Gene
aldh5a1
- ID
- ZDB-GENE-070228-2
- Name
- aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
- Symbol
- aldh5a1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have NAD binding activity and succinate-semialdehyde dehydrogenase (NAD+) activity. Predicted to be involved in galactosylceramide metabolic process; gamma-aminobutyric acid catabolic process; and short-chain fatty acid metabolic process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in succinic semialdehyde dehydrogenase deficiency. Orthologous to human ALDH5A1 (aldehyde dehydrogenase 5 family member A1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lodd et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| succinic semialdehyde dehydrogenase deficiency | Alliance | Succinic semialdehyde dehydrogenase deficiency | 271980 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR016160 | Aldehyde dehydrogenase, cysteine active site |
| Domain | IPR015590 | Aldehyde dehydrogenase domain |
| Family | IPR010102 | Succinate semialdehyde dehydrogenase |
| Family | IPR050740 | Aldehyde Dehydrogenase Superfamily |
| 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 | Length | Aldehyde dehydrogenase, C-terminal | Aldehyde dehydrogenase, cysteine active site | Aldehyde dehydrogenase domain | Aldehyde dehydrogenase, N-terminal | Aldehyde Dehydrogenase Superfamily | Aldehyde/histidinol dehydrogenase | Succinate semialdehyde dehydrogenase |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QE89
|
426 | |||||||
|
UniProtKB:A0A0R4IIB7
|
522 | |||||||
|
UniProtKB:A4IG36
|
404 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
aldh5a1-201
(1)
|
Ensembl | 1,918 nt | ||
| mRNA |
aldh5a1-202
(1)
|
Ensembl | 1,823 nt | ||
| mRNA |
aldh5a1-204
(1)
|
Ensembl | 1,713 nt | ||
| ncRNA |
aldh5a1-002
(1)
|
Ensembl | 539 nt |
Interactions and Pathways
No data available
Plasmids
No data available