Gene
cbsb
- ID
- ZDB-GENE-021030-3
- Name
- cystathionine beta-synthase b
- Symbol
- cbsb Nomenclature History
- Previous Names
-
- cbs
- cb442 (1)
- wu:fb37g05
- wu:fm61c07
- wu:fq06c06
- zgc:113704
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have cysteine synthase activity; heme binding activity; and pyridoxal phosphate binding activity. Involved in axis elongation and regulation of homocysteine metabolic process. 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 digestive system; germ ring; immature eye; musculature system; and nervous system. Orthologous to human CBS (cystathionine beta-synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb442 (20 images)
- IMAGE:7147404 (15 images)
Wild Type Expression Summary
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:Q5EI65
|
597 |
Interactions and Pathways
No data available
Plasmids