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Pah
Gene Detail
Symbol

Name
ID
Pah
phenylalanine hydroxylase
MGI:97473
Feature Type
protein coding gene
Genetic Map
Chromosome 10
43.64 cM, cytoband C2-D1
Detailed Genetic Map ± 1 cM


Mapping data(26)
Sequence Map
Chr10:87521795-87584136 bp, + strand
From VEGA annotation of GRCm38

  62342 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:234  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PAH
Protein SuperFamily: tyrosine 3-monooxygenase
Gene Tree: Pah

Human
homologs
PAH, phenylalanine hydroxylase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 5053
neXtProt AC: NX_P00439

Human Synonyms: PH, PKU, PKU1

Human Chr (Location): 12q22-q24.2; chr12:102838321-102917603 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PAH

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.
 
Human Diseases Modeled in Mice Using Pah (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Pah interacts with 103 markers (Mir7-1, Mir23a, Mir23b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process aromatic amino acid family metabolic process, L-phenylalanine catabolic process, ...
Component extracellular exosome
Function amino acid binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (118)    Tissues (95)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 118
cDNA source data(241)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pah    NEW 
Molecular
reagents
All nucleic(251) Genomic(1) cDNA(247) Primer pair(1) Other(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000023594 (Evidence)
Ensembl Gene Model ENSMUSG00000020051 (Evidence)
Entrez Gene 18478 (Evidence)
UniGene 263539
DFCI TC1573028, TC1721143
DoTS DT.496589
NIA Mouse Gene Index U011849
EC 1.14.16.1
Consensus CDS Project CCDS24102.1
International Mouse Phenotyping Consortium Status Pah
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023594 VEGA Gene Model | MGI Sequence Detail 62342 C57BL/6J ±  kb
transcript OTTMUST00000057595 VEGA | MGI Sequence Detail 2142 Not Applicable 
polypeptide OTTMUSP00000027786 VEGA | MGI Sequence Detail 453 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(2) UniProt(5)
Polymorphisms
All PCR and RFLP(13) : PCR(1) RFLP(12) SNPs within 2kb(305 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002912 ACT domain
InterPro IPR001273 Aromatic amino acid hydroxylase
InterPro IPR019774 Aromatic amino acid hydroxylase, C-terminal
InterPro IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
InterPro IPR005961 Phenylalanine-4-hydroxylase, tetrameric form
InterPro IPR019773 Tyrosine 3-monooxygenase-like
Protein Ontology PR:000012234 phenylalanine-4-hydroxylase
References
(Earliest) J:12024 Dahl HH, et al., Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites. J Biol Chem. 1986 Mar 25;261(9):4148-53
(Latest) J:220089 Dobrowolski SF, et al., Methylome repatterning in a mouse model of Maternal PKU Syndrome. Mol Genet Metab. 2014 Nov;113(3):194-9
All references(104)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-13126, MGI:2143804

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory