Aldh4a1 Gene Summary [Mouse]
Enables 1-pyrroline-5-carboxylate dehydrogenase activity. Predicted to be involved in proline catabolic process to glutamate. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; integumental system; metanephros; and respiratory system. Human ortholog(s) of this gene implicated in hyperprolinemia type 2. Orthologous to human ALDH4A1 (aldehyde dehydrogenase 4 family member A1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Aldh4a1 |
| Official Name | aldehyde dehydrogenase 4 family, member A1 [Source:MGI Symbol;Acc:MGI:2443883] |
| Ensembl ID | ENSMUSG00000028737 |
| Bio databases IDs | |
| Aliases | aldehyde dehydrogenase 4 family, member A1 |
| Synonyms | A930035F14RIK, Ahd-1, aldehyde dehydrogenase 4 family member A1, aldehyde dehydrogenase 4 family, member A1, ALDH4, Aldh5a1, E330022C09, P5CD, P5CDh, P5cdhl, P5cdhs, Ssdh1 |
| Species | Mouse, Mus musculus |
| 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 mouse Aldh4a1 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
- electron carrier
- delta-1-pyrroline-5-carboxylate dehydrogenase, group 1
- aldehyde dehydrogenase (NAD)
- enzyme
- 1-pyrroline-5-carboxylate dehydrogenase
- protein binding
- identical protein binding
- delta-1-pyrroline-5-carboxylate dehydrogenase, group 2, putative
- delta-1-pyrroline-5-carboxylate dehydrogenase (PutA C-terminal domain)
- NAD(P)+-dependent aldehyde dehydrogenase superfamily
Pathways
Biological processes and signaling networks where the Aldh4a1 gene in mouse 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
- Alzheimer disease
- epithelial cancer
- diabetic nephropathy
- liver cancer
- deficiency of pyrroline-5-carboxylate reductase
- hepatitis B virus-related hepatocellular carcinoma
- androgenic alopecia
- anorexia nervosa
regulates
- L-proline
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
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Aldh4a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 4-hydroxyproline catabolic process
- proline metabolic process
- proline catabolic process
- proline catabolic process to glutamate
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- aldehyde dehydrogenase (NAD) activity
- 1-pyrroline-5-carboxylate dehydrogenase activity
- identical protein binding
- protein binding
- electron carrier activity