Gene
aldh18a1
- ID
- ZDB-GENE-030131-5602
- Name
- aldehyde dehydrogenase 18 family, member A1
- Symbol
- aldh18a1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have glutamate-5-semialdehyde dehydrogenase activity. Predicted to be involved in L-proline biosynthetic process; oxidation-reduction process; and phosphorylation. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Is expressed in several structures, including central nervous system; endocrine system; eye; immature eye; and tail bud. Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 31 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb842 (12 images)
- cb881 (3 images)
- cb899 (5 images)
- IMAGE:7165398 (14 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 |
|---|---|---|---|
| autosomal dominant cutis laxa 3 | Alliance | Cutis laxa, autosomal dominant 3 | 616603 |
| autosomal recessive cutis laxa type IIIA | Alliance | Cutis laxa, autosomal recessive, type IIIA | 219150 |
| hereditary spastic paraplegia 9A | Alliance | Spastic paraplegia 9A, autosomal dominant | 601162 |
| hereditary spastic paraplegia 9B | Alliance | Spastic paraplegia 9B, autosomal recessive | 616586 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019797 | Glutamate 5-kinase, conserved site |
| Conserved_site | IPR020593 | Gamma-glutamyl phosphate reductase GPR, conserved site |
| Domain | IPR000965 | GPR domain |
| Domain | IPR001048 | Aspartate/glutamate/uridylate kinase |
| Domain | IPR015590 | Aldehyde dehydrogenase domain |
| Domain | IPR041744 | Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain |
| Family | IPR001057 | Glutamate/acetylglutamate kinase |
| Family | IPR005715 | Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase |
| Family | IPR005766 | Delta l-pyrroline-5-carboxylate synthetase |
| Homologous_superfamily | IPR016161 | Aldehyde/histidinol dehydrogenase |
| Homologous_superfamily | IPR016162 | Aldehyde dehydrogenase, N-terminal |
| Homologous_superfamily | IPR016163 | Aldehyde dehydrogenase, C-terminal |
| Homologous_superfamily | IPR036393 | Acetylglutamate kinase-like superfamily |
Domain Details Per Protein
| Protein | Length | Acetylglutamate kinase-like superfamily | Aldehyde dehydrogenase, C-terminal | Aldehyde dehydrogenase domain | Aldehyde dehydrogenase, N-terminal | Aldehyde/histidinol dehydrogenase | Aspartate/glutamate/uridylate kinase | Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain | Delta l-pyrroline-5-carboxylate synthetase | Gamma-glutamyl phosphate reductase GPR, conserved site | Glutamate 5-kinase, conserved site | Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase | Glutamate/acetylglutamate kinase | GPR domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AYJ5
|
803 | |||||||||||||
|
UniProtKB:A4IGC8
|
782 | |||||||||||||
|
UniProtKB:A0A8M3B4R7
|
805 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
aldh18a1-201
(1)
|
Ensembl | 4,416 nt | ||
| mRNA |
aldh18a1-202
(1)
|
Ensembl | 5,543 nt |
Interactions and Pathways
No data available
Plasmids
No data available