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). |
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Gene in Ethanol Study Datasets |
Gene Information | | 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. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0005829 | cytosol | Cellular Component | EXP (6300847) | |
GO:0005737 | cytoplasm | Cellular Component | IDA (6300847) | |
GO:0042803 | protein homodimerization activity | Molecular Function | IPI (8044844) | |
GO:0000287 | magnesium ion binding | Molecular Function | IDA (10360366) | |
GO:0005515 | protein binding | Molecular Function | IPI (17353931) | |
GO:0004422 | hypoxanthine phosphoribosyltransferase activity | Molecular Function | IDA (6300847|9521733) | |
GO:0004422 | hypoxanthine phosphoribosyltransferase activity | Molecular Function | EXP (6300847) | |
GO:0016757 | transferase activity, transferring glycosyl groups | Molecular Function | IEA | |
GO:0046100 | hypoxanthine metabolic process | Biological Process | IMP (9824441) | |
GO:0045964 | positive regulation of dopamine metabolic process | Biological Process | IMP (8643611) | |
GO:0009116 | nucleoside metabolic process | Biological Process | IEA | |
GO:0007610 | behavior | Biological Process | IMP (16138897) | |
GO:0006166 | purine ribonucleoside salvage | Biological Process | IMP (9824441) | |
GO:0006164 | purine nucleotide biosynthetic process | Biological Process | IMP (9824441) | |
GO:0051289 | protein homotetramerization | Biological Process | IDA (9521733) | |
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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 |