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
Expression
All Expression Data
10 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cbsa Human Ortholog
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
Associated With cbsa Via Experimental Models
No data available
Gene Ontology
Protein Domains
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 Pyridoxal-phosphate dependent enzyme
Family IPR005857 Cystathionine beta-synthase
Homologous_superfamily IPR036052 Tryptophan synthase beta subunit-like PLP-dependent enzyme
Domain Details Per Protein
Protein Length CBS domain Cystathionine beta-synthase Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site Pyridoxal-phosphate dependent enzyme Tryptophan synthase beta subunit-like PLP-dependent enzyme
UniProtKB:A9JT04 571
UniProtKB:A0A2R8QM05 571
UniProtKB:B7ZV69 571
UniProtKB:E9QG18 84
UniProtKB:I6L9H3 349
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations