| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3251 |
Name | HPRT1 |
Synonym | HGPRT|HPRT;hypoxanthine phosphoribosyltransferase 1;HPRT1;hypoxanthine phosphoribosyltransferase 1 |
Definition | HGPRTase|hypoxanthine-guanine phosphoribosyltransferase |
Position | Xq26.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | salvage pathways of guanine, xanthine, and their nucleosides;BioCyc;SALVPURINE2-PWY |
Pathway | salvage pathways of adenine, hypoxanthine, and their nucleosides;BioCyc;SALVADEHYPOX-PWY |
Pathway | Adenine and hypoxanthine salvage pathway;PANTHER;P02723 |
Pathway | Xanthine and guanine salvage pathway;PANTHER;P02788 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Purine metabolism;KEGG PATHWAY;hsa00230 |
Pathway | Drug metabolism - other enzymes;KEGG PATHWAY;hsa00983 |
Pathway | Metabolism of nucleotides;Reactome;REACT:1698 |
Disease | Inherited disorders of nucleotide metabolism;KEGG DISEASE |
Disease | Embryoma;FunDO |
Disease | Lesch-Nyhan syndrome;OMIM |
Disease | Gouts;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | HPRT-related gout;OMIM |
Disease | Lesch-Nyhan syndrome;GAD |
Disease | Ataxia telangiectasia;FunDO |
Disease | Lesch-Nyhan syndrome;KEGG DISEASE;H00194 |
Disease | Arthritis;FunDO |
Disease | cytogenetic studies;GAD |
Disease | Leukemia;FunDO |
Disease | Malaria;FunDO |
Disease | METABOLIC;GAD |
Disease | Kidney failure;FunDO |
Disease | Colon cancer;FunDO |
Disease | Encephalopathies;FunDO |
External Links | |
Links to Entrez Gene | 3251 |
Links to all GeneRIF Items | 3251 |
Links to iHOP | 3251 |
Sequence Information | |
Nucleotide Sequence | >3251 : length: 657 atggcgacccgcagccctggcgtcgtgattagtgatgatgaaccaggttatgaccttgat ttattttgcatacctaatcattatgctgaggatttggaaagggtgtttattcctcatgga ctaattatggacaggactgaacgtcttgctcgagatgtgatgaaggagatgggaggccat cacattgtagccctctgtgtgctcaaggggggctataaattctttgctgacctgctggat tacatcaaagcactgaatagaaatagtgatagatccattcctatgactgtagattttatc agactgaagagctattgtaatgaccagtcaacaggggacataaaagtaattggtggagat gatctctcaactttaactggaaagaatgtcttgattgtggaagatataattgacactggc aaaacaatgcagactttgctttccttggtcaggcagtataatccaaagatggtcaaggtc gcaagcttgctggtgaaaaggaccccacgaagtgttggatataagccagactttgttgga tttgaaattccagacaagtttgttgtaggatatgcccttgactataatgaatacttcagg gatttgaatcatgtttgtgtcattagtgaaactggaaaagcaaaatacaaagcctaa |
Protein Sequence | >3251 : length: 218 MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA |