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CBS Gene

protein-coding   GIFtS: 77
GCID: GC21M044473

Cystathionine-Beta-Synthase

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
cystathionine-beta-synthase1 2     beta-thionase2
Serine Sulfhydrase2 3     Cystathionine Beta-Synthase2
EC 4.2.1.223 8     Methylcysteine Synthase2
Human Cystathionine-Beta-Synthase, EC 4.2.1.2211     Beta-thionase3
HIP42     

External Ids:    HGNC: 15501   Entrez Gene: 8752   Ensembl: ENSG000001602007   OMIM: 6133815   UniProtKB: P355203   

Export aliases for CBS gene to outside databases

Previous GC identifers: GC21M041021 GC21M043367 GC21M043346 GC21M029891


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CBS Gene:
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, May 2010)

GeneCards Summary for CBS Gene:
CBS (cystathionine-beta-synthase) is a protein-coding gene. Diseases associated with CBS include homocystinuria due to cbs deficiency, and myelomeningocele. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is LOC102724560.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CBS gene promoter:
         GR   Sp1   Ik-3   Arnt   FOXJ2 (long isoform)   GR-alpha   ZIC2/Zic2   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CBS promoter sequence

   Search Chromatin IP Primers for CBS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M044473:   GeneLoc Nature:405,311-319
Start:
44,473,301 bp from pter       30,020,629 bp from centromere
End:
44,497,053 bp from pter 30,035,840 bp from centromere
Size:
23,753 bases 15,212 bases
Orientation:
minus strand minus strand

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


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
6 PDB 3D structures from and Proteopedia for CBS:
1JBQ (3D)        1M54 (3D)        4L0D (3D)        4L27 (3D)        4L28 (3D)        4L3V (3D)    
Secondary accessions: B2R993 D3DSK4 Q99425 Q9BWC5
Alternative splicing: 2 isoforms:  P35520-1   P35520-2   

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

Explore proteomics data for CBS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys394
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CBS (P35520) (see all 11)
     SNPLAHYD  LSAPLTVLPT  KSPKILPDIL  EIPNSHILDQY 


    See CBS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000381225   ENSP00000381231   ENSP00000352643   ENSP00000344460   ENSP00000402823  
     ENSP00000408014   ENSP00000405929   ENSP00000388235   ENSP00000381234   ENSP00000439332  
    Reactome Protein details: P35520

    CBS Human Recombinant Protein Products:

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    OriGene MassSpec for CBS
    OriGene Custom Protein Services for CBS
    GenScript Custom Purified and Recombinant Proteins Services for CBS
    Novus Biologicals CBS Proteins
    Novus Biologicals CBS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    CBS Antibody Products:

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    ThermoFisher Antibody for CBS
    LSBio Antibodies in human, mouse, rat for CBS

    CBS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CBS
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Cystathionine beta-synthase
    Hydrogen sulphide synthesis

    4 InterPro protein domains:
     IPR005857 Cysta_beta_synth
     IPR000644 CBS_dom
     IPR001216 Cys_synth_BS
     IPR001926 Trp_syn_b_sub_like_PLP_eny_SF

    Graphical View of Domain Structure for InterPro Entry P35520

    ProtoNet protein and cluster: P35520

    2 Blocks protein domains:
    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


    CBS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         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

         Enzyme Number (IUBMB): EC 4.2.1.221 2

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004122cystathionine beta-synthase activity TAS--
    GO:0005515protein binding IPI17087506
    GO:0019899enzyme binding IPI17087506
    GO:0020037heme binding IMP18776696
    GO:0030170pyridoxal phosphate binding IDA18776696
         
    CBS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CBS:
     Decreased Salmonella enterica   Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Cbs) (see all 19):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    CBS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cbstm1Unc for CBS

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CBS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CBS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CBS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CBS

    miRNA
    Products:
        
    miRTarBase miRNAs that target CBS:
    hsa-mir-149-5p (MIRT045521), hsa-mir-652-3p (MIRT039571), hsa-mir-324-5p (MIRT043169), hsa-mir-193b-3p (MIRT041577), hsa-mir-615-3p (MIRT040018), hsa-mir-106b-3p (MIRT038567), hsa-mir-92a-3p (MIRT049293)

    Block miRNA regulation of human, mouse, rat CBS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CBS:
    hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidCBS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CBS
    Predesigned siRNA for gene silencing in human, mouse, rat CBS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CBS

    Clone
    Products:
         
    OriGene clones in human, mouse for CBS (see all 17)
    OriGene ORF clones in mouse, rat for CBS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CBS (NM_000071)
    Sino Biological Human cDNA Clone for CBS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CBS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CBS
    Browse ESI BIO Cell Lines and PureStem Progenitors for CBS 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CBS_HUMAN, P35520: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    plasma membrane3
    extracellular2
    mitochondrion2
    chloroplast1
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17087506
    GO:0005730nucleolus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0043231intracellular membrane-bounded organelle ----

    CBS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CBS About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    Trans-sulfuration and one carbon metabolism0.43
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34
    Methionine metabolism0.35
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.00
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.35
    2Trans-sulfuration pathway
    cysteine biosynthesis/homocysteine degradation0.00
    Cysteine formation from homocysteine0.00
    Trans-sulfuration pathway
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Cysteine and methionine metabolism0.35
    5superpathway of methionine degradation
    superpathway of methionine degradation
    cysteine biosynthesis III (mammalia)0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CBS
        Methionine metabolism

    Selected BioSystems Pathways for CBS (see all 7)
        Trans-sulfuration pathway
    Selenium Pathway
    cysteine biosynthesis/homocysteine degradation
    Folate-Alcohol and Cancer Pathway
    Trans-sulfuration and one carbon metabolism


    1 Reactome Pathway for CBS
        Cysteine formation from homocysteine

    3 PharmGKB Pathways for CBS
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    4 Kegg Pathways  (Kegg details for CBS):
        Glycine, serine and threonine metabolism
    Cysteine and methionine metabolism
    Metabolic pathways
    Biosynthesis of amino acids

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


    CBS for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CBS: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CBS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CBS (P355201, 2, 3 ENSP000003444604) via UniProtKB, MINT, STRING, and/or I2D (see all 349)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0001958endochondral ossification IEA--
    GO:0001974blood vessel remodeling IEA--
    GO:0006535cysteine biosynthetic process from serine IEA--
    GO:0006563L-serine metabolic process IDA19010420

    CBS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CBS

    Selected HMDB Compounds for CBS (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    AllocystathionineDL-Allocystathionine (see all 4)535-34-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Homocysteine(+-)-homocysteine (see all 22)454-29-5--
    Hydrogen sulfideDihydrogen disulfide (see all 24)7783-06-4--
    L-CystathionineL-(+)-Cystathionine (see all 6)56-88-2--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    L-Serine(-)-Serine (see all 26)56-45-1--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyridoxine2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine (see all 16)65-23-6--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    5 DrugBank Compounds for CBS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cysteine(R)-2-Amino-3-mercaptopropanoic acid (see all 13)52-90-4target--16428267 17377202 17488480 15671155 16781459
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor15196993 15365998 12644499 11948191 12173932
    S-AdenosylmethionineAcylcarnitine (see all 6)29908-03-0targetactivator12163655 12269827 11559709 11524006
    Heme-- --target--17139284 17016423
    L-Serine(-)-Serine (see all 11)56-45-1target--17352495 17629356

    1 IUPHAR Ligand for CBS (Cystathionine beta-synthase)    About this table
    LigandTypeActionAffinityPubmed IDs
    aminooxyacetic acid
    InhibitorInhibition--

    Selected Novoseek inferred chemical compound relationships for CBS gene (see all 63)    About this table
    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)



    CBS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CBS gene (3 alternative transcripts): 
    NM_000071.2  NM_001178008.1  NM_001178009.1  

    Unigene Cluster for CBS:

    Cystathionine-beta-synthase
    Hs.533013  [show with all ESTs]
    Unigene Representative Sequence: L00972
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000461686(uc002zcs.1) ENST00000398158 ENST00000398165(uc002zcu.2 uc002zct.2)
    ENST00000359624(uc002zcw.3) ENST00000352178(uc002zcv.2) ENST00000451248
    ENST00000462349 ENST00000491776 ENST00000458223 ENST00000430013 ENST00000496485
    ENST00000486098 ENST00000441030 ENST00000470912 ENST00000465732 ENST00000488526
    ENST00000478709 ENST00000398168
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CBS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CBS:
    hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidCBS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CBS
    Predesigned siRNA for gene silencing in human, mouse, rat CBS
    Clone
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    OriGene clones in human, mouse for CBS (see all 17)
    OriGene ORF clones in mouse, rat for CBS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CBS (NM_000071)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CBS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CBS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CBS
      QuantiTect SYBR Green Assays in human, mouse, rat CBS
      QuantiFast Probe-based Assays in human, mouse, rat CBS

    Additional mRNA sequence: 

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

    21 DOTS entries:

    DT.452726  DT.100810615  DT.97859672  DT.100810602  DT.121131733  DT.100810619  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 

    Selected AceView cDNA sequences (see all 312):

    BX101034 BE898248 BF507816 CR624541 BM471614 CB162041 AW247430 BQ720498 
    CD672229 AI668772 D16995 BX117844 BQ691100 BM478198 BE269373 AI494295 
    AA643208 BU508699 AI494305 BQ225465 BE252944 AW071777 BU552809 CA446196 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CBS (see all 18)    About this scheme

    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:  -                 -                       -     -                                   -                                       


    ECgene alternative splicing isoforms for CBS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CBS expression in normal human tissues (normalized intensities)      CBS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCCTAAA
    CBS Expression
    About this image


    CBS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     NULL (Uncategorized)
             Mesenchymal Progenitor Cells - Passage 2
     
     Pancreas (Endocrine System)
    CBS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533013

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CBS: 
              Amino Acid Metabolism I in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CBS gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbs1 , 5 cystathionine beta-synthase1, 5 82.66(n)1
    84.8(a)1
      17 (16.93 cM)5
    124111  NM_001271353.11  NP_001258282.11 
     316126235 
    chicken
    (Gallus gallus)
    Aves CBS1 cystathionine-beta-synthase 74.18(n)
    79.48(a)
      418545  XM_416752.3  XP_416752.3 
    lizard
    (Anolis carolinensis)
    Reptilia CBS6
    cystathionine-beta-synthase
    74(a)
    1 ↔ 1
    3(137211335-137260627)
    African clawed frog
    (Xenopus laevis)
    Amphibia cbs-prov2 cystathionine-beta-synthase 75.8(n)    BC044091.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufq06c062 wufq06c06 76.9(n)   335753  BI704255.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17533
    Cbs1
    cystathione beta-synthase3
    Cystathionine beta-synthase1
    51(a)3
    59.65(n)1
    52.76(a)1
      19E73
    330811  NM_167726.11  NP_728384.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F54A3.43   -- 55(a)
    (best of 4)
      II(2220000-2223540)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYS4(YGR155W)4
    CYS41
    Cystathionine beta-synthase, catalyzes synthesis of more4
    CYS41
    51.01(n)1
    49.39(a)1
      7(798543-800066)4
    8530591, 4  NP_011671.31  NP_011671.14 
    rice
    (Oryza sativa)
    Liliopsida Os06g05645001 Os06g0564500 47.4(n)
    43.18(a)
      4341321  NM_001064419.1  NP_001057884.1 


    ENSEMBL Gene Tree for CBS (if available)
    TreeFam Gene Tree for CBS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBS gene
    LOC102724560  
    1 SIMAP similar gene for CBS using alignment to 8 protein entries:     CBS_HUMAN (see all proteins):
    DKFZp727E011

    CBS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CBS (see all 895)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219649681,2,,4
    CCystathionine beta-synthase deficiency (CBSD)4 pathogenic134973528(-) TGACTC/TGCTGA 6 S L mis10--------
    rs289348911,2,,4
    CCystathionine beta-synthase deficiency (CBSD)4 pathogenic134978470(-) GCTTCG/AACCAG 6 /N /D mis1 ese31Minor allele frequency- A:0.00NA 2836
    rs289348921,2,,4
    CCystathionine beta-synthase deficiency (CBSD)4 pathogenic134978535(-) AGCCCC/TGCTGA 6 P L mis10--------
    rs117008121,2,,4
    C,F,HCystathionine beta-synthase deficiency (CBSD)4 --34980088(+) CGCAGC/G/TGCTGG 9 H P R mis1 ese316NS EA NA MN 2014
    rs1176876811,2,,4
    C,FCystathionine beta-synthase deficiency (CBSD)4 --34980089(+) GCAGCG/ACTGGC 6 /R /C mis12Minor allele frequency- A:0.00NA EU 5707
    rs57429051,2,,4
    C,F,HCystathionine beta-synthase deficiency (CBSD)4 pathogenic134982682(-) GATCAC/TTGGGG 6 T I mis1 ese39Minor allele frequency- A:0.00NS EA NA EU 7411
    rs340401481,2,,4
    C,FCystathionine beta-synthase deficiency (CBSD)4 --34988129(-) GCCTGA/CAGTGT 6 K Q mis15Minor allele frequency- C:0.02NA WA 4746
    VAR_0217924
    Cystathionine beta-synthase deficiency (CBSD)4--see VAR_0217922 C R mis40--------
    VAR_0021904
    Cystathionine beta-synthase deficiency (CBSD)4--see VAR_0021902 V M mis40--------
    VAR_0080834
    Cystathionine beta-synthase deficiency (CBSD)4--see VAR_0080832 V M mis40--------

    HapMap Linkage Disequilibrium report for CBS (44473301 - 44497053 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CBS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666871CNV Deletion23128226
    nsv913822CNV Loss21882294
    nsv510800CNV Loss20534489
    nsv913824CNV Loss21882294
    nsv526609CNV Loss19592680
    dgv4754n71CNV Loss21882294
    nsv913828CNV Loss21882294
    nsv521438CNV Loss19592680
    nsv913812CNV Gain21882294
    nsv459278CNV Gain19166990

    Human Gene Mutation Database (HGMD): CBS
    Locus Specific Mutation Databases (LSDB): CBS

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CBS
    DNA2.0 Custom Variant and Variant Library Synthesis for CBS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613381   
    OMIM disorders: 236200  
    UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
  • Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CBS (see all 128):    About MalaCards
    homocystinuria due to cbs deficiency    myelomeningocele    homocystinuria caused by cystathionine beta-synthase deficiency    thrombosis, hyperhomocysteinemic
    homocystinuria, b6-responsive and nonresponsive types    tinea manuum    methionine adenosyltransferase deficiency    mthfr deficiency
    trichosporonosis    hyperhomocysteinemia    homocysteinemia    homocystinuria
    tinea corporis    glycine n-methyltransferase deficiency    hypermethioninemia    pityriasis versicolor
    lens subluxation    apraxia    cerebrovascular disease    retinal detachment

    12 diseases from the University of Copenhagen DISEASES database for CBS:
    Homocystinuria     Hyperhomocysteinemia     Apraxia     Aphasia
    Down syndrome     Vascular disease     Brain disease     Hypermethioninemia
    Tinea manuum     Ideomotor apraxia     Neurodegenerative disease     Intellectual disability

    CBS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CBS gene (see all 64)    About this table

    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)

    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
    GeneReviews: CBS
    Genetic Association Database (GAD): CBS
    Human Genome Epidemiology (HuGE) Navigator: CBS (180 documents)

    Export disorders for CBS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CBS gene, integrated from 10 sources (see all 673):
    (articles sorted by number of sources associating them with CBS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: vitamin B6 nonresponsiveness and a common ancestral haplotype. (PubMed id 15365998)1, 2, 4, 7, 9 Linnebank M.... Koch H.G. (Hum. Mutat. 2004)
    2. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PubMed id 9790750)1, 2, 3, 9 Kraus J.P.... Kozich V. (Genomics 1998)
    3. Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme. (PubMed id 12173932)1, 2, 7, 9 Taoka S.... Banerjee R. (Biochemistry 2002)
    4. 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, 9 Shih V.E.... Ramesh V. (Am. J. Hum. Genet. 1995)
    5. 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, 9 Maclean K.N.... Kraus J.P. (Hum. Mutat. 2002)
    6. Human cystathionine beta-synthase is a target for sumoylation. (PubMed id 17087506)1, 2, 9 Kabil O.... Banerjee R. (Biochemistry 2006)
    7. 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, 9 Lievers K.J....Blom H.J. (Eur. J. Hum. Genet. 2001)
    8. Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. (PubMed id 12529702)1, 4, 9 Lievers K.J....Blom H.J. (Eur. J. Hum. Genet. 2003)
    9. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. (PubMed id 8528202)1, 2, 9 Kruger W.D. and Cox D.R. (Hum. Mol. Genet. 1995)
    10. 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, 9 de Franchis R.... Kraus J.P. (Hum. Mol. Genet. 1994)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 875 HGNC: 1550 AceView: CBS Ensembl:ENSG00000160200 euGenes: HUgn875
    ECgene: CBS Kegg: 875 H-InvDB: CBS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CBS Pharmacogenomics, SNPs, Pathways
    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/books/NBK1116/?term=CBS[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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