ALDH18A1 Gene Summary [Human]
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALDH18A1 |
| Official Name | aldehyde dehydrogenase 18 family member A1 [Source:HGNC Symbol;Acc:HGNC:9722] |
| Ensembl ID | ENSG00000059573 |
| Bio databases IDs | |
| Aliases | aldehyde dehydrogenase 18 family member A1, delta-1-pyrroline-5-carboxylate synthase |
| Synonyms | 2810433K04Rik, ADCL3, aldehyde dehydrogenase 18 family member A1, aldehyde dehydrogenase 18 family, member A1, ARCL3A, Delta-1-pyrroline-5-carboxylate dehydrogenase, glutamate gamma-semialdehyde synthetase, glutamate γ-semialdehyde synthetase, GPR, GSAS, LOC108348083, P5CS, PYCS, Pyrroline 5 Carboxylate Synthetase Long Isoform, SPG9, SPG9A, SPG9B, δ-1-pyrroline-5-carboxylate dehydrogenase |
| 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 ALDH18A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Aldehyde dehydrogenase family
- glutamate 5-kinase
- glutamate-5-semialdehyde dehydrogenase
- gamma-glutamyl phosphate reductase
- protein binding
- delta l-pyrroline-5-carboxylate synthetase
- identical protein binding
- AAK
- Amino acid kinase family
- NAD(P)+-dependent aldehyde dehydrogenase superfamily
Pathways
Biological processes and signaling networks where the ALDH18A1 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
- neoplasia
- hereditary disorder
- autosomal recessive cutis laxa type 3A
- autosomal dominant spastic paraplegia type 9
- autosomal recessive spastic paraplegia type 9B
- autosomal dominant cutis laxa type 3
- P5CS deficiency
- early onset hypertension
- hereditary spastic paraplegia
- hereditary spastic paraplegia 5A
regulates
- amino acids
- L-glutamic acid
- L-proline
- citrulline
- L-ornithine
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
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALDH18A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glutamate metabolic process
- ornithine biosynthetic process
- response to temperature stimulus
- citrulline biosynthetic process
- proline biosynthetic process
- L-proline biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- RNA binding
- glutamate 5-kinase activity
- protein binding
- glutamate-5-semialdehyde dehydrogenase activity