ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 1-pyrroline-5-carboxylate dehydrogenase activity. Predicted to be involved in proline catabolic process to 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 |
- Genome Browsers
| 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
- Genome Browsers