Version 5.4
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
IDBP-53721
phenylalanine hydroxylase
IDBP-592364
phenylalanine hydroxylase
IDBP-585841
phenylalanine hydroxylase
IDBP-596435
phenylalanine hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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
ENSMUSG00000020051
View Gene Order
ENSBTAG00000012794
Not yet available
Pathways
NETPATH
REACTOME
REACT_1786
Phenylalanine and tyrosine catabolism pathway
REACT_121117
Abnormal metabolism in phenylketonuria pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
REACT_116125
Disease pathway
KEGG
hsa00360
Phenylalanine metabolism pathway
hsa00400
Phenylalanine, tyrosine and tryptophan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.560019 Hs.736430 Hs.743300
RefSeq NM_000277
HUGO
OMIM
CCDS CCDS9092
HPRD 08943
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca