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Cbs
Gene Detail
 Symbol
Name
ID
Cbs
cystathionine beta-synthase
MGI:88285
Synonyms HIP4, MGC:18856, MGC:18895, MGC:37300
Feature Type protein coding gene
Genetic Map
Chromosome 17
16.93 cM, cytoband A-C
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr17:31612623-31637199 bp, - strand
From VEGA annotation of GRCm38

  24577 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37258  Vertebrate Homology Class
2 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: cystathionine beta-synthase
Gene Tree: Cbs

Human
homologs
Human Homolog CBS, cystathionine-beta-synthase
NCBI Gene ID 875
neXtProt AC  NX_P35520
Human Synonyms  HIP4
Human Chr (Location)  21q22.3; chr21:43053191-43076362 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CBS
Human Homolog LOC102724560, cystathionine beta-synthase-like
NCBI Gene ID 102724560
neXtProt AC  NX_P35520
Human Chr (Location)  chr21:6444869-6467507 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(5)
Genomic Mutations involving Cbs (4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, but survive and breed.
 
Human Diseases Modeled Using Mouse Cbs (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Cbs interacts with 85 markers (Mir22, Mir27a, Mir27b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process blood vessel remodeling, cartilage development involved in endochondral bone morphogenesis, ...
Component cytoplasm, cytosol, ...
Function cystathionine beta-synthase activity, enzyme binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (210)    Tissues (133)    Images (8)
Theiler Stages: 13, 15, 17, 20, 22, 23, 26, 27, 28
Assay TypeResults
RNA in situ 188
RT-PCR 22
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) Genomic(6) cDNA(15) Primer pair(3)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000030973 (Evidence)
Ensembl Gene ModelENSMUSG00000024039 (Evidence)
Entrez Gene12411 (Evidence)
DFCITC1575424, TC1589821, TC1733742, TC1747757
DoTSDT.101311742, DT.491153, DT.94367696
NIA Mouse Gene IndexU037653
EC4.2.1.22
Consensus CDS ProjectCCDS28609.1, CCDS28610.1
International Mouse Knockout Project StatusCbs
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030973 VEGA Gene Model | MGI Sequence Detail 24577 C57BL/6J ±  kb
transcript OTTMUST00000076693 VEGA | MGI Sequence Detail 2497 Not Applicable 
polypeptide OTTMUSP00000040415 VEGA | MGI Sequence Detail 561 Not Applicable 

For the selected sequences
All sequences(78) RefSeq(12) UniProt(4)
Polymorphisms SNPs within 2kb(158 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005857 Cystathionine beta-synthase
InterPro IPR000644 Cystathionine beta-synthase, core
InterPro IPR001216 Cysteine synthase/cystathionine beta-synthase P-phosphate-binding site
InterPro IPR001926 Tryptophan synthase beta subunit-like PLP-dependent enzymes superfamily
Protein Ontology PR:000005081 cystathionine beta-synthase
References (Earliest) J:20084 Kraus JP, et al., Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A. 1986 Apr;83(7):2047-51
(Latest) J:211078 Akahoshi N, et al., Neutral aminoaciduria in cystathionine beta-synthase-deficient mice, an animal model of homocystinuria. Am J Physiol Renal Physiol. 2014 Jun 15;306(12):F1462-76
All references(127)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-1788, MGI:2146792, MGI:2146817

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory