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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: CBS, CBSL
Protein SuperFamily: cystathionine beta-synthase
Gene Tree: Cbs

Human
homologs
CBS, cystathionine-beta-synthase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 875
neXtProt AC: NX_P35520

Human Synonyms: HIP4

Human Chr (Location): 21q22.3; chr21:43053191-43076868 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CBS

  1 More Homolog(s):
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(1) Targeted(5) Transgenic(1)
Genomic Mutations involving Cbs (4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Cbs (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Cbs interacts with 85 markers (Mir22, Mir27a, Mir27b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (8 records)
Data Summary: Results (210)    Tissues (133)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 188
RT-PCR 22
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA CBS ; Xenbase cbs ; ZFIN cbsa, cbsb    NEW 
Molecular
reagents
All nucleic(24) Genomic(6) cDNA(15) Primer pair(3)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000030973 (Evidence)
Ensembl Gene Model ENSMUSG00000024039 (Evidence)
Entrez Gene 12411 (Evidence)
DFCI TC1575424, TC1589821, TC1733742, TC1747757
DoTS DT.101311742, DT.491153, DT.94367696
NIA Mouse Gene Index U037653
EC 4.2.1.22
Consensus CDS Project CCDS28609.1, CCDS28610.1
International Mouse Phenotyping Consortium Status Cbs
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 IPR000644 CBS domain
InterPro IPR005857 Cystathionine beta-synthase
InterPro IPR001216 Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site
InterPro IPR001926 Tryptophan synthase beta subunit-like PLP-dependent enzyme
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:219211 Hagiya Y, et al., Hemizygosity of transsulfuration genes confers increased vulnerability against acetaminophen-induced hepatotoxicity in mice. Toxicol Appl Pharmacol. 2015 Jan 15;282(2):195-206
All references(130)
Disease annotation references (10)
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
08/25/2015
MGI 6.0
The Jackson Laboratory