Homo sapiens (human): 3251
Entry
3251 CDS
T01001
Gene name
HPRT1, HGPRT, HPRT
Definition
(RefSeq) hypoxanthine phosphoribosyltransferase 1
KO
K00760
hypoxanthine phosphoribosyltransferase [EC:
2.4.2.8
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00230
Purine metabolism
hsa00983
Drug metabolism - other enzymes
hsa01100
Metabolic pathways
Disease
H00194
Lesch-Nyhan syndrome
Drug target
Mercaptopurine (
DG00683
):
D00161
D04931
Tioguanine (
DG00684
):
D06109
D08603
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
Metabolism
Nucleotide metabolism
00230 Purine metabolism
3251 (HPRT1)
Xenobiotics biodegradation and metabolism
00983 Drug metabolism - other enzymes
3251 (HPRT1)
Enzymes [BR:
hsa01000
]
2. Transferases
2.4 Glycosyltransferases
2.4.2 Pentosyltransferases
2.4.2.8 hypoxanthine phosphoribosyltransferase
3251 (HPRT1)
SSDB
Motif
Pfam:
Pribosyltran
UPRTase
PRTase_2
Other DBs
NCBI-GeneID:
3251
NCBI-ProteinID:
NP_000185
OMIM:
308000
HGNC:
5157
Ensembl:
ENSG00000165704
Vega:
OTTHUMG00000022452
Pharos:
P00492
(Tchem)
UniProt:
P00492
A0A140VJL3
LinkDB
Structure
PDB:
5HIA
4RAO
1Z7G
6BNJ
4RAD
4IJQ
1BZY
4RAC
4RAB
5BRN
5W8V
1HMP
4RAQ
4RAN
3GGJ
3GEP
5BSK
1D6N
4KN6
3GGC
Position
Xq26.2-q26.3
AA seq
218 aa
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH
HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD
DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG
FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
NT seq
657 nt
+upstream
nt +downstream
nt
atggcgacccgcagccctggcgtcgtgattagtgatgatgaaccaggttatgaccttgat
ttattttgcatacctaatcattatgctgaggatttggaaagggtgtttattcctcatgga
ctaattatggacaggactgaacgtcttgctcgagatgtgatgaaggagatgggaggccat
cacattgtagccctctgtgtgctcaaggggggctataaattctttgctgacctgctggat
tacatcaaagcactgaatagaaatagtgatagatccattcctatgactgtagattttatc
agactgaagagctattgtaatgaccagtcaacaggggacataaaagtaattggtggagat
gatctctcaactttaactggaaagaatgtcttgattgtggaagatataattgacactggc
aaaacaatgcagactttgctttccttggtcaggcagtataatccaaagatggtcaaggtc
gcaagcttgctggtgaaaaggaccccacgaagtgttggatataagccagactttgttgga
tttgaaattccagacaagtttgttgtaggatatgcccttgactataatgaatacttcagg
gatttgaatcatgtttgtgtcattagtgaaactggaaaagcaaaatacaaagcctaa
DBGET
integrated database retrieval system