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

Gene ID: 875, updated on 8-Oct-2017
Official Symbol
CBSprovided by HGNC
Official Full Name
cystathionine-beta-synthaseprovided by HGNC
Primary source
HGNC:HGNC:1550
See related
Ensembl:ENSG00000160200 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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Orthologs
Location:
21q22.3
Exon count:
26
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (43053190..43076868, 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 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

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
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
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog
Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
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
S-adenosyl-L-methionine binding IDA
Inferred from Direct Assay
more info
PubMed 
carbon monoxide binding IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
nitric oxide binding IDA
Inferred from Direct Assay
more info
PubMed 
nitrite reductase (NO-forming) activity IDA
Inferred from Direct Assay
more info
PubMed 
oxygen binding IDA
Inferred from Direct Assay
more info
PubMed 
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
DNA protection IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
cysteine biosynthetic process IDA
Inferred from Direct Assay
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
 
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
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
transsulfuration TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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
beta-thionase
methylcysteine synthase
serine sulfhydrase
NP_000062.1
NP_001171479.1
NP_001171480.1
NP_001307227.1
NP_001308001.1
XP_011528075.1
XP_011528076.1
XP_011528077.1
XP_011528078.1
XP_011528079.1
XP_011528083.1
XP_011528084.1
XP_011528085.1
XP_016883978.1
XP_016883979.1
XP_016883980.1
XP_016883981.1
XP_016883982.1

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 RefSeqGene

    Range
    4569..27740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_777

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000062.1

    Status: REVIEWED

    Source sequence(s)
    AL137314, BC000440, DC300040, X82166
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P0DN79, P35520
    UniProtKB/TrEMBL
    Q9NTF0
    Related
    ENSP00000381231.3, OTTHUMP00000109417, ENST00000398165.7, OTTHUMT00000195525
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  2. NM_001178008.2NP_001171479.1  cystathionine beta-synthase isoform 1

    See identical proteins and their annotated locations for NP_001171479.1

    Status: REVIEWED

    Source sequence(s)
    BC000440, BC010242, HY151461, L19501
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P0DN79, P35520
    Related
    ENSP00000344460.5, OTTHUMP00000109415, ENST00000352178.9, OTTHUMT00000195523
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  3. NM_001178009.2NP_001171480.1  cystathionine beta-synthase isoform 1

    See identical proteins and their annotated locations for NP_001171480.1

    Status: REVIEWED

    Source sequence(s)
    BC000440, BC010242, HY151461, L19501
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P0DN79, P35520
    Related
    ENSP00000352643.3, OTTHUMP00000109416, ENST00000359624.7, OTTHUMT00000195524
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  4. NM_001320298.1NP_001307227.1  cystathionine beta-synthase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK294608, BC000440, DC315340
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P0DN79, P35520
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  5. NM_001321072.1NP_001308001.1  cystathionine beta-synthase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) initiates translation at an alternate start codon compared to variant 1.
    Source sequence(s)
    AP001630
    Conserved Domains (3) summary
    cd01561
    Location:1278
    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:314438
    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:1439
    cysta_beta; cystathionine beta-synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

    Range
    43053190..43076868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028492.1XP_016883981.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    P0DN79, P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  2. XM_017028491.1XP_016883980.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    P0DN79, P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  3. XM_011529776.2XP_011528078.1  cystathionine beta-synthase isoform X2

    See identical proteins and their annotated locations for XP_011528078.1

    Conserved Domains (3) summary
    cd01561
    Location:112400
    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:436560
    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:112561
    cysta_beta; cystathionine beta-synthase
  4. XM_011529774.2XP_011528076.1  cystathionine beta-synthase isoform X1

    See identical proteins and their annotated locations for XP_011528076.1

    Conserved Domains (3) summary
    cd01561
    Location:112400
    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:436574
    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:112575
    cysta_beta; cystathionine beta-synthase
  5. XM_011529781.1XP_011528083.1  cystathionine beta-synthase isoform X3

    See identical proteins and their annotated locations for XP_011528083.1

    UniProtKB/Swiss-Prot
    P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76558
    cysta_beta; cystathionine beta-synthase
  6. XM_017028489.1XP_016883978.1  cystathionine beta-synthase isoform X3

    UniProtKB/Swiss-Prot
    P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76558
    cysta_beta; cystathionine beta-synthase
  7. XM_017028490.1XP_016883979.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    P0DN79, P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  8. XM_011529777.1XP_011528079.1  cystathionine beta-synthase isoform X3

    See identical proteins and their annotated locations for XP_011528079.1

    UniProtKB/Swiss-Prot
    P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76558
    cysta_beta; cystathionine beta-synthase
  9. XM_011529782.1XP_011528084.1  cystathionine beta-synthase isoform X3

    See identical proteins and their annotated locations for XP_011528084.1

    UniProtKB/Swiss-Prot
    P35520
    Conserved Domains (1) summary
    TIGR01137
    Location:76558
    cysta_beta; cystathionine beta-synthase
  10. XM_011529783.2XP_011528085.1  cystathionine beta-synthase isoform X6

    Conserved Domains (3) summary
    cd01561
    Location:1278
    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:314452
    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:1453
    cysta_beta; cystathionine beta-synthase
  11. XM_011529775.2XP_011528077.1  cystathionine beta-synthase isoform X2

    See identical proteins and their annotated locations for XP_011528077.1

    Conserved Domains (3) summary
    cd01561
    Location:112400
    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:436560
    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:112561
    cysta_beta; cystathionine beta-synthase
  12. XM_011529773.2XP_011528075.1  cystathionine beta-synthase isoform X1

    See identical proteins and their annotated locations for XP_011528075.1

    Conserved Domains (3) summary
    cd01561
    Location:112400
    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:436574
    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:112575
    cysta_beta; cystathionine beta-synthase
  13. XM_017028493.1XP_016883982.1  cystathionine beta-synthase isoform X5

    Conserved Domains (3) summary
    cd01561
    Location:26314
    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:350488
    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:26489
    cysta_beta; cystathionine beta-synthase

RNA

  1. XR_001754916.1 RNA Sequence

  2. XR_001754915.1 RNA Sequence

    Related
    ENST00000461686.5
  3. XR_001754917.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    44034200..44057827 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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