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 enable cystathionine beta-synthase activity and cysteine synthase activity. Predicted to be involved in cysteine biosynthetic process from serine. Predicted to act upstream of or within cysteine biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including alar plate midbrain region; digestive system; mesoderm; musculature system; and nervous system. Human ortholog(s) of this gene implicated in coronary artery disease; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase).
- 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