• Gene id: 3251

Gene Summary

• Gene Symbol: HPRT1   Gene   UCSC   Ensembl
• Aliases: HGPRT, HPRT
• Gene name: hypoxanthine phosphoribosyltransferase 1
• Alternate names: hypoxanthine-guanine phosphoribosyltransferase, HGPRTase, hypoxanthine-guanine phosphoribosyltransferase 1, testicular tissue protein Li 89,
• Gene location: Xq26.2-q26.3 (134460164: 134500667)     Exons: 9     NC_000023.11
• Gene summary(Entrez): 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 pla
• OMIM: 308000

Protein Summary

• Protein general information: P00492  
  • Name: Hypoxanthine guanine phosphoribosyltransferase (HGPRT) (HGPRTase) (EC 2.4.2.8)
  • Length: 218  
  • Mass: 24579
• Sequence:

  MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFF
  ADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLV
  RQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA

• Structural information:
  • Interpro: IPR005904  IPR000836  IPR029057  
  • Prosite: PS00103
  • CDD: cd06223
  • PDB: 1BZY 1D6N 1HMP 1Z7G 2VFA 3GEP 3GGC 3GGJ 4IJQ 4KN6 4RAB 4RAC 4RAD 4RAN 4RAO 4RAQ 5BRN 5BSK 5HIA 5W8V 6BNJ
  • PDBsum: 1BZY 1D6N 1HMP 1Z7G 2VFA 3GEP 3GGC 3GGJ 4IJQ 4KN6 4RAB 4RAC 4RAD 4RAN 4RAO 4RAQ 5BRN 5BSK 5HIA 5W8V 6BNJ
  • STRING: ENSP00000298556
• Other Databases: GeneCards:  HPRT1  Malacards:  HPRT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032263	GMP salvage	IBA	biological process
GO:0006166	purine ribonucleoside salvage	IBA	biological process
GO:0000287	magnesium ion binding	IBA	molecular function
GO:0046100	hypoxanthine metabolic process	IBA	biological process
GO:0032264	IMP salvage	IBA	biological process
GO:0006178	guanine salvage	IBA	biological process
GO:0006168	adenine salvage	IBA	biological process
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IBA	molecular function
GO:0043103	hypoxanthine salvage	IDA	biological process
GO:0052657	guanine phosphoribosyltransferase activity	IDA	molecular function
GO:0046040	IMP metabolic process	IDA	biological process
GO:0046038	GMP catabolic process	IDA	biological process
GO:0006178	guanine salvage	IDA	biological process
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IDA	molecular function
GO:0051289	protein homotetramerization	IPI	biological process
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IEA	molecular function
GO:0052657	guanine phosphoribosyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001913	T cell mediated cytotoxicity	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0021756	striatum development	IEA	biological process
GO:0042417	dopamine metabolic process	IEA	biological process
GO:0046083	adenine metabolic process	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006168	adenine salvage	IEA	biological process
GO:0006178	guanine salvage	IEA	biological process
GO:0007625	grooming behavior	IEA	biological process
GO:0021895	cerebral cortex neuron differentiation	IEA	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0046100	hypoxanthine metabolic process	IEA	biological process
GO:0046651	lymphocyte proliferation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032264	IMP salvage	IEA	biological process
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0004422	hypoxanthine phosphoribosyltransferase activity	IDA	molecular function
GO:0006166	purine ribonucleoside salvage	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0006164	purine nucleotide biosynthetic process	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046100	hypoxanthine metabolic process	IMP	biological process
GO:0045964	positive regulation of dopamine metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes

Diseases

Associated diseases	References
Lesch-Nyhan syndrome	KEGG:H00194
Lesch-Nyhan syndrome	KEGG:H00194
Lesch-Nyhan syndrome	PMID:20638392
Lesch-Nyhan syndrome	PMID:24940672
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881