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. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Is expressed in several structures, including digestive system; epidermis; eye; optic vesicle; and periderm. Orthologous to human PAH (phenylalanine hydroxylase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
Homologous_superfamily IPR045865 ACT-like domain
Domain Details Per Protein
Protein Length ACT domain ACT-like 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:Q6PHI7 449
UniProtKB:Q7SYH6 449
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations