Homo sapiens Gene: PAH

Summary
InnateDB Gene IDBG-53719.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol PAH
Gene Name phenylalanine hydroxylase
Synonyms PH; PKU; PKU1
Species Homo sapiens
Ensembl Gene ENSG00000171759
Encoded Proteins
IDBP-53721 phenylalanine hydroxylase
IDBP-592364 phenylalanine hydroxylase
IDBP-585841 phenylalanine hydroxylase
IDBP-596435 phenylalanine hydroxylase
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: 103230663-103352188
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 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein‑Protein  5
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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
GO:0042803 protein homodimerization activity
GO:0048037 cofactor binding
Biological Process
GO:0006558 L-phenylalanine metabolic process
GO:0006559 L-phenylalanine catabolic process
GO:0006571 tyrosine biosynthetic process
GO:0008152 metabolic process
GO:0008652 cellular amino acid biosynthetic process
GO:0018126 protein hydroxylation
GO:0034641 cellular nitrogen compound metabolic process
GO:0042136 neurotransmitter biosynthetic process
GO:0042423 catecholamine biosynthetic process
GO:0044281 small molecule metabolic process
GO:0046146 tetrahydrobiopterin metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000020051 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000012794 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_121117 Abnormal metabolism in phenylketonuria
REACT_1786 Phenylalanine and tyrosine catabolism
KEGG
hsa01100  Metabolic pathways
hsa00360  Phenylalanine metabolism
hsa00400  Phenylalanine, tyrosine and tryptophan biosynthesis
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P00439 
TrEMBL F8W0A0 F8W1D4 J3KND8
UniProt Splice Variant
Entrez Gene 5053 
UniGene Hs.560019 Hs.736430 Hs.743300
RefSeq NM_000277 
HUGO 8582 
OMIM 612349
CCDS CCDS9092 
HPRD 08943
IMGT
EMBL AC026108 AC069227 BC026251 K03020 S61296 U49897
GenPept AAA60082  AAC51772  AAD13926  AAH26251 
ImmGen PAH (murine) 
RNA Seq Atlas 5053