Gene
alas2
- ID
- ZDB-GENE-001229-1
- Name
- aminolevulinate, delta-, synthase 2
- Symbol
- alas2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have 5-aminolevulinate synthase activity. Involved in heme biosynthetic process; hemoglobin biosynthetic process; and hemopoiesis. Predicted to localize to mitochondrial inner membrane. Used to study sideroblastic anemia. Human ortholog(s) of this gene implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Is expressed in erythroid progenitor cell; hematopoietic system; mesoderm; and pronephric duct. Orthologous to human ALAS2 (5'-aminolevulinate synthase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 47 figures from 34 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:65747 (5 images)
- cb1063 (3 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| erythropoietic protoporphyria | Alliance | Protoporphyria, erythropoietic, X-linked | 300752 |
| sideroblastic anemia 1 | Alliance | Anemia, sideroblastic, 1 | 300751 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| sideroblastic anemia | alas2ty121/ty121 | standard conditions | Brownlie et al., 1998 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR001917 | Aminotransferase, class-II, pyridoxal-phosphate binding site |
| Domain | IPR004839 | Aminotransferase, class I/classII, large domain |
| Domain | IPR010961 | Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase |
| Domain | IPR015118 | 5-aminolevulinate synthase presequence |
| Family | IPR050087 | 8-amino-7-oxononanoate synthase class-II |
| Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
| Protein | Length | 5-aminolevulinate synthase presequence | 8-amino-7-oxononanoate synthase class-II | Aminotransferase, class I/classII, large domain | Aminotransferase, class-II, pyridoxal-phosphate binding site | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain | Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q9YHT4
|
583 |
Interactions and Pathways
No data available
Plasmids
No data available