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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CMBL Gene

protein-coding   GIFtS: 55
GCID: GC05M010275

Carboxymethylenebutenolidase Homolog (Pseudomonas)

(Previous name: carboxymethylenebutenolidase-like (Pseudomonas))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Carboxymethylenebutenolidase Homolog (Pseudomonas)1 2
Carboxymethylenebutenolidase-Like (Pseudomonas)1 2
JS-12
Carboxymethylenebutenolidase Homolog2
EC 3.1.-.-3

External Ids:    HGNC: 250901   Entrez Gene: 1341472   Ensembl: ENSG000001642377   OMIM: 6133795   UniProtKB: Q96DG63   

Export aliases for CMBL gene to outside databases

Previous GC identifer: GC05M010330


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

Entrez Gene summary for CMBL Gene:
CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver
cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the
medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 (PubMed 20177059)).(supplied by OMIM, Apr
2010)

GeneCards Summary for CMBL Gene: 
CMBL (carboxymethylenebutenolidase homolog (Pseudomonas)) is a protein-coding gene. Diseases associated with CMBL include esophageal squamous cell carcinoma, and esophagitis, and among its related super-pathways are Metabolism. GO annotations related to this gene include hydrolase activity.

UniProtKB/Swiss-Prot: CMBL_HUMAN, Q96DG6
Function: Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active
metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam
antibiotics faropenem medoxomil and lenampicillin




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CMBL gene promoter:
         TBP   HNF-4alpha2   STAT5A   Nkx2-5   Tal-1beta   HNF-4alpha1   Evi-1   POU2F1   POU2F1a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCMBL promoter sequence
   Search SABiosciences Chromatin IP Primers for CMBL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CMBL


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

Entrez Gene cytogenetic band: 5p15.2   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15.2

CMBL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMBL gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M010275:  view genomic region     (about GC identifiers)

Start:
10,275,987 bp from pter      End:
10,308,168 bp from pter
Size:
32,182 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CMBL_HUMAN, Q96DG6 (See protein sequence)
Recommended Name: Carboxymethylenebutenolidase homolog  
Size: 245 amino acids; 28048 Da
Subcellular location: Cytoplasm, cytosol
Secondary accessions: D3DTC7 Q8TED6

Explore the universe of human proteins at neXtProt for CMBL: NX_Q96DG6

Explore proteomics data for CMBL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96DG6

  • CMBL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CMBL Protein Expression
    REFSEQ proteins: NP_620164.1  
    ENSEMBL proteins: 
     ENSP00000296658  

    Human Recombinant Protein Products for CMBL: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CMBL
    OriGene Protein Over-expression Lysate for CMBL
    OriGene MassSpec for CMBL 
    OriGene Custom Protein Services for CMBL
    GenScript Custom Purified and Recombinant Proteins Services for CMBL
    Novus Biologicals CMBL Proteins
    Novus Biologicals CMBL Lysates
    Sino Biological Recombinant Protein for CMBL
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CMBL
    Cloud-Clone Corp. Proteins for CMBL 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--

    CMBL for ontologies           About GeneDecksing



    CMBL Antibody Products: 
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    Abcam antibodies for CMBL
    Cloud-Clone Corp. Antibodies for CMBL 
    ThermoFisher Antibody for CMBL
    LSBio Antibodies in human, mouse, rat for CMBL 

    Assay Products for CMBL: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CMBL 
    Cloud-Clone Corp. CLIAs for CMBL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR002925 Dienelactn_hydro

    Graphical View of Domain Structure for InterPro Entry Q96DG6

    ProtoNet protein and cluster: Q96DG6

    1 Blocks protein domain: IPB002925 Dienelactone hydrolase

    UniProtKB/Swiss-Prot: CMBL_HUMAN, Q96DG6
    Similarity: Belongs to the dienelactone hydrolase family


    CMBL 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CMBL_HUMAN, Q96DG6
    Function: Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active
    metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam
    antibiotics faropenem medoxomil and lenampicillin
    Enzyme regulation: Strongly inhibited by p-chloromercuribenzoate (PCMB). Partially inhibited by
    bis-p-nitrophenylphosphate (BNPP). Not inhibited by DFP, PMSF, eserine or EDTA
    Biophysicochemical properties: Kinetic parameters: KM=170 uM for olmesartan medoxomil; KM=283 uM for faropenem
    medoxomil; KM=63.4 uM for lenampicillin; Vmax=24.6 nmol/min/mg enzyme toward olmesartan medoxomil; Vmax=16.4
    nmol/min/mg enzyme toward faropenem medoxomil; Vmax=4 nmol/min/mg enzyme toward lenampicillin;

         Enzyme Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--
         
    CMBL for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CMBL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CMBL

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CMBL
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CMBL:
    hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidCMBL 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CMBL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CMBL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CMBL
    Sirion Biotech Customized adenovirus for overexpression of CMBL

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CMBL (see all 7)
    OriGene ORF clones in mouse, rat for CMBL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CMBL (NM_138809)
    Sino Biological Human cDNA Clone for CMBL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CMBL
    Sirion Biotech Customized lentivirus for stable overexpression of CMBL 
                         Customized lentivirus expression plasmids for stable overexpression of CMBL 

    Cell Line
    Products:
         
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    Search LifeMap BioReagents cell lines for CMBL
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMBL


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CMBL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for CMBL):
        Metabolic pathways


    CMBL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CMBL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for CMBL (Q96DG63 ENSP000002966584) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494073, ENSP000003771414I2D: score=2 STRING: ENSP00000377141
    CUL2Q136173, ENSP000003638804I2D: score=2 STRING: ENSP00000363880
    EIF4A2Q142403, ENSP000003263814I2D: score=2 STRING: ENSP00000326381
    H2AFXP161043, ENSP000003643104I2D: score=2 STRING: ENSP00000364310
    PUF60Q9UHX13, ENSP000003220164I2D: score=1 STRING: ENSP00000322016
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CMBL

    1 HMDB Compound for CMBL    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about CMBL

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CMBL gene: 
    NM_138809.3  

    Unigene Cluster for CMBL:

    Carboxymethylenebutenolidase homolog (Pseudomonas)
    Hs.192586  [show with all ESTs]
    Unigene Representative Sequence: NM_138809
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503834 ENST00000296658(uc003jes.3) ENST00000510532 ENST00000511963
    ENST00000506821 ENST00000514202 ENST00000506224
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CMBL
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CMBL:
    hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidCMBL 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CMBL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CMBL
    Clone
    Products:
         
    OriGene clones in human, mouse for CMBL (see all 7)
    OriGene ORF clones in mouse, rat for CMBL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CMBL (NM_138809)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CMBL
    Sirion Biotech Customized lentivirus for stable overexpression of CMBL 
                         Customized lentivirus expression plasmids for stable overexpression of CMBL 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CMBL
    OriGene qSTAR qPCR primer pairs in human, mouse for CMBL
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CMBL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CMBL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CMBL

    Additional mRNA sequence: 

    AJ278125.1 AK074197.1 AK315390.1 BC001573.1 BX647141.1 

    8 DOTS entries:

    DT.40307419  DT.100038135  DT.100782742  DT.100038133  DT.100782744  DT.120796283  DT.100782745  DT.92351242 

    24/143 AceView cDNA sequences (see all 143):

    BM784608 CB128136 AW188545 BC001573 AA317168 BU165988 AL036039 CF144508 
    BE546579 CK431244 CF144457 AW300032 AA563626 BX358560 AW271852 CA435363 
    BE280583 CA412397 BG428780 AI765501 BM830112 AI609325 BQ051362 BU533190 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CMBL    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:              -           -                 -                     
    SP2:                          -                 -     -               
    SP3:              -           -                                       
    SP4:              -                                                   


    ECgene alternative splicing isoforms for CMBL

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CMBL expression in normal human tissues (normalized intensities)      CMBL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTATAAAC
    CMBL Expression
    About this image


    CMBL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Cartilage (Muscoskeletal System)
             Human Nucleus Pulposus Cells (HNPC)   

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See CMBL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CMBL

    SOURCE GeneReport for Unigene cluster: Hs.192586

    UniProtKB/Swiss-Prot: CMBL_HUMAN, Q96DG6
    Tissue specificity: Widely expressed, with highest levels in liver, followed by kidney, small intestine and colon.
    Present in liver and intestine (at protein level)

        SABiosciences Custom PCR Arrays for CMBL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMBL

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CMBL gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cmbl1 , 5 carboxymethylenebutenolidase-like (Pseudomonas)1, 5 81.9(n)1
    82.86(a)1
      15 (13.00 cM)5
    695741  NM_181588.31  NP_853619.11 
     315687915 
    chicken
    (Gallus gallus)
    Aves CMBL1 carboxymethylenebutenolidase homolog (Pseudomonas) 68.71(n)
    61.63(a)
      420928  XM_001231973.2  XP_001231974.1 
    lizard
    (Anolis carolinensis)
    Reptilia CMBL6
    Uncharacterized protein
    62(a)
    1 ↔ 1
    4(66740839-66780256)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.262922 Xenopus laevis transcribed sequence with weak similarity more 72.48(n)    CD325620.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cmbl1 carboxymethylenebutenolidase-like (Pseudomonas) 65.16(n)
    64.34(a)
      100151256  NM_001109832.1  NP_001103302.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM2(YAL049C)4
    AIM21
    Cytoplasmic protein involved in mitochondrial function more4
    Aim2p1
    46.08(n)1
    29.03(a)1
      1(52595-51855)4
    8512481, 4  NP_009350.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G235701 dienelactone hydrolase family protein 42.84(n)
    29.86(a)
      821936  NM_113260.3  NP_566731.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g03991001 hypothetical protein 46.67(n)
    34.55(a)
      4338716  NM_001062009.1  NP_001055474.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CMBL gene

    CMBL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CMBL
    PGOHUM00000241086


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/802 SNPs in CMBL are shown (see all 802)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1996038511,2
    C--10277211(+) TTTTG-/TTTTTT 1 -- ds50010--------
    rs1125707841,2
    C,F--10277296(+) ACCTCC/TGGGTT 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs787764631,2
    C,F--10277583(+) AAAGAT/CAGAGG 1 -- ds50011Minor allele frequency- C:0.08WA 118
    rs113060501,2
    C--10277592(+) GGAAC-/AAAAAA 1 -- ds50010--------
    rs1901038871,2
    --10277629(+) GATTCA/GTTACA 1 -- ds50010--------
    rs737413621,2
    C,F--10277799(+) CCTTCG/ATTTAT 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs12994241,2
    C,H--10277810(-) TAGACA/CAACAG 1 -- ut316Minor allele frequency- C:0.00MN NS EA NA 604
    rs1459047251,2
    C--10277874(+) TACTTC/TTATCT 1 -- ut310--------
    rs1381901151,2
    --10277911(+) ATTTGA/CCCAAA 1 -- ut310--------
    rs595269981,2
    C,F--10278055(+) CCGACA/GCCGTT 1 -- ut311Minor allele frequency- G:0.04WA 118

    HapMap Linkage Disequilibrium report for CMBL (10275987 - 10308168 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CMBL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv32585CNV Loss17666407
    nsv823000CNV Gain20364138
    nsv881429CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CMBL
    DNA2.0 Custom Variant and Variant Library Synthesis for CMBL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613379    OMIM disorders: --

    4 diseases for CMBL:    About MalaCards
    esophageal squamous cell carcinoma    esophagitis    squamous cell carcinoma    hepatocellular carcinoma


    CMBL for disorders           About GeneDecksing

    Genetic Association Database (GAD): CMBL

    Export disorders for CMBL 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)
    About This Section

    PubMed articles for CMBL gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with CMBL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human carboxymethylenebutenolidase as a bioactivating hydrolase of olmesartan medoxomil in liver and intestine. (PubMed id 20177059)1, 2, 3 Ishizuka T....Okazaki O. (2010)
    2. Nucleotide sequence and expression of clcD, a plasmid-borne dienelactone hydrolase gene from Pseudomonas sp. strain B13. (PubMed id 3804974)1, 3 Frantz B....Chakrabarty A.M. (1987)
    3. Deubiquitinase FAM/USP9X interacts with the E3 ubiquit in ligase SMURF1 protein and protects it from ligase activity-dependent self-deg radation. (PubMed id 23184937)1 Xie Y....Cong F. (2013)
    4. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    5. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    8. Proteomic dissection of cell type-specific H2AX-inter acting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)1 Yang X....Chen X. (2010)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 134147 HGNC: 25090 AceView: LOC134147 Ensembl:ENSG00000164237 euGenes: HUgn134147
    ECgene: CMBL Kegg: 134147 H-InvDB: CMBL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CMBL Pharmacogenomics, SNPs, Pathways

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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