HPRT1
entrez
3251
canonical
uniprot
P00492
canonical
ensembl
ENSG00000165704
resolver
ensp
ENSP00000298556
resolver
enst
ENST00000298556
resolver
genesymbol
HPRT1
resolver
genesymbol_syn
HPRT
resolver
hgnc
HGNC:5157
resolver
uniprot
A0A140VJL3
resolver
uniprot
A6NHF0
resolver
uniprot
B2R8M9
resolver
uniprot_entry
A0A140VJL3_HUMAN
resolver
uniprot_entry
HPRT_HUMAN
resolver
uniprot_sec
A6NHF0
resolver
uniprot_sec
B2R8M9
resolver
amino_acid_sequence
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
uniprot
proteins
disease_involvement
DISEASE: Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation. {ECO:0000269|PubMed:1301916, ECO:0000269|PubMed:15571223, ECO:0000269|PubMed:17027311, ECO:0000269|PubMed:2018042, ECO:0000269|PubMed:20544509, ECO:0000269|PubMed:2071157, ECO:0000269|PubMed:2246854, ECO:0000269|PubMed:2347587, ECO:0000269|PubMed:2358296, ECO:0000269|PubMed:24940672, ECO:0000269|PubMed:2572141, ECO:0000269|PubMed:2738157, ECO:0000269|PubMed:2910902, ECO:0000269|PubMed:3265398, ECO:0000269|PubMed:3384338, ECO:0000269|PubMed:6853716, ECO:0000269|PubMed:7627191, ECO:0000269|PubMed:9452051}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperuricemia, HPRT-related (HRH) [MIM:300323]: An X-linked metabolic disorder characterized by uric acid excess in the blood, renal stones, uric acid nephropathy, and renal obstruction. After puberty, the hyperuricemia may cause gout. {ECO:0000269|PubMed:1301916, ECO:0000269|PubMed:1487231, ECO:0000269|PubMed:15571223, ECO:0000269|PubMed:17027311, ECO:0000269|PubMed:1937471, ECO:0000269|PubMed:2018042, ECO:0000269|PubMed:20544509, ECO:0000269|PubMed:24940672, ECO:0000269|PubMed:2738157, ECO:0000269|PubMed:2896620, ECO:0000269|PubMed:2909537, ECO:0000269|PubMed:3198771, ECO:0000269|PubMed:3358423, ECO:0000269|PubMed:6572373, ECO:0000269|PubMed:6706936, ECO:0000269|PubMed:6853490, ECO:0000269|PubMed:7987318}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.2.8
uniprot
proteins
function
FUNCTION: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
uniprot
proteins
mass_dalton
24579
uniprot
proteins
mutagenesis
MUTAGEN 69; /note="K->A: Reduced affinity for hypoxanthine, phosphoribosylpyrophosphate and IMP. Reduced catalytic activity."; /evidence="ECO:0000269|PubMed:10338013
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
uniprot
proteins
protein_family
Purine/pyrimidine phosphoribosyltransferase family
uniprot
proteins
pubmed
10338013
uniprot
proteins
pubmed
10360366
uniprot
proteins
pubmed
1301916
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1487231
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1551676
uniprot
proteins
pubmed
15571223
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15990111
uniprot
proteins
pubmed
17027311
uniprot
proteins
pubmed
1840476
uniprot
proteins
pubmed
1937471
uniprot
proteins
pubmed
19527031
uniprot
proteins
pubmed
2018042
uniprot
proteins
pubmed
20544509
uniprot
proteins
pubmed
2071157
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2246854
uniprot
proteins
pubmed
2341149
uniprot
proteins
pubmed
2347587
uniprot
proteins
pubmed
2358296
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24940672
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
2572141
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2738157
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
2896620
uniprot
proteins
pubmed
2909537
uniprot
proteins
pubmed
2910902
uniprot
proteins
pubmed
2928313
uniprot
proteins
pubmed
3023844
uniprot
proteins
pubmed
3148064
uniprot
proteins
pubmed
3198771
uniprot
proteins
pubmed
3265398
uniprot
proteins
pubmed
3358423
uniprot
proteins
pubmed
3384338
uniprot
proteins
pubmed
6300847
uniprot
proteins
pubmed
6572373
uniprot
proteins
pubmed
6706936
uniprot
proteins
pubmed
6853490
uniprot
proteins
pubmed
6853716
uniprot
proteins
pubmed
7107641
uniprot
proteins
pubmed
7627191
uniprot
proteins
pubmed
7987318
uniprot
proteins
pubmed
8044844
uniprot
proteins
pubmed
9003484
uniprot
proteins
pubmed
9452051
uniprot
proteins
sequence_length
218
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins