U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 875, updated on 8-Jan-2023

Summary

Official Symbol
CBSprovided by HGNC
Official Full Name
cystathionine beta-synthaseprovided by HGNC
Primary source
HGNC:HGNC:1550
See related
Ensembl:ENSG00000160200 MIM:613381; AllianceGenome:HGNC:1550
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
CBSL; 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]
Expression
Biased expression in liver (RPKM 30.2), brain (RPKM 11.6) and 6 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CBS in Genome Data Viewer
Location:
21q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43053191..43076873, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44473301..44496983, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905024 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
EBI GWAS Catalog
Genome-wide association study of selenium concentrations.
EBI GWAS 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.
EBI GWAS 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.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-adenosyl-L-methionine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables carbon monoxide binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cystathionine beta-synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cystathionine beta-synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cysteine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables heme binding IDA
Inferred from Direct Assay
more info
PubMed 
enables heme binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ion binding EXP
Inferred from Experiment
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables modified amino acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables nitric oxide binding IDA
Inferred from Direct Assay
more info
PubMed 
enables nitrite reductase (NO-forming) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables oxygen binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA protection IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in L-cysteine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-serine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-serine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in blood vessel diameter maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in cartilage development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cysteine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cysteine biosynthetic process from serine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cysteine biosynthetic process from serine IEA
Inferred from Electronic Annotation
more info
 
involved_in cysteine biosynthetic process via cystathionine IEA
Inferred from Electronic Annotation
more info
 
involved_in endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in homocysteine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in homocysteine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hydrogen sulfide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hydrogen sulfide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of JUN kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in response to folic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in transsulfuration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol HDA PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cystathionine beta-synthase
Names
Cystathionine beta-synthase-like protein
beta-thionase
methylcysteine synthase
serine sulfhydrase
NP_000062.1
NP_001171479.1
NP_001171480.1
NP_001307227.1
NP_001308001.1
XP_011528076.1
XP_011528079.1
XP_011528085.1
XP_016883980.1
XP_047296973.1
XP_047296974.1
XP_047296975.1
XP_047296976.1
XP_047296977.1
XP_047296978.1
XP_047296979.1
XP_047296980.1
XP_047296981.1
XP_047296982.1
XP_047296983.1
XP_047296984.1
XP_047296985.1
XP_047296986.1
XP_047296987.1
XP_047296988.1
XP_047296989.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_000071.3NP_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, Q9BWC5
    UniProtKB/TrEMBL
    Q9NTF0
    Related
    ENSP00000381231.4, ENST00000398165.8
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  2. NM_001178008.3NP_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, Q9BWC5
    Related
    ENSP00000344460.5, ENST00000352178.9
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  3. NM_001178009.3NP_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, Q9BWC5
    Related
    ENSP00000352643.3, ENST00000359624.7
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  4. NM_001320298.2NP_001307227.1  cystathionine beta-synthase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK294608, AP001630, BC000440, DC315340
    Consensus CDS
    CCDS13693.1
    UniProtKB/Swiss-Prot
    P0DN79, P35520, Q9BWC5
    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
    Related
    ENST00000461686.5
    Conserved Domains (1) summary
    TIGR01137
    Location:1439
    cysta_beta; cystathionine beta-synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    43053191..43076873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441030.1XP_047296986.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    Q9BWC5
  2. XM_047441024.1XP_047296980.1  cystathionine beta-synthase isoform X3

  3. XM_047441025.1XP_047296981.1  cystathionine beta-synthase isoform X3

  4. XM_047441021.1XP_047296977.1  cystathionine beta-synthase isoform X3

  5. XM_047441031.1XP_047296987.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    Q9BWC5
  6. XM_047441027.1XP_047296983.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    Q9BWC5
  7. XM_047441023.1XP_047296979.1  cystathionine beta-synthase isoform X3

  8. XM_017028491.3XP_016883980.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    P0DN79, P35520, Q9BWC5
    Conserved Domains (1) summary
    TIGR01137
    Location:76544
    cysta_beta; cystathionine beta-synthase
  9. XM_047441020.1XP_047296976.1  cystathionine beta-synthase isoform X3

  10. XM_011529777.2XP_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
  11. XM_047441028.1XP_047296984.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    Q9BWC5
  12. XM_047441029.1XP_047296985.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    Q9BWC5
  13. XM_047441026.1XP_047296982.1  cystathionine beta-synthase isoform X4

    UniProtKB/Swiss-Prot
    Q9BWC5
  14. XM_047441022.1XP_047296978.1  cystathionine beta-synthase isoform X3

  15. XM_047441033.1XP_047296989.1  cystathionine beta-synthase isoform X7

  16. 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
  17. XM_047441019.1XP_047296975.1  cystathionine beta-synthase isoform X2

  18. XM_047441018.1XP_047296974.1  cystathionine beta-synthase isoform X2

  19. XM_011529774.3XP_011528076.1  cystathionine beta-synthase isoform X1

    See identical proteins and their annotated locations for XP_011528076.1

    Conserved Domains (1) summary
    TIGR01137
    Location:112575
    cysta_beta; cystathionine beta-synthase
  20. XM_047441017.1XP_047296973.1  cystathionine beta-synthase isoform X1

  21. XM_047441032.1XP_047296988.1  cystathionine beta-synthase isoform X5

RNA

  1. XR_001754915.2 RNA Sequence

  2. XR_007067793.1 RNA Sequence