ALDH1A3 Gene Summary [Human]
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | ALDH1A3 |
| Official Name | aldehyde dehydrogenase 1 family member A3 [Source:HGNC Symbol;Acc:HGNC:409] |
| Ensembl ID | ENSG00000184254 |
| Bio databases IDs | |
| Aliases | aldehyde dehydrogenase 1 family member A3, retinaldehyde dehydrogenase 3 |
| Synonyms | aldehyde dehydrogenase 1 family member A3, aldehyde dehydrogenase 1 family, member A3, aldehyde dehydrogenase family 1, subfamily A3, Aldh1a, ALDH1A6, ALDH6, ALDHA3, LOC145757, MCOP8, RALDH3, Retinaldehyde Dehydrogenase 3, V1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALDH1A3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Aldehyde dehydrogenase family
- hormone binding
- retinal dehydrogenase
- aldehyde dehydrogenase
- aldehyde dehydrogenase, Rv0768 family
- enzyme
- delta-1-pyrroline-5-carboxylate dehydrogenase (PutA C-terminal domain)
- NAD(P)+-dependent aldehyde dehydrogenase superfamily
- NAD or NADH binding
- betaine-aldehyde dehydrogenase
- binding protein
- aldehyde dehydrogenase [NAD(P)]
- aldehyde dehydrogenase (NAD)
- succinate-semialdehyde dehydrogenase
- protein homodimerization
- delta-1-pyrroline-5-carboxylate dehydrogenase, group 2, putative
- 2-hydroxymuconic semialdehyde dehydrogenase
- methylmalonic acid semialdehyde dehydrogenase
Pathways
Biological processes and signaling networks where the ALDH1A3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dyspnea
- persistent hyperplastic primary vitreous
- lung adenocarcinoma
- lung adenocarcinoma formation
- choanal atresia
- organismal death
- breast cancer
- isolated microphthalmia type 8
- sporadic parathyroid adenoma
- parathyroid adenoma
role in cell
- cell viability
- ubiquitination in
- apoptosis
- proliferation
- migration
- expression in
- cell death
- sprouting
- colony formation
- gemcitabine sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALDH1A3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- olfactory pit development
- righting reflex
- nucleus accumbens development
- embryonic camera-type eye development
- optic cup morphogenesis involved in camera-type eye development
- retinol metabolic process
- retinoic acid metabolic process
- retinal metabolic process
- face development
- retinoic acid biosynthetic process
- protein homotetramerization
- locomotory behavior
- embryonic eye morphogenesis
- Harderian gland development
- inner ear morphogenesis
- positive regulation of apoptotic process
- apoptotic process
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- aldehyde dehydrogenase (NAD) activity
- protein homodimerization activity
- aldehyde dehydrogenase [NAD(P)+] activity
- retinal dehydrogenase activity
- thyroid hormone binding
- NAD+ binding