Gene

pah

ID
ZDB-GENE-031006-2
Name
phenylalanine hydroxylase
Symbol
pah Nomenclature History
Previous Names
  • cb877 (1)
  • wu:fb02f10
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
Predicted to have phenylalanine 4-monooxygenase activity. Involved in cellular response to estrogen stimulus. Is expressed in several structures, including digestive system; epidermis; eye; optic vesicle; and periderm. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Orthologous to human PAH (phenylalanine hydroxylase).
Genome Resources
Note
None
Expression
All Expression Data
12 figures from 5 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Phenotype Annotation (1994-2006)
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pah Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
phenylketonuria Alliance Phenylketonuria 261600
phenylketonuria Alliance [Hyperphenylalaninemia, non-PKU mild] 261600
Associated With pah Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
Domain IPR002912 ACT domain
Domain IPR019774 Aromatic amino acid hydroxylase, C-terminal
Domain IPR041912 Eukaryotic phenylalanine-4-hydroxylase, catalytic domain
Family IPR001273 Aromatic amino acid hydroxylase
Family IPR005961 Phenylalanine-4-hydroxylase, tetrameric form
Family IPR019773 Tyrosine 3-monooxygenase-like
Homologous_superfamily IPR036329 Aromatic amino acid monoxygenase, C-terminal domain superfamily
Homologous_superfamily IPR036951 Aromatic amino acid hydroxylase superfamily
Domain Details Per Protein
Protein Length ACT domain Aromatic amino acid hydroxylase Aromatic amino acid hydroxylase, C-terminal Aromatic amino acid hydroxylase, iron/copper binding site Aromatic amino acid hydroxylase superfamily Aromatic amino acid monoxygenase, C-terminal domain superfamily Eukaryotic phenylalanine-4-hydroxylase, catalytic domain Phenylalanine-4-hydroxylase, tetrameric form Tyrosine 3-monooxygenase-like
UniProtKB:Q7SYH6 449
UniProtKB:Q6PHI7 449
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations