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

    Gene ID: 875, updated on 16-Apr-2016
    Official Symbol
    CBSprovided by HGNC
    Official Full Name
    cystathionine-beta-synthaseprovided by HGNC
    Primary source
    HGNC: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. 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:
    24
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (43053191..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 uncharacterized LOC105372819 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

    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
     
    cysteine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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, OTTHUMP00000109417, ENST00000398165, OTTHUMT00000195525
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419543
      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: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, OTTHUMP00000109415, ENST00000352178, OTTHUMT00000195523
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419543
      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: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, OTTHUMP00000109416, ENST00000359624, OTTHUMT00000195524
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419543
      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: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
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419543
      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: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 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

      Range
      43053191..43076868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529781.1XP_011528083.1  

      See identical proteins and their annotated locations for XP_011528083.1

      UniProtKB/Swiss-Prot
      P35520
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419557
      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:76558
      cysta_beta; cystathionine beta-synthase
    2. XM_011529778.1XP_011528080.1  

      See identical proteins and their annotated locations for XP_011528080.1

      UniProtKB/Swiss-Prot
      P35520
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419557
      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:76558
      cysta_beta; cystathionine beta-synthase
    3. XM_011529777.1XP_011528079.1  

      See identical proteins and their annotated locations for XP_011528079.1

      UniProtKB/Swiss-Prot
      P35520
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419557
      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:76558
      cysta_beta; cystathionine beta-synthase
    4. XM_011529779.1XP_011528081.1  

      See identical proteins and their annotated locations for XP_011528081.1

      UniProtKB/Swiss-Prot
      P35520
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419557
      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:76558
      cysta_beta; cystathionine beta-synthase
    5. XM_011529782.1XP_011528084.1  

      See identical proteins and their annotated locations for XP_011528084.1

      UniProtKB/Swiss-Prot
      P35520
      Conserved Domains (3) summary
      cd01561
      Location:85383
      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:419557
      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:76558
      cysta_beta; cystathionine beta-synthase
    6. XM_011529774.1XP_011528076.1  

      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
    7. XM_011529773.1XP_011528075.1  

      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
    8. XM_011529784.1XP_011528086.1  

      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
    9. XM_011529783.1XP_011528085.1  

      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
    10. XM_011529776.1XP_011528078.1  

      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
    11. XM_011529775.1XP_011528077.1  

      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

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