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CBWD5 Gene

protein-coding   GIFtS: 44
GCID: GC09M070432

COBW Domain Containing 5

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(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 51 2     Cobalamin Synthetase W Domain-Containing Protein 52
Dopamine Responsive Protein1 2     COBW Domain-Containing Protein 52
Cobalamin Synthase W Domain-Containing Protein 52 3     COBW-Like Placental Protein2
DC362     

External Ids:    HGNC: 245841   Entrez Gene: 2208692   Ensembl: ENSG000001479967   UniProtKB: Q5RIA93   

Export aliases for CBWD5 gene to outside databases

Previous GC identifers: GC09P068088 GC09M069672


(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 CBWD5 Gene:
CBWD5 (COBW domain containing 5) 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 at NCBI GenBank:
NC_000009.11  NT_078055.5  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CBWD5 gene promoter:
         GR   Pax-6   ATF-2   GR-beta   POU3F2   Cdc5   GATA-1   GR-alpha   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CBWD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CBWD5


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

CBWD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBWD5 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M070432:  view genomic region     (about GC identifiers)

Start:
70,432,004 bp from pter      End:
70,497,240 bp from pter
Size:
65,237 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CBWD5_HUMAN, Q5RIA9 (See protein sequence)
Recommended Name: COBW domain-containing protein 5  
Size: 395 amino acids; 44068 Da
Secondary accessions: Q8N7U8
Alternative splicing: 3 isoforms:  Q5RIA9-1   Q5RIA9-2   Q5RIA9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CBWD5: NX_Q5RIA9

Explore proteomics data for CBWD5 at MOPED

Post-translational modifications: 

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

  • See CBWD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001020087.2  NP_001273764.1  NP_001273765.1  

    ENSEMBL proteins: 
     ENSP00000371842   ENSP00000418163   ENSP00000366612   ENSP00000397999   ENSP00000405076  
     ENSP00000366606   ENSP00000420326   ENSP00000417466   ENSP00000419839   ENSP00000420033  
     ENSP00000417957   ENSP00000420334   ENSP00000366601   ENSP00000366609  

    CBWD5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CBWD5
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    Cloud-Clone Corp. Proteins for CBWD5

     
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    Search antibodies-online for antibodies for CBWD5 

    CBWD5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CBWD5
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    Search eBioscience for ELISAs for CBWD5 
    antibodies-online kits for CBWD5 


    (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 Q5RIA9

    ProtoNet protein and cluster: Q5RIA9

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


    UniProtKB/Swiss-Prot: CBWD5_HUMAN, Q5RIA9
    Similarity: Belongs to the CobW family
    Similarity: Contains 1 cobW C-terminal domain


    Find genes that share domains with CBWD5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, 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--
         
    Find genes that share ontologies with CBWD5           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CBWD5

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CBWD5

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBWD5

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBWD5


    (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
    peroxisome2

    (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 CBWD5
    Interactions:

        Search GeneGlobe Interaction Network for CBWD5

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

    5 Interacting proteins for CBWD5 (Q5RIA93 ENSP000003666124) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2E1P519653, ENSP000003037094I2D: score=1 STRING: ENSP00000303709
    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 CBWD5



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CBWD5 gene (3 alternative transcripts): 
    NM_001024916.3  NM_001286835.1  NM_001286836.1  

    Unigene Clusters for CBWD5:

    COBW domain containing 5
    Hs.355950  [show with all ESTs], Hs.635227  [show with all ESTs], Hs.645504  [show with all ESTs]
    Unigene Representative Sequences: AK097639, BC043420, BI256822
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
    ENST00000382405(uc004aga.4 uc004agb.4 uc004agc.4 uc004afy.4 uc011lrm.2)
    ENST00000461932 ENST00000485088 ENST00000480229(uc011lrn.2) ENST00000377395
    ENST00000491485 ENST00000430059 ENST00000476797(uc004afz.4) ENST00000429800
    ENST00000377389 ENST00000463075 ENST00000486221(uc010moe.1) ENST00000480819
    ENST00000489273 ENST00000497250(uc004agd.1) ENST00000486191 ENST00000468066
    ENST00000476161
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CBWD5
    Clone
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    GenScript: all cDNA clones in your preferred vector: CBWD5 (NM_001024916)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CBWD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBWD5
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CBWD5
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CBWD5
      QuantiTect SYBR Green Assays in human, mouse, rat CBWD5
      QuantiFast Probe-based Assays in human, mouse, rat CBWD5

    Additional mRNA sequence: AF065414.1 

    Selected DOTS entries (see all 56):

    DT.100038778  DT.99947945  DT.121202301  DT.100890097  DT.318244  DT.121166890  DT.121202407  DT.99992243 
    DT.97801554  DT.121156666  DT.95318807  DT.100890111  DT.121202221  DT.121156658  DT.121202492  DT.318240 
    DT.100038781  DT.121156677  DT.92460277  DT.95175866  DT.95361228  DT.121156661  DT.121156708  DT.121202224 

    Selected AceView cDNA sequences (see all 320):

    BF173972 W57790 Z41806 CB266974 AI476513 N33387 H20934 AW406098 
    BI857109 BE042747 AI074452 Z46181 BM665591 AI935941 BM782265 AA156743 
    BE139548 AA908884 BI256822 F03635 AW189867 BU625635 BM784929 BM977399 

    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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    CBWD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGTTTATA
    CBWD5 Expression
    About this image

    CBWD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBWD5 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.355950 Hs.635227 Hs.645504
        Custom PCR Arrays for CBWD5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBWD5

    (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 CBWD5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CBWD16
    COBW domain-containing protein 1
    63(a)
    1 → many
    Z(25552426-25574010)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    64(a)
    1 → many
    2(49999445-50023007)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.122502 Xenopus laevis transcribed sequence with moderate similarity more 74.81(n)    BX851603.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cbwd6
    COBW domain containing
    63(a)
    1 → many
    8(31273742-31298114) ENSDARG00000004318
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative protein of unknown function, deletion con...
    27(a)
    1 → many
    XIV(677199-678488) YNR029C
            Species with no ortholog for CBWD5

    ENSEMBL Gene Tree for CBWD5 (if available)
    TreeFam Gene Tree for CBWD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBWD5 gene
    CBWD22  CBWD62  CBWD32  CBWD12  CBWD72  
    5 SIMAP similar genes for CBWD5 using alignment to 8 protein entries:     CBWD5_HUMAN (see all proteins):
    CBWD2    CBWD6    CBWD7    CBWD1    CBWD3

    Find genes that share paralogs with CBWD5           About GenesLikeMe



    (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 CBWD5 (see all 91)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001087811,2
    C--70477879(+) CCAATG/TAATTC 1 -- int10--------
    rs3766680871,2
    C--70477984(+) AGACAA/CTCAAA 1 -- int10--------
    rs2001980411,2
    --70479356(+) TCGTG-/AAAGTA 1 -- int10--------
    rs2007464171,2
    C--70482688(+) ACTTA-/ACACAG 1 -- int10--------
    rs2016408861,2
    C--70483042(+) CAACCA/GAGTAC 1 -- int10--------
    rs2000258531,2
    C--70483940(+) GGGTAA/GCTCTT 1 -- int10--------
    rs2011752951,2
    C--70484003(+) AACATA/GATGTA 1 -- int10--------
    rs2020662121,2
    C,F--70484397(+) GCAACC/AGTTTC 2 /G /C mis11Minor allele frequency- A:0.00EU 791
    rs2020243681,2
    C,F--70484451(+) AGCTAA/GGATTT 2 L syn11Minor allele frequency- G:0.10EU 715
    rs785489601,2
    C--70484619(+) TGATAC/TCTAAA 1 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for CBWD5 (70432004 - 70497240 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CBWD5:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv135n16CNV Deletion17901297
    esv33449CNV Loss17666407
    nsv8518CNV Gain+Loss18304495
    essv2899CNV CNV17122850
    dgv2383e1CNV Complex17122850
    dgv2381e1CNV Complex17122850
    nsv469665CNV Complex16826518

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CBWD5
    DNA2.0 Custom Variant and Variant Library Synthesis for CBWD5

    (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 CBWD5 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with CBWD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. 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)
    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. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PubMed id 12421752)1 Fan Y.... Trask B.J. (Genome Res. 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: 220869 HGNC: 24584 AceView: LOC55871.1 Ensembl:ENSG00000147996 euGenes: HUgn220869
    ECgene: CBWD5 H-InvDB: CBWD5

    (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 CBWD5 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 CBWD5 gene:
    Search GeneIP for patents involving CBWD5

    GeneCards and IP:
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