Version 5.4
Homo sapiens Gene: HPRT1
Summary
InnateDB Gene IDBG-86864.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPRT1
Gene Name hypoxanthine phosphoribosyltransferase 1
Synonyms HGPRT; HPRT
Species Homo sapiens
Ensembl Gene ENSG00000165704
Encoded Proteins
IDBP-86868
hypoxanthine phosphoribosyltransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:134460153-134520513
Strand Forward strand
Band q26.2
Transcripts
ENST00000298556 ENSP00000298556
ENST00000462974
ENST00000475720
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
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025630
View Gene Order
ENSBTAG00000014685
Not yet available
Pathways
NETPATH
REACTOME
REACT_1923
Purine salvage pathway
REACT_1698
Metabolism of nucleotides pathway
REACT_522
Purine metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00230
Purine metabolism pathway
hsa00983
Drug metabolism pathway
INOH
INOH website
Purine nucleotides nucleosides metabolism pathway
PID NCI
Cross-References
SwissProt P00492
TrEMBL
UniProt Splice Variant
Entrez Gene 3251
UniGene Hs.412707 Hs.733165
RefSeq NM_000194
HUGO HGNC:5157
OMIM 308000
CCDS CCDS14641
HPRD
IMGT
EMBL AC004383 AK313435 AY780550 BC000578 BT019350 CH471107 L29382 L29383 M12452 M26434 M31642 S60300 S79313
GenPept AAA36012 AAA52690 AAA52691 AAB21289 AAB59391 AAB59392 AAC60591 AAH00578 AAV31777 AAV38157 BAG36226 EAX11761
RNA Seq Atlas 3251

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca