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CBS Gene

protein-coding   GIFtS: 71

GC21M029891
cystathionine-beta-synthase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase, and/or 9Nature:405,311-319 and CroW21)
About This Section

Aliases & Descriptions
cystathionine-beta-synthase1 2     cystathionine beta-synthase2
HIP41 2     methylcysteine synthase2
Serine sulfhydrase2 3     Beta-thionase3
OTTHUMP000001094162     EC 4.2.1.223
beta-thionase2     human cystathionine-beta-synthase, EC 4.2.1.229

External Ids:    HGNC: 15501   Entrez Gene: 8752   Ensembl: ENSG000001602007   UniProtKB: P355203   

Export aliases for CBS gene to outside databases

Previous GC identifers: GC21M041021 GC21M043367 GC21M043346 GC21M044473


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CBS:
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)

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
Function: Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide,
especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen
sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the
brain to protect neurons against hypoxic injury (By similarity)

Gene Wiki entry for CBS (Cystathionine beta synthase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBS gene promoter:
         GR-alpha   Sp1   GR-beta   E47   Meis-1   STAT5A   AP-4   CUTL1   CP1A   CP1C   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CBS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CBS 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
CBS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBS gene location
GeneLoc gene densities for chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M029891:   GeneLoc Nature:405,311-319
Start:
29,891,797 bp from pter       30,020,629 bp from centromere
End:
29,914,621 bp from pter 30,035,840 bp from centromere
Size:
22,825 bases 15,212 bases
Orientation:
minus strand minus strand

1 alternative location:
Chr21- 44,473,301-44,497,053     
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  

Whole chromosome sequencing:
cDNA sequence: L00972
genomic clones: KB1151C12 KB2007G4


(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520 (See protein sequence)
Recommended Name: Cystathionine beta-synthase  
Size: 551 amino acids; 60587 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer
Subcellular location: Cytoplasm. Nucleus
PDB structure from and Proteopedia :
1JBQ (3D)    1M54 (3D)    
Secondary accessions: B2R993 Q99425 Q9BWC5
Alternative splicing: 2 isoforms:  P35520-1   P35520-2   

Explore the universe of human proteins at neXtProt for CBS: NX_P35520 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_000062.1  NP_001171479.1  NP_001171480.1  


    ENSEMBL proteins: 
    ENSP00000405929 ENSP00000381234 ENSP00000402823 ENSP00000352643 ENSP00000381231 ENSP00000344460 
    ENSP00000388235 ENSP00000381225 ENSP00000408014 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: CBS
    OriGene Protein Over-expression Lysate: CBS
    GenScript Custom Purified and Recombinant Proteins Services for CBS 
    Novus Biologicals Proteins for CBS
    Novus Biologicals Lysates for CBS
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction ----
    GO:0005634 nucleus IDA17087506
    GO:0005730 nucleolus IDA18029348
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol IDA16780588
    About this table

    CBS for ontologies           About GeneDecksing



    Antibodies for CBS: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for CBS
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for CBS 
    Novus Biologicals Antibodies for CBS
    Epitomics antibodies for CBS

    Assays for CBS: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CBS 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CBS for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR005857 Cysta_beta_synth
     IPR000644 Cysta_beta_synth_core
     IPR001216 Cys_synth_BS
     IPR001926 PyrdxlP-dep_enz_bsu

    Graphical View of Domain Structure for InterPro Entry P35520

    ProtoNet protein and cluster: P35520

    2 Blocks protein families:
    IPB000644 CBS domain
    IPB001926 Pyridoxal-5'-phosphate-dependent enzyme


    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
    Similarity: Belongs to the cysteine synthase/cystathionine beta-synthase family
    Similarity: Contains 1 CBS domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
    Function: Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide,
    especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen
    sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the
    brain to protect neurons against hypoxic injury (By similarity)
    Catalytic activity: L-serine + L-homocysteine = L-cystathionine + H(2)O
    Enzyme regulation: Allosterically activated by adenosyl-methionine (AdoMet)
    Enzyme Number (IUBMB): EC 4.2.1.22 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CBS
    Sigma-Aldrich shRNA for CBS
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CBS
    OriGene shRNA RFP (see all 3): CBS
    OriGene basic RS shRNA (see all 3): CBS
    OriGene siRNA (see all 3): CBS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBS 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBS 
    Search SABiosciences for Assays for microRNAs that regulate CBS

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): CBS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CBS
    OriGene untagged cDNA clones in CMV expression vector (see all 2): CBS
    OriGene 3'-UTR clone: CBS 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CBS 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for CBS 

    Genatlas biochemistry entry for CBS:
    cystathionine beta synthase gene with several transcripts,alternatively spliced in 5',sulfur aminoacid
    metabolism,susceptibility gene to neural tube defect in association with MTHFR,no evidence of association with NTD in
    Netherlands and U.K.,interacting with huntingtin

    5/11 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824 catalytic activity ----
    GO:0004122 cystathionine beta-synthase activity IDA19010420
    GO:0005515 protein binding IPI17087506
    GO:0016829 lyase activity IEA--
    GO:0019899 enzyme binding IPI17087506
    About this table

    CBS for ontologies           About GeneDecksing

    Animal Models: 15/21 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cbs) (see all 21):

    behavior/neurologicalcardiovascular systemcellularcraniofacialembryogenesis
    endocrine/exocrine glandgrowth/sizehematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallife span-post-weaning/aginglimbs/digits/tailliver/biliary systemmuscle

    CBS for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    CBS for pathways           About GeneDecksing

    1 Millipore Pathway for CBS
        Methionine metabolism

    3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  CBS
        Selenoamino Acid Metabolism
    Glycine, Serine and Threonine Metabolism
    Methionine Metabolism

    4 Kegg Pathways  (Kegg details for CBS):
        hsa00260 Glycine, serine and threonine metabolism
    hsa00270 Cysteine and methionine metabolism
    hsa00450 Selenoamino acid metabolism
    hsa01100 Metabolic pathways

    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
    Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2

        SABiosciences Custom Pathway-Focused PCR Arrays for CBS 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CBS
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBS

    5/23 Interacting proteins for CBS (P355201, 2 ENSP000003444603) via UniProtKB, MINT, and/or STRING (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBSP355201, 2EBI-740135,EBI-740135 MINT-68447
    FXR2P511162MINT-66773
    VTA1Q9NP792MINT-66058
    AHCYENSP000002174263STRING: ENSP00000217426
    BHMTENSP000002743533STRING: ENSP00000274353
    About this table

    5/16 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 16):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001958 endochondral ossification ----
    GO:0006535 cysteine biosynthetic process from serine IEA--
    GO:0006563 L-serine metabolic process IDA19010420
    GO:0006565 L-serine catabolic process IDA18776696
    GO:0008152 metabolic process ----
    About this table

    CBS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    CBS for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CBS
    10/63 Novoseek chemical compound relationships for CBS gene (see all 63)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystathionine 99.2 1037 10052944 (7), 2011158 (5), 11042162 (4), 11742888 (4) (see all 99)
    homocysteine 94.4 421 17971175 (5), 9357926 (4), 10363126 (4), 12529702 (4) (see all 99)
    methionine 87.7 226 8134195 (3), 17937607 (3), 10954028 (2), 11216902 (2) (see all 99)
    vitamin b6 85.8 49 9928444 (2), 9361025 (2), 7981678 (2), 15365998 (2) (see all 27)
    folate 84.4 75 10833331 (3), 19633202 (2), 11569694 (2), 11585023 (2) (see all 49)
    pyridoxal 5-phosphate 81.9 76 10052942 (5), 7929220 (4), 10052944 (4), 11042162 (1) (see all 27)
    s-adenosylmethionine 81.5 91 16614071 (5), 11524006 (4), 8755636 (4), 16953589 (4) (see all 34)
    betaine 76.8 21 12828591 (2), 15017331 (2), 9211201 (1), 9357926 (1) (see all 13)
    vitamin b12 76.2 20 9235230 (1), 11481906 (1), 17686644 (1), 10758367 (1) (see all 15)
    propargylglycine 75.4 4 19631409 (2), 17101327 (1)
    About this table

    1 PharmGKB drug compound relationship for CBS gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    pyridoxinePD  FA  GN  12124992
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CBS
    Sigma-Aldrich shRNA for CBS
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CBS
    OriGene shRNA RFP (see all 3): CBS
    OriGene basic RS shRNA (see all 3): CBS
    OriGene siRNA (see all 3): CBS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBS 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBS 
    Search SABiosciences for Assays for microRNAs that regulate CBS
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): CBS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CBS
    OriGene untagged cDNA clones in CMV expression vector (see all 2): CBS
    OriGene 3'-UTR Clone: CBS 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CBS 
    Primers: OriGene genome-wide validated SYBR primer pairs: CBS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CBS: PPH13484A

    REFSEQ mRNAs for CBS gene (3 alternative transcripts): 

    NM_000071.2  NM_001178008.1  NM_001178009.1  

    Additional cDNA sequence: 

    AK294608.1 AK301063.1 AK313691.1 AL137314.1 BC000440.2 BC007257.1 BC010242.1 BC011381.1 
    BC012319.1 BT007154.1 CR605513.1 CR613114.1 CR624541.1 L00972.1 L14577.1 L19501.1 
    X82166.1 

    21 DOTS entries:

    DT.452726  DT.100810615  DT.97859672  DT.100810602  DT.100810619  DT.121131733  DT.121131732  DT.100810621 
    DT.70103884  DT.121131710  DT.121131727  DT.75182069  DT.95149090  DT.100810612  DT.100810614  DT.121131709 
    DT.91646095  DT.95149085  DT.97859673  DT.99995100  DT.121131717 

    24/312 AceView cDNA sequences (see all 312):

    AI494305 BQ720498 BM478198 BQ691794 BX101034 D16995 AI368618 CR613114 
    BE252944 CD672229 N54505 AA643208 CB162041 AI494295 AI668772 CR605513 
    AI369768 BF507816 AL522542 BI793125 BU552809 BQ225465 BU508699 CD674556 

    highest scoring ESTs for CBS:

    BC007257 L00972 L19501 AA057541 AA057714 AA063180 AA063294 AA136339 AA136426 AA171511 

    Unigene Cluster for CBS:

    Cystathionine-beta-synthase
    Hs.533013  [show with all ESTs]
    Unigene Representative Sequence: L00972


    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for CBS (see all 18)

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^
    SP1:                          -     -     -     -     -     -                                         -     -     -                                   -         
    SP2:                          -     -     -     -     -     -                                         -     -     -                                   -         
    SP3:                                                  -     -                                         -     -     -                                   -         
    SP4:                                                  -     -     -     -                             -     -     -                                   -         
    SP5:                                                                                                                                                  -         

    ExUns: 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b · 22c
    SP1:  -                 -                       -     -                                   -                                       
    SP2:  -                 -                       -     -                                   -                                       
    SP3:  -                 -                       -     -                                   -                                       
    SP4:  -                 -                       -     -                                   -                                       
    SP5:  -                 -                       -     -                                   -                                       

    About this scheme

    ECgene alternative splicing isoforms for CBS
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430013 ENST00000488526 ENST00000398168 ENST00000465732 ENST00000470912
    ENST00000496485 ENST00000451248 ENST00000461686(uc002zcs.1) ENST00000359624(uc002zcw.3)
    ENST00000486098 ENST00000462349 ENST00000478709 ENST00000491776(uc002zcx.2)
    ENST00000398165(uc002zcu.2 uc002zct.2) ENST00000352178(uc002zcv.2)
    ENST00000441030 ENST00000398158 ENST00000458223

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CBS expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching CBS gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38474_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 L00972 0.80 1.00 0.91 1
    212816_s_at2, 3 U133-A 1 1.00 1.00 -- -- BE613178 0.60 1.00 0.82 1
    240517_at2, 3 U133-B 1 0.36 1.00 -- -- BF507816 0.40 1.00 0.76 1
    1553972_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    212816_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    240517_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    CBS for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CBS gene expression
    CBS gene electronic northern expression
    CBS gene sage expression
    About these images

    CGAP SAGE TAG: GCTTCCTAAA

    SOURCE GeneReport for Unigene cluster: Hs.533013

    Expression variation in blood from EXPOLDB for CBS

    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
    Tissue specificity: In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak
    expression in lung and kidney. In the fetus, expressed in brain, liver and kidney

    Primers: OriGene genome-wide validated SYBR primer pairs: CBS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CBS: PPH13484A
        SABiosciences Custom PCR Arrays for CBS 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CBS gene from 5/20 species (see all 20)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CBS1   -- cystathionine-beta-synthase 86.16(n)
    86.91(a)
    611071  XM_848703.1  XP_853796.1 
    chimpanzee
    (Pan troglodytes)
    CBS1   -- cystathionine-beta-synthase 99.27(n)
    99.27(a)
    736626  XM_001142443.1  XP_001142443.1 
    cow
    (Bos taurus)
    CBS1   -- cystathionine-beta-synthase 87.54(n)
    87.11(a)
    514525  XM_592392.3  XP_592392.2 
    rat
    (Rattus norvegicus)
    Cbs1   -- cystathionine beta synthase 82.69(n)
    84.28(a)
    24250  NM_012522.1  NP_036654.1 
    mouse
    (Mus musculus)
    Cbs1 , 5 17 (16.93 cM)5
    cystathionine beta-synthase1, 5 82.72(n)1
    84.8(a)1
    124111  NM_178224.21  NP_835742.11 
     AC0840655  AI0475245  (see all 22)
    About this table        Species with no ortholog for CBS

    ENSEMBL Gene Tree for CBS (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/372 NCBI SNPs in CBS are shown (see all 372)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 21 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs126131,2
    C,F,A,44473691(-) ACTGCG/ACAGAG 3 -- ut31 ese317Minor allele frequency- A:0.08MN NS EA NA WA 1284
    rs2347011,2
    C,H,44476759(+) GGCCCG/AGGCAT 3 -- int110Minor allele frequency- A:0.04MN NA EA WA 358
    rs2347021,2
    C,H,44477543(+) AGCCTC/GCTCTC 3 -- int111Minor allele frequency- G:0.08MN NS NA EA WA 568
    rs2347031,2
    --44478000(+) GTGACC/TGGGCA 3 -- int11Minor allele frequency- T:0.50NA 2
    rs2347041,2
    C,44480283(+) AGGAGG/AGACAG 3 -- int15Minor allele frequency- A:0.27MN NA EA 348
    rs2347051,2
    C,F,A,H,44483772(+) CTCAGC/TGCAGG 3 -- int128Minor allele frequency- T:0.26MN NS EA NA WA 2940
    rs2347061,2
    C,F,A,H,44485350(+) GTGTCA/GTAGTG 6 Y ref1 syn1 ese335Minor allele frequency- N:0.00EA NA MN NS WA 3304
    rs2347071,2
    C,F,A,H,44486271(+) GCTCAT/GCCATC 3 -- int13Minor allele frequency- G:0.33NA 6
    rs2347081,2
    C,A,H,44486324(+) AGCCCT/CGGCCA 3 -- int13Minor allele frequency- C:0.36NA WA 76
    rs2347091,2
    C,F,A,H,44486964(+) CTCCTC/TCCCCT 3 -- int1 trp39Minor allele frequency- T:0.34NS NA EA WA 290
    About this table

    HapMap Linkage Disequilibrium images for CBS (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CBS: --

    QIAGEN SeqTarget long-range PCR primers for resequencing CBS 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CBS for disorders           About GeneDecksing

    OMIM: 613381   disorders: 236200  

    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

  • Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD) [MIM:236200]. CBSD is an
  • enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated
    homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling
    Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include
    increased urinary homocystine and methionine

    10/64 Novoseek disease relationships for CBS gene (see all 64)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    homocystinuria 97.4 249 8744616 (4), 11338767 (3), 14744647 (3), 12007221 (3) (see all 99)
    hyperhomocysteinemia 91.9 86 2011158 (4), 15386278 (3), 18987302 (2), 16375773 (2) (see all 51)
    hypermethioninemia 85.8 6 12765841 (1), 10674710 (1), 15972722 (1)
    ectopia lentis 81.5 2 11596648 (1), 10564686 (1)
    homocysteinemia 81.4 7 9587026 (1), 2407253 (1), 1445498 (1), 8364009 (1) (see all 6)
    vascular diseases 73.7 35 2011158 (3), 11216902 (2), 9712328 (2), 9848890 (2) (see all 23)
    folate deficiency 71 8 2007933 (1), 11569694 (1), 16575899 (1), 8364009 (1) (see all 6)
    neural tube defects 67.1 5 9712534 (1), 10517251 (1), 12725044 (1), 9084933 (1)
    down syndrome 60.4 28 11391481 (2), 16541333 (2), 16115349 (1), 11415440 (1) (see all 13)
    mental retardation 55.8 11 11596648 (1), 14744647 (1), 16160063 (1), 16274669 (1) (see all 8)
    About this table

    2 PharmGKB disease relationships for CBS gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    HomocystinuriaPD  FA  GN  12124992
    HyperhomocysteinemiaGN  10704624 10704624
    About this table

    Genatlas disease: CBS
    homocystinuria,pyridoxine responsive or not responsive forms,neural tube defect,no evidence of association with NTD in
    Netherlands and U.K.,interacting with huntingtin

    GeneTests: CBS
    Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

    Locus Specific Mutation Databases (LSDB): CBS
    Human Gene Mutation Database (HGMD): CBS
    Genetic Association Database (GAD): CBS
    Human Genome Epidemiology (HuGE) Navigator: CBS (162 documents)

    Export disorders and mutations for CBS gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/605 PubMed articles for CBS gene, integrated from 7 sources (see all 605):
    (articles sorted by number of sources associating them with CBS)
    1. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PubMed id 9790750)1, 2, 3, 7 Kraus J.P.... Kozich V. (1998)
    2. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. (PubMed id 7611293)1, 2, 4, 7 Shih V.E.... Ramesh V. (1995)
    3. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. (PubMed id 12124992)1, 2, 5 Gaustadnes M.... Wilcken D.E. (2002)
    4. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. (PubMed id 12007221)1, 2, 7 Maclean K.N.... Kraus J.P. (2002)
    5. Human cystathionine beta-synthase is a target for sumoylation. (PubMed id 17087506)1, 2, 7 Kabil O.... Banerjee R. (2006)
    6. A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. (PubMed id 11528503)1, 4, 7 Lievers K.J....Blom H.J. (2001)
    7. Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. (PubMed id 12529702)1, 4, 7 Lievers K.J....Blom H.J. (2003)
    8. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. (PubMed id 8528202)1, 2, 7 Kruger W.D. and Cox D.R. (1995)
    9. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta- synthase using an improved bacterial expression system. (PubMed id 7981678)1, 2, 7 de Franchis R.... Kraus J.P. (1994)
    10. A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes. (PubMed id 8022826)1, 2, 7 Kruger W.D. and Cox D.R. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 875 HGNC: 1550 AceView: CBS Ensembl:ENSG00000160200 euGenes: HUgn875
    ECgene: CBS Kegg: 875 H-InvDB: CBS

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for CBS Genetics and Cytogenetics in Oncology and Haematology
    CBS mutation databasehttp://cbs.lf1.cuni.cz/index.php
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CBS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for CBS gene:
    Search GeneIP for patents involving CBS

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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