KEGG   Homo sapiens (human): 3251Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Pribosyltran UPRTase PRTase_2
Motif
Other DBs
NCBI-GeneID: 3251
NCBI-ProteinID: NP_000185
OMIM: 308000
HGNC: 5157
Ensembl: ENSG00000165704
Vega: OTTHUMG00000022452
Pharos: P00492(Tchem)
UniProt: P00492 A0A140VJL3
LinkDB All DBs
Structure
PDB: 

Jmol
Position
Xq26.2-q26.3
AA seq 218 aa AA seqDB search
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH
HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD
DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG
FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
NT seq 657 nt NT seq  +upstreamnt  +downstreamnt
atggcgacccgcagccctggcgtcgtgattagtgatgatgaaccaggttatgaccttgat
ttattttgcatacctaatcattatgctgaggatttggaaagggtgtttattcctcatgga
ctaattatggacaggactgaacgtcttgctcgagatgtgatgaaggagatgggaggccat
cacattgtagccctctgtgtgctcaaggggggctataaattctttgctgacctgctggat
tacatcaaagcactgaatagaaatagtgatagatccattcctatgactgtagattttatc
agactgaagagctattgtaatgaccagtcaacaggggacataaaagtaattggtggagat
gatctctcaactttaactggaaagaatgtcttgattgtggaagatataattgacactggc
aaaacaatgcagactttgctttccttggtcaggcagtataatccaaagatggtcaaggtc
gcaagcttgctggtgaaaaggaccccacgaagtgttggatataagccagactttgttgga
tttgaaattccagacaagtttgttgtaggatatgcccttgactataatgaatacttcagg
gatttgaatcatgtttgtgtcattagtgaaactggaaaagcaaaatacaaagcctaa

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