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

Gene name
PAH, PH, PKU, PKU1
Definition
phenylalanine hydroxylase (EC:1.14.16.1)
Orthology
K00500  
phenylalanine-4-hydroxylase [EC:1.14.16.1]
Organism
hsa  Homo sapiens (human)
Pathway
Phenylalanine metabolism
Phenylalanine, tyrosine and tryptophan biosynthesis
Metabolic pathways
Biosynthesis of amino acids
Disease
H00167  
Phenylketonuria (PKU)
Class
Metabolism; Overview; Biosynthesis of amino acids [PATH:hsa01230]
Metabolism; Amino acid metabolism; Phenylalanine metabolism [PATH:hsa00360]
Metabolism; Amino acid metabolism; Phenylalanine, tyrosine and tryptophan biosynthesis [PATH:hsa00400]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
12q22-q24.2
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
gaagataacattccccagctggaagacgtttctcaattcctgcagacttgcactggtttc
cgcctccgacctgtggctggcctgctttcctctcgggatttcttgggtggcctggccttc
cgagtcttccactgcacacagtacatcagacatggatccaagcccatgtatacccccgaa
cctgacatctgccatgagctgttgggacatgtgcccttgttttcagatcgcagctttgcc
cagttttcccaggaaattggccttgcctctctgggtgcacctgatgaatacattgaaaag
ctcgccacaatttactggtttactgtggagtttgggctctgcaaacaaggagactccata
aaggcatatggtgctgggctcctgtcatcctttggtgaattacagtactgcttatcagag
aagccaaagcttctccccctggagctggagaagacagccatccaaaattacactgtcacg
gagttccagcccctgtattacgtggcagagagttttaatgatgccaaggagaaagtaagg
aactttgctgccacaatacctcggcccttctcagttcgctacgacccatacacccaaagg
attgaggtcttggacaatacccagcagcttaagattttggctgattccattaacagtgaa
attggaatcctttgcagtgccctccagaaaataaagtaa

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