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
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb877 (15 images)
- IMAGE:7144221 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Phenotype Annotation (1994-2006)
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| phenylketonuria | Alliance | Phenylketonuria | 261600 |
| phenylketonuria | Alliance | [Hyperphenylalaninemia, non-PKU mild] | 261600 |
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 |
Interactions and Pathways
No data available
Plasmids
No data available