Homo sapiens (human): 5053 Help Entry 5053              CDS       T01001                                  Symbol PAH, PH, PKU, PKU1 Name (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 Network nt06016  Phenylalanine and tyrosine metabolism   Element N00700   Tyrosine biosynthesis Disease H00167   Phenylketonuria Drug target Pegvaliase:  D11077<JP/US> 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 OrthologParalogGene clusterGFIT Motif Pfam:  Biopterin_H ACT TH_ACT ACT_4 Motif Other DBs NCBI-GeneID:  5053 NCBI-ProteinID:  NP_000268 OMIM:  612349 HGNC:  8582 Ensembl:  ENSG00000171759 UniProt:  P00439 Structure PDB LinkDB All DBs Position 12:complement(102836889..102958441) Genome browser 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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