDB Gene

IDBG-86864 (HPRT1)

Protein Structure

UniProt Annotation

Function

Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.

Subcellular Localization

Cytoplasm.

Disease Associations

Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self- mutilation. {ECO:0000269PubMed:2071157, ECO:0000269PubMed:2246854, ECO:0000269PubMed:2347587, ECO:0000269PubMed:2358296, ECO:0000269PubMed:2910902, ECO:0000269PubMed:3265398, ECO:0000269PubMed:3384338, ECO:0000269PubMed:6853716, ECO:0000269PubMed:7627191, ECO:0000269PubMed:9452051}. Note=The disease is caused by mutations affecting the gene represented in this entry.Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia. {ECO:0000269PubMed:2909537, ECO:0000269PubMed:3198771, ECO:0000269PubMed:3358423, ECO:0000269PubMed:6572373, ECO:0000269PubMed:6706936, ECO:0000269PubMed:6853490, ECO:0000269Ref.42}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.

Experimentally validated
Total	25 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0000287	magnesium ion binding
GO:0004422	hypoxanthine phosphoribosyltransferase activity
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0052657	guanine phosphoribosyltransferase activity

Biological Process

GO:0001975	response to amphetamine
GO:0006144	purine nucleobase metabolic process
GO:0006164	purine nucleotide biosynthetic process
GO:0006166	purine ribonucleoside salvage
GO:0006168	adenine salvage
GO:0006178	guanine salvage
GO:0007625	grooming behavior
GO:0007626	locomotory behavior
GO:0009116	nucleoside metabolic process
GO:0019835	cytolysis
GO:0021756	striatum development
GO:0021895	cerebral cortex neuron differentiation
GO:0021954	central nervous system neuron development
GO:0032263	GMP salvage
GO:0032264	IMP salvage
GO:0042417	dopamine metabolic process
GO:0043101	purine-containing compound salvage
GO:0043103	hypoxanthine salvage
GO:0044281	small molecule metabolic process
GO:0045964	positive regulation of dopamine metabolic process
GO:0046038	GMP catabolic process
GO:0046040	IMP metabolic process
GO:0046083	adenine metabolic process
GO:0046100	hypoxanthine metabolic process
GO:0046651	lymphocyte proliferation
GO:0048813	dendrite morphogenesis
GO:0051289	protein homotetramerization
GO:0055086	nucleobase-containing small molecule metabolic process