ALAS1 Gene Summary [Human]
This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Details
| Type | Protein Coding |
| Official Symbol | ALAS1 |
| Official Name | 5'-aminolevulinate synthase 1 [Source:HGNC Symbol;Acc:HGNC:396] |
| Ensembl ID | ENSG00000023330 |
| Bio databases IDs | |
| Aliases | 5'-aminolevulinate synthase 1 |
| Synonyms | 5'-aminolevulinate synthase 1, ALA-S, ALAS3, ALAS-H, ALAS-N, aminolevulinic acid synthase 1, Delta Alas, Delta Aminolevulinate Synthase, MIG4, δ Alas, δ Aminolevulinate Synthase |
| 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 ALAS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 8-amino-7-oxononanoate synthase
- 5-aminolevulinic acid synthase
- 5-aminolevulinate synthase
- 5-aminolevulinate synthase presequence
- cysteine-proline dipeptide repeat motif
- AAT_I
- enzyme
- protein binding
- Aminotransferase class I and II
- identical protein binding
Pathways
Biological processes and signaling networks where the ALAS1 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
- non-insulin-dependent diabetes mellitus
- Huntington disease
- depressive disorder
- endometrial cancer
- porphyria variegata
- acute porphyria
- colorectal cancer
- acute intermittent porphyria
- delta-aminolevulinate dehydratase porphyria
- Crohn disease
role in cell
- expression in
- binding in
- oxidation in
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALAS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heme O biosynthetic process
- heme biosynthetic process
- heme a biosynthetic process
- hemoglobin biosynthetic process
- erythrocyte development
- protoporphyrinogen IX biosynthetic process
- heme b biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- identical protein binding
- protein binding
- 5-aminolevulinate synthase activity