KEGG   Homo sapiens (human): 5053Help
Entry
5053              CDS       T01001                                 

Gene name
PAH, PH, PKU, PKU1
Definition
(RefSeq) phenylalanine hydroxylase
  KO
K00500  phenylalanine-4-hydroxylase [EC:1.14.16.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00360  Phenylalanine metabolism
hsa00400  Phenylalanine, tyrosine and tryptophan biosynthesis
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
hsa01230  Biosynthesis of amino acids
Disease
H00167  Phenylketonuria (PKU)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00360 Phenylalanine metabolism
    5053 (PAH)
   00400 Phenylalanine, tyrosine and tryptophan biosynthesis
    5053 (PAH)
  09108 Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    5053 (PAH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.16  With reduced pteridine as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.16.1  phenylalanine 4-monooxygenase
     5053 (PAH)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Biopterin_H ACT ACT_4
Motif
Other DBs
NCBI-GeneID: 5053
NCBI-ProteinID: NP_000268
OMIM: 612349
HGNC: 8582
Ensembl: ENSG00000171759
Vega: OTTHUMG00000169966
Pharos: P00439(Tclin)
UniProt: P00439 A0A024RBG4
Structure
PDB: 

Position
12q23.2
AA seq 452 aa AA seqDB search
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDV
NLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPW
FPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYM
EEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFA
QFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSE
KPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQR
IEVLDNTQQLKILADSINSEIGILCSALQKIK
NT seq 1359 nt NT seq  +upstreamnt  +downstreamnt
atgtccactgcggtcctggaaaacccaggcttgggcaggaaactctctgactttggacag
gaaacaagctatattgaagacaactgcaatcaaaatggtgccatatcactgatcttctca
ctcaaagaagaagttggtgcattggccaaagtattgcgcttatttgaggagaatgatgta
aacctgacccacattgaatctagaccttctcgtttaaagaaagatgagtatgaatttttc
acccatttggataaacgtagcctgcctgctctgacaaacatcatcaagatcttgaggcat
gacattggtgccactgtccatgagctttcacgagataagaagaaagacacagtgccctgg
ttcccaagaaccattcaagagctggacagatttgccaatcagattctcagctatggagcg
gaactggatgctgaccaccctggttttaaagatcctgtgtaccgtgcaagacggaagcag
tttgctgacattgcctacaactaccgccatgggcagcccatccctcgagtggaatacatg
gaggaagaaaagaaaacatggggcacagtgttcaagactctgaagtccttgtataaaacc
catgcttgctatgagtacaatcacatttttccacttcttgaaaagtactgtggcttccat
gaagataacattccccagctggaagacgtttctcagttcctgcagacttgcactggtttc
cgcctccgacctgtggctggcctgctttcctctcgggatttcttgggtggcctggccttc
cgagtcttccactgcacacagtacatcagacatggatccaagcccatgtatacccccgaa
cctgacatctgccatgagctgttgggacatgtgcccttgttttcagatcgcagctttgcc
cagttttcccaggaaattggccttgcctctctgggtgcacctgatgaatacattgaaaag
ctcgccacaatttactggtttactgtggagtttgggctctgcaaacaaggagactccata
aaggcatatggtgctgggctcctgtcatcctttggtgaattacagtactgcttatcagag
aagccaaagcttctccccctggagctggagaagacagccatccaaaattacactgtcacg
gagttccagcccctctattacgtggcagagagttttaatgatgccaaggagaaagtaagg
aactttgctgccacaatacctcggcccttctcagttcgctacgacccatacacccaaagg
attgaggtcttggacaatacccagcagcttaagattttggctgattccattaacagtgaa
attggaatcctttgcagtgccctccagaaaataaagtaa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (7)   
   KEGG COMPOUND (7)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (3)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   PROTHERM (6)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (23)   
   RefSeq(nuc) (3)   
   GenBank (10)   
   EMBL (10)   
Protein domain (3)   
   Pfam (3)   
All databases (77)   

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