Gene
aldh4a1
- ID
- ZDB-GENE-040426-1179
- Name
- aldehyde dehydrogenase 4 family, member A1
- Symbol
- aldh4a1 Nomenclature History
- Previous Names
-
- zgc:63592
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable L-glutamate gamma-semialdehyde dehydrogenase activity. Predicted to be involved in L-proline catabolic process to L-glutamate. Predicted to act upstream of or within proline metabolic process. Predicted to be located in mitochondrial matrix. Is expressed in several structures, including alar plate midbrain region; optic tectum; optic vesicle; pronephric duct; and yolk syncytial layer. Human ortholog(s) of this gene implicated in hyperprolinemia type 2. Orthologous to human ALDH4A1 (aldehyde dehydrogenase 4 family member A1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63592 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hyperprolinemia type 2 | Alliance | Hyperprolinemia, type II | 239510 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR016160 | Aldehyde dehydrogenase, cysteine active site |
| Conserved_site | IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
| Domain | IPR015590 | Aldehyde dehydrogenase domain |
| Family | IPR005931 | Delta-1-pyrroline-5-carboxylate dehydrogenase |
| Homologous_superfamily | IPR016161 | Aldehyde/histidinol dehydrogenase |
| Homologous_superfamily | IPR016162 | Aldehyde dehydrogenase, N-terminal |
| Homologous_superfamily | IPR016163 | Aldehyde dehydrogenase, C-terminal |
Domain Details Per Protein
| Protein | Additional Resources | Length | Aldehyde dehydrogenase, C-terminal | Aldehyde dehydrogenase, cysteine active site | Aldehyde dehydrogenase domain | Aldehyde dehydrogenase, glutamic acid active site | Aldehyde dehydrogenase, N-terminal | Aldehyde/histidinol dehydrogenase | Delta-1-pyrroline-5-carboxylate dehydrogenase |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7SY23 | InterPro | 556 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
aldh4a1-201
(1)
|
Ensembl | 1,954 nt |
Interactions and Pathways
No data available
Plasmids
No data available