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CBS cystathionine-beta-synthase [ Homo sapiens (human) ]

Gene ID: 875, updated on 13-Jul-2014
Official Symbol
CBSprovided by HGNC
Official Full Name
cystathionine-beta-synthaseprovided by HGNC
Primary source
HGNC:1550
See related
Ensembl:ENSG00000160200; HPRD:01994; MIM:613381; Vega:OTTHUMG00000086834
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HIP4
Summary
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
Location:
21q22.3
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 21 NC_000021.9 (43053191..43076362, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44473301..44496472, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene microRNA 5692b Neighboring gene uncharacterized LOC102724969 Neighboring gene PBX/knotted 1 homeobox 1 Neighboring gene uncharacterized LOC101928369 Neighboring gene U2 small nuclear RNA auxiliary factor 1 Neighboring gene mitochondrial ribosomal protein L51 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
adenyl nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
cystathionine beta-synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
cystathionine beta-synthase activity TAS
Traceable Author Statement
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
modified amino acid binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
L-cysteine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-serine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-serine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
cartilage development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cerebellum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
homocysteine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
homocysteine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen sulfide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen sulfide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of JUN kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of blood vessel size IEA
Inferred from Electronic Annotation
more info
 
regulation of cGMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
response to folic acid IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
transsulfuration TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cystathionine beta-synthase
Names
cystathionine beta-synthase
beta-thionase
serine sulfhydrase
methylcysteine synthase
NP_000062.1
NP_001171479.1
NP_001171480.1

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.

Genomic

  1. NG_008938.1 

    Range
    4569..27740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000071.2NP_000062.1  cystathionine beta-synthase

    See proteins identical to NP_000062.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variants 2 and 3 encode the same protein.
    Source sequence(s)
    AL137314, BC000440, DC300040, X82166
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P35520
    UniProtKB/TrEMBL
    Q9NTF0
    Related
    ENSP00000381231, OTTHUMP00000109417, ENST00000398165, OTTHUMT00000195525
    Conserved Domains (3) summary
    cd01561
    Location:85383
    Blast Score: 1209
    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. ...
    TIGR01137
    Location:76544
    Blast Score: 2092
    cysta_beta; cystathionine beta-synthase
    cd04608
    Location:419543
    Blast Score: 530
    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 ...
  2. NM_001178008.1NP_001171479.1  cystathionine beta-synthase

    See proteins identical to NP_001171479.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1.
    Source sequence(s)
    AL531222, BC000440, BC007257, BC010242, L19501
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P35520
    Related
    ENSP00000344460, OTTHUMP00000109415, ENST00000352178, OTTHUMT00000195523
    Conserved Domains (3) summary
    cd01561
    Location:85383
    Blast Score: 1209
    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. ...
    TIGR01137
    Location:76544
    Blast Score: 2092
    cysta_beta; cystathionine beta-synthase
    cd04608
    Location:419543
    Blast Score: 530
    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 ...
  3. NM_001178009.1NP_001171480.1  cystathionine beta-synthase

    See proteins identical to NP_001171480.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR exon and lacks an internal segment in the 3' UTR, as compared to variant 1.
    Source sequence(s)
    AL531222, BC000440, BC007257
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P35520
    Related
    ENSP00000352643, OTTHUMP00000109416, ENST00000359624, OTTHUMT00000195524
    Conserved Domains (3) summary
    cd01561
    Location:85383
    Blast Score: 1209
    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. ...
    TIGR01137
    Location:76544
    Blast Score: 2092
    cysta_beta; cystathionine beta-synthase
    cd04608
    Location:419543
    Blast Score: 530
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000021.9 

    Range
    43053191..43076362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724057.1XP_006724120.1  

    See proteins identical to XP_006724120.1

    UniProtKB/Swiss-Prot
    P35520
    Conserved Domains (3) summary
    cd01561
    Location:85383
    Blast Score: 1209
    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. ...
    TIGR01137
    Location:76544
    Blast Score: 2092
    cysta_beta; cystathionine beta-synthase
    cd04608
    Location:419543
    Blast Score: 530
    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 ...

Alternate HuRef

Genomic

  1. AC_000153.1 

    Range
    29891797..29914621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 

    Range
    44034200..44057328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)