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. Predicted to be involved in cysteine biosynthetic process from serine; cysteine biosynthetic process via cystathionine; and homocysteine metabolic process. Predicted to be located in cytoplasm and nucleus. 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 several diseases, including cerebral infarction; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase).
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
Allele Type Localization Consequence Mutagen Supplier
sa10945Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
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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
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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 Tryptophan synthase beta chain-like, PALP domain
Domain IPR046353 Cystathionine beta-synthase, C-terminal domain
Family IPR005857 Cystathionine beta-synthase
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Domain Details Per Protein
Protein Additional Resources Length CBS domain CBS domain superfamily Cystathionine beta-synthase Cystathionine beta-synthase, C-terminal domain Cysteine synthase/Cystathionine beta-synthase 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 InterPro 571
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 1
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript cbsa-202 (1) Ensembl 794 nt
mRNA cbsa-201 (1) Ensembl 2,845 nt
mRNA cbsa-204 (1) Ensembl 2,253 nt
ncRNA cbsa-002 (1) Ensembl 730 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-237A6ZFIN Curated Data
EncodescDNAMGC:110199ZFIN Curated Data
EncodescDNAMGC:174292ZFIN Curated Data
EncodescDNAMGC:191566ZFIN Curated Data
EncodescDNAMGC:198204ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCBS21
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseCbs17
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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