Gene
cbsa
- ID
- ZDB-GENE-050417-367
- Name
- cystathionine beta-synthase a
- Symbol
- cbsa Nomenclature History
- Previous Names
-
- zgc:110199 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have cysteine synthase activity; heme binding activity; and pyridoxal phosphate binding activity. Predicted to be involved in cysteine biosynthetic process from serine; hydrogen sulfide biosynthetic process; and transsulfuration. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in coronary artery disease; homocystinuria; and neural tube defect. Is expressed in several structures, including alar plate midbrain region; digestive system; mesoderm; musculature system; and nervous system. Orthologous to several human genes including CBSL (cystathionine beta-synthase like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110199 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| homocystinuria | Alliance | Homocystinuria, B6-responsive and nonresponsive types | 236200 |
| homocystinuria | Alliance | Thrombosis, hyperhomocysteinemic | 236200 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR001216 | Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site |
| Domain | IPR000644 | CBS domain |
| Domain | IPR001926 | Tryptophan synthase beta chain-like, PALP domain |
| Domain | IPR046353 | Cystathionine beta-synthase, C-terminal domain |
| Family | IPR005857 | Cystathionine beta-synthase |
| Homologous_superfamily | IPR036052 | Tryptophan synthase beta chain-like, PALP domain superfamily |
| Homologous_superfamily | IPR046342 | CBS domain superfamily |
Domain Details Per Protein
| Protein | Length | CBS domain | CBS domain superfamily | Cystathionine beta-synthase | Cystathionine beta-synthase, C-terminal domain | Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site | Tryptophan synthase beta chain-like, PALP domain | Tryptophan synthase beta chain-like, PALP domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A9JT04
|
571 |
Interactions and Pathways
No data available
Plasmids
No data available