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CBWD6 Gene

protein-coding   GIFtS: 38
GCID: GC09M069204

COBW Domain Containing 6

  Search for CBWD6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
COBW Domain Containing 61 2
Cobalamin Synthase W Domain-Containing Protein 62 3
Cobalamin Synthetase W Domain-Containing Protein 62
COBW Domain-Containing Protein 62

External Ids:    HGNC: 319781   Entrez Gene: 6440192   Ensembl: ENSG000002047907   UniProtKB: Q4V3393   

Export aliases for CBWD6 gene to outside databases

Previous GC identifers: GC09P042659 GC09M068495


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CBWD6 Gene:
CBWD6 (COBW domain containing 6) is a protein-coding gene. An important paralog of this gene is CBWD2.


(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)
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RefSeq DNA sequence:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CBWD6 gene promoter:
         GR   Pax-6   ATF-2   GR-beta   HNF-4alpha2   POU3F2   Cdc5   GATA-1   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CBWD6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CBWD6


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

Entrez Gene cytogenetic band: 9q21.11   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q13

CBWD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBWD6 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M069204:  view genomic region     (about GC identifiers)

Start:
69,204,538 bp from pter      End:
69,269,662 bp from pter
Size:
65,125 bases      Orientation:
minus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CBWD6_HUMAN, Q4V339 (See protein sequence)
Recommended Name: COBW domain-containing protein 6  
Size: 395 amino acids; 43964 Da

Explore the universe of human proteins at neXtProt for CBWD6: NX_Q4V339

Explore proteomics data for CBWD6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55, Lys69, Lys113, Lys176, Lys306, Lys370
  • Modification sites at PhosphoSitePlus

  • See CBWD6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001078926.1  
    ENSEMBL proteins: 
     ENSP00000408279   ENSP00000366677   ENSP00000366668   ENSP00000366660   ENSP00000366658  
     ENSP00000371836  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011629 Cbl_biosynth_CobW-like_C
     IPR027417 P-loop_NTPase
     IPR003495 CobW/HypB/UreG_dom

    Graphical View of Domain Structure for InterPro Entry Q4V339

    ProtoNet protein and cluster: Q4V339

    2 Blocks protein domains:
    IPB003495 Cobalamin synthesis protein/P47K
    IPB011629 Cobalamin synthesis CobW


    UniProtKB/Swiss-Prot: CBWD6_HUMAN, Q4V339
    Similarity: Belongs to the CobW family
    Similarity: Contains 1 cobW C-terminal domain


    CBWD6 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    CBWD6 for ontologies           About GeneDecksing


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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    peroxisome1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CBWD6
    Interactions:

        Search GeneGlobe Interaction Network for CBWD6

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CBWD6 (ENSP000003666774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2E1ENSP000002838754STRING: ENSP00000283875
    TTC39AENSP000004061444STRING: ENSP00000406144
    TTC39BENSP000003479204STRING: ENSP00000347920
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 CBWD6



    (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,
    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 CBWD6 gene: 
    NM_001085457.1  

    Unigene Cluster for CBWD6:

    COBW domain containing 6
    Hs.597638  [show with all ESTs]
    Unigene Representative Sequence: BM470872
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000416428 ENST00000377457(uc004afj.4 uc011lrf.2) ENST00000377449
    ENST00000477430 ENST00000466320(uc004afk.4) ENST00000468061 ENST00000468763
    ENST00000498101 ENST00000495626 ENST00000461037 ENST00000485382 ENST00000494632
    ENST00000461834 ENST00000377445 ENST00000476973 ENST00000377441(uc004afl.3)
    ENST00000470192 ENST00000480351
    miRNA
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    hsa-miR-33a* hsa-miR-3611 hsa-miR-3662 hsa-miR-758
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CBWD6

    Additional mRNA sequence: AF293368.1 

    24 DOTS entries:

    DT.121166890  DT.92460248  DT.121202301  DT.100890111  DT.121202364  DT.121202400  DT.121166875  DT.121166893 
    DT.92460230  DT.95095701  DT.95140938  DT.100038781  DT.100890115  DT.102843376  DT.121166896  DT.92460241 
    DT.92460279  DT.99947945  DT.100890095  DT.121166882  DT.121202224  DT.121202276  DT.318244  DT.95115608 

    GeneLoc Exon Structure


    (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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    CBWD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTCTGTGA
    CBWD6 Expression
    About this image

    CBWD6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBWD6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.597638
        Custom PCR Arrays for CBWD6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBWD6

    (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 animals and fungi.

    Orthologs for CBWD6 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CBWD16
    COBW domain-containing protein 1
    72(a)
    1 → many
    Z(25552426-25574010)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    72(a)
    1 → many
    2(49999445-50023007)
    zebrafish
    (Danio rerio)
    Actinopterygii cbwd6
    COBW domain containing
    71(a)
    1 → many
    8(31273742-31298114) ENSDARG00000004318
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative protein of unknown function, deletion con...
    32(a)
    1 → many
    XIV(677199-678488) YNR029C
            Species with no ortholog for CBWD6

    ENSEMBL Gene Tree for CBWD6 (if available)
    TreeFam Gene Tree for CBWD6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBWD6 gene
    CBWD31 2  CBWD22  CBWD12  CBWD72  CBWD52  
    5 SIMAP similar genes for CBWD6 using alignment to 6 protein entries:     CBWD6_HUMAN (see all proteins):
    CBWD5    CBWD3    CBWD2    CBWD7    CBWD1

    CBWD6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CBWD6
    PGOHUM00000236194


    (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 CBWD6 (see all 350)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2021018411,2
    C--69204974(+) ACAAAC/GTTGAT 2 L V mis10--------
    rs3729917331,2
    C--69205861(+) TTTCAA/GGTTAT 1 -- int10--------
    rs802824431,2
    C--69206924(+) AGATGA/TTCTTC 2 E D mis10--------
    rs2003817711,2
    C--69207122(+) GTGCT-/GTTTTT 1 -- int10--------
    rs1468606331,2
    --69207327(+) GGCCAC/GGTACT 1 -- int10--------
    rs1401845731,2
    C--69207331(+) AGGTAA/CTTTTG 1 -- int10--------
    rs2004864921,2
    C--69207434(+) AGGGTA/CAAAAA 1 -- int10--------
    rs2015890481,2
    C--69207917(+) TCTTTC/GCATAA 1 -- int10--------
    rs1503320971,2
    --69208192(+) TGCACC/TCAATT 1 -- int10--------
    rs1153120201,2
    C,F--69209713(+) GTCCTC/TTCCTG 1 -- int12Minor allele frequency- T:0.29WA EA 238

    HapMap Linkage Disequilibrium report for CBWD6 (69204538 - 69269662 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CBWD6:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv135n16CNV Deletion17901297
    esv33449CNV Loss17666407
    essv17250CNV CNV17122850
    dgv2381e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 CBWD6 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CBWD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    4. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 644019 HGNC: 31978 Ensembl:ENSG00000204790 euGenes: HUgn644019 ECgene: CBWD6
    H-InvDB: CBWD6

    (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 CBWD6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CBWD6 gene:
    Search GeneIP for patents involving CBWD6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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