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Cbs cystathionine beta-synthase [ Mus musculus (house mouse) ]

Gene ID: 12411, updated on 15-Jul-2018
Official Symbol
Cbsprovided by MGI
Official Full Name
cystathionine beta-synthaseprovided by MGI
Primary source
MGI:MGI:88285
See related
Ensembl:ENSMUSG00000024039 Vega:OTTMUSG00000030973
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
HIP4; AI047524; AI303044
Expression
Biased expression in liver adult (RPKM 247.5), ovary adult (RPKM 58.2) and 4 other tissues See more
Orthologs
See Cbs in Genome Data Viewer
Location:
17 B1; 17 16.93 cM
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 17 NC_000083.6 (31612623..31637233, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (31749589..31774086, complement)

Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase core subunit V3 Neighboring gene Pbx/knotted 1 homeobox Neighboring gene ribosomal protein S2, pseudogene 8 Neighboring gene U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Markers

Homology

Clone Names

  • MGC18856, MGC18895, MGC37300

Gene Ontology Provided by MGI

Function Evidence Code Pubs
S-adenosyl-L-methionine binding ISO
Inferred from Sequence Orthology
more info
 
carbon monoxide binding ISO
Inferred from Sequence Orthology
more info
 
cystathionine beta-synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cystathionine beta-synthase activity ISO
Inferred from Sequence Orthology
more info
 
cysteine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding ISO
Inferred from Sequence Orthology
more info
 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding ISO
Inferred from Sequence Orthology
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
lyase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
modified amino acid binding ISO
Inferred from Sequence Orthology
more info
 
nitric oxide binding ISO
Inferred from Sequence Orthology
more info
 
nitrite reductase (NO-forming) activity ISO
Inferred from Sequence Orthology
more info
 
oxygen binding ISO
Inferred from Sequence Orthology
more info
 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyridoxal phosphate binding ISO
Inferred from Sequence Orthology
more info
 
ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
blood vessel remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cartilage development involved in endochondral bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular amino acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia ISO
Inferred from Sequence Orthology
more info
 
cerebellum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cysteine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cysteine biosynthetic process from serine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine biosynthetic process from serine IEA
Inferred from Electronic Annotation
more info
 
cysteine biosynthetic process via cystathionine IEA
Inferred from Electronic Annotation
more info
 
endochondral ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
homocysteine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
homocysteine metabolic process ISO
Inferred from Sequence Orthology
more info
 
hydrogen sulfide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
maternal process involved in female pregnancy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
regulation of JUN kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of blood vessel size IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of nitric oxide mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to folic acid IMP
Inferred from Mutant Phenotype
more info
PubMed 
superoxide metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
transsulfuration ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
nucleus ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
cystathionine beta-synthase
Names
beta-thionase
serine sulfhydrase
NP_001258282.1
NP_659104.1
NP_835742.1
XP_006523612.1
XP_006523613.1
XP_006523614.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271353.1NP_001258282.1  cystathionine beta-synthase isoform 2

    See identical proteins and their annotated locations for NP_001258282.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Both variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.
    Source sequence(s)
    AI644495, AK077669, AK085692, CX241679
    Consensus CDS
    CCDS28610.1
    UniProtKB/Swiss-Prot
    Q91WT9
    Related
    ENSMUSP00000113209.1, OTTMUSP00000040417, ENSMUST00000118504.7, OTTMUST00000076695
    Conserved Domains (3) summary
    cd01561
    Location:82380
    CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...
    cd04608
    Location:415539
    CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...
    TIGR01137
    Location:73540
    cysta_beta; cystathionine beta-synthase
  2. NM_144855.3NP_659104.1  cystathionine beta-synthase isoform 1

    See identical proteins and their annotated locations for NP_659104.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090881, AC166575
    Consensus CDS
    CCDS28609.1
    UniProtKB/Swiss-Prot
    Q91WT9
    Related
    ENSMUSP00000066878.6, OTTMUSP00000040415, ENSMUST00000067801.12, OTTMUST00000076693
    Conserved Domains (3) summary
    cd01561
    Location:82380
    CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...
    cd04608
    Location:415553
    CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...
    TIGR01137
    Location:73554
    cysta_beta; cystathionine beta-synthase
  3. NM_178224.3NP_835742.1  cystathionine beta-synthase isoform 2

    See identical proteins and their annotated locations for NP_835742.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Both variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.
    Source sequence(s)
    AI644495, AK077669, AK085692, CX241679
    Consensus CDS
    CCDS28610.1
    UniProtKB/Swiss-Prot
    Q91WT9
    Related
    ENSMUSP00000077597.5, OTTMUSP00000040416, ENSMUST00000078509.11, OTTMUST00000076694
    Conserved Domains (3) summary
    cd01561
    Location:82380
    CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...
    cd04608
    Location:415539
    CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...
    TIGR01137
    Location:73540
    cysta_beta; cystathionine beta-synthase

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000083.6 Reference GRCm38.p4 C57BL/6J

    Range
    31612623..31637233 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523550.3XP_006523613.1  cystathionine beta-synthase isoform X1

    See identical proteins and their annotated locations for XP_006523613.1

    UniProtKB/Swiss-Prot
    Q91WT9
    Conserved Domains (3) summary
    cd01561
    Location:82380
    CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...
    cd04608
    Location:415553
    CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...
    TIGR01137
    Location:73554
    cysta_beta; cystathionine beta-synthase
  2. XM_006523551.3XP_006523614.1  cystathionine beta-synthase isoform X1

    See identical proteins and their annotated locations for XP_006523614.1

    UniProtKB/Swiss-Prot
    Q91WT9
    Conserved Domains (3) summary
    cd01561
    Location:82380
    CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...
    cd04608
    Location:415553
    CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...
    TIGR01137
    Location:73554
    cysta_beta; cystathionine beta-synthase
  3. XM_006523549.3XP_006523612.1  cystathionine beta-synthase isoform X1

    See identical proteins and their annotated locations for XP_006523612.1

    UniProtKB/Swiss-Prot
    Q91WT9
    Conserved Domains (3) summary
    cd01561
    Location:82380
    CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...
    cd04608
    Location:415553
    CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...
    TIGR01137
    Location:73554
    cysta_beta; cystathionine beta-synthase
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