KEGG   Homo sapiens (human): 3251
Entry
3251              CDS       T01001                                 
Symbol
HPRT1, HGPRT, HPRT
Name
(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
hsa01232  Nucleotide metabolism
Network
nt06027  Purine salvage pathway
  Element
N01421  Purine salvage pathway, hypoxanthine/guanine to IMP/GMP
N01422  HPRT1 deficiency in purine salvage pathway
Disease
H00194  Lesch-Nyhan syndrome
Drug target
Mercaptopurine (DG00683): D00161<JP/US> D04931
Tioguanine (DG00684): D06109<US> D08603
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    3251 (HPRT1)
  09111 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
UniProt: P00492 A0A140VJL3
Structure
Position
X:134460165..134500668
AA seq 218 aa
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH
HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD
DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG
FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
NT seq 657 nt   +upstreamnt  +downstreamnt
atggcgacccgcagccctggcgtcgtgattagtgatgatgaaccaggttatgaccttgat
ttattttgcatacctaatcattatgctgaggatttggaaagggtgtttattcctcatgga
ctaattatggacaggactgaacgtcttgctcgagatgtgatgaaggagatgggaggccat
cacattgtagccctctgtgtgctcaaggggggctataaattctttgctgacctgctggat
tacatcaaagcactgaatagaaatagtgatagatccattcctatgactgtagattttatc
agactgaagagctattgtaatgaccagtcaacaggggacataaaagtaattggtggagat
gatctctcaactttaactggaaagaatgtcttgattgtggaagatataattgacactggc
aaaacaatgcagactttgctttccttggtcaggcagtataatccaaagatggtcaaggtc
gcaagcttgctggtgaaaaggaccccacgaagtgttggatataagccagactttgttgga
tttgaaattccagacaagtttgttgtaggatatgcccttgactataatgaatacttcagg
gatttgaatcatgtttgtgtcattagtgaaactggaaaagcaaaatacaaagcctaa

  All links  
Disease (3)   
   OMIM (3)   
Gene (13)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (23)   
   RefSeq(nuc) (1)   
   GenBank (11)   
   EMBL (11)   
3D Structure (23)   
   PDB (23)   
Protein domain (3)   
   Pfam (3)   
All databases (69)   

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