Homo sapiens Gene: PAH
Summary
InnateDB Gene IDBG-53719.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAH
Gene Name phenylalanine hydroxylase
Synonyms PH; PKU; PKU1;
Species Homo sapiens
Ensembl Gene ENSG00000171759
Encoded Proteins
phenylalanine hydroxylase
phenylalanine hydroxylase
phenylalanine hydroxylase
phenylalanine hydroxylase
Protein Structure
Entrez Gene
Summary PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:102836885-102958410
Strand Reverse strand
Band q23.2
Transcripts
ENST00000307000 ENSP00000303500
ENST00000553106 ENSP00000448059
ENST00000549247
ENST00000551114
ENST00000549111
ENST00000551988
ENST00000550978
ENST00000551337 ENSP00000447620
ENST00000548928
ENST00000546844 ENSP00000446658
ENST00000548677
ENST00000547319
ENST00000546708
ENST00000552251
ENST00000550405
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004505 phenylalanine 4-monooxygenase activity
GO:0005506 iron ion binding
GO:0016597 amino acid binding
GO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen
Biological Process
GO:0006559 L-phenylalanine catabolic process
GO:0008152 metabolic process
GO:0008652 cellular amino acid biosynthetic process
GO:0009072 aromatic amino acid family metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0042136 neurotransmitter biosynthetic process
GO:0042423 catecholamine biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Abnormal metabolism in phenylketonuria pathway
Phenylalanine and tyrosine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Disease pathway
KEGG
Phenylalanine metabolism pathway
Phenylalanine, tyrosine and tryptophan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P00439
TrEMBL A0A024RBG4 F8W0A0 F8W1D4 J3KND8
UniProt Splice Variant
Entrez Gene 5053
UniGene Hs.560019 Hs.736430 Hs.743300
RefSeq NM_000277
HUGO HGNC:8582
OMIM 612349
CCDS CCDS9092
HPRD 08943
IMGT
EMBL AC026108 AC069227 BC026251 CH471054 K03020 S61296 U49897
GenPept AAA60082 AAC51772 AAD13926 AAH26251 EAW97700 EAW97701 EAW97702
ImmGen PAH (murine)
RNA Seq Atlas 101929036 5053