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

    Gene ID: 875, updated on 7-Aug-2022

    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
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    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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cysteine biosynthetic process IDA
    Inferred from Direct Assay
    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