Version 5.4
Mus musculus Gene: Pah
Summary
InnateDB Gene IDBG-182861.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pah
Gene Name phenylalanine hydroxylase
Synonyms AW106920
Species Mus musculus
Ensembl Gene ENSMUSG00000020051
Encoded Proteins
IDBP-182863
phenylalanine hydroxylase
IDBP-536406
phenylalanine hydroxylase
IDBP-542227
phenylalanine hydroxylase
IDBP-541375
phenylalanine hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000171759:
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 10:87521795-87584136
Strand Forward strand
Band C1
Transcripts
ENSMUST00000020241 ENSMUSP00000020241
ENSMUST00000142088 ENSMUSP00000120429
ENSMUST00000143624 ENSMUSP00000114366
ENSMUST00000133293 ENSMUSP00000119455
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
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:0009072 aromatic amino acid family metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000171759
View Gene Order
ENSBTAG00000012794
Not yet available
Pathways
NETPATH
REACTOME
REACT_189085
Disease pathway
REACT_261966
Phenylalanine and tyrosine catabolism pathway
REACT_188937
Metabolism pathway
REACT_232845
Metabolism of amino acids and derivatives pathway
REACT_189094
Abnormal metabolism in phenylketonuria pathway
KEGG
mmu00360
Phenylalanine metabolism pathway
mmu00400
Phenylalanine, tyrosine and tryptophan biosynthesis pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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
REACT_226362
Metabolism of amino acids and derivatives pathway
REACT_227399
Phenylalanine and tyrosine catabolism pathway
REACT_220407
Abnormal metabolism in phenylketonuria pathway
REACT_219139
Metabolism pathway
REACT_207087
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 Mm.263539 Mm.470169
RefSeq NM_008777
OMIM
CCDS CCDS24102
HPRD
IMGT
MGI ID
MGI Symbol
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