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Gene Information
Gene ID:3251
Symbol:HPRT1
Full Name:hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
Alias:HGPRT|HPRT
Organism:Homo sapiens (Human)
Chromosome:X
Genetic Location:Xq26.1
Physical Location:133421922-133462361 on NC_000023.9
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:HPRT1
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000194.2NP_000185.1NC_000023.9 range: 133421922..133462361
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005829cytosolCellular ComponentEXP (6300847)
GO:0005737cytoplasmCellular ComponentIDA (6300847)
GO:0042803protein homodimerization activityMolecular FunctionIPI (8044844)
GO:0000287magnesium ion bindingMolecular FunctionIDA (10360366)
GO:0005515protein bindingMolecular FunctionIPI (17353931)
GO:0004422hypoxanthine phosphoribosyltransferase activityMolecular FunctionIDA (6300847|9521733)
GO:0004422hypoxanthine phosphoribosyltransferase activityMolecular FunctionEXP (6300847)
GO:0016757transferase activity, transferring glycosyl groupsMolecular FunctionIEA
GO:0046100hypoxanthine metabolic processBiological ProcessIMP (9824441)
GO:0045964positive regulation of dopamine metabolic processBiological ProcessIMP (8643611)
GO:0009116nucleoside metabolic processBiological ProcessIEA
GO:0007610behaviorBiological ProcessIMP (16138897)
GO:0006166purine ribonucleoside salvageBiological ProcessIMP (9824441)
GO:0006164purine nucleotide biosynthetic processBiological ProcessIMP (9824441)
GO:0051289protein homotetramerizationBiological ProcessIDA (9521733)
Other Database Cross Links
NCBI Entrez Gene:3251
HGNC:5157
Ensembl:ENSG00000165704
MIM:308000
HPRD:02388
HuGE Navigator:3251
dbSNP:HPRT1
GeneCard:HPRT1
AceView:HPRT1