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

CBWD1 Gene

protein-coding   GIFtS: 48
GCID: GC09M000121

COBW Domain Containing 1

  Search for CBWD1
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
COBW Domain Containing 11 2     Cobalamin Synthetase W Domain-Containing Protein 12
Cobalamin Synthase W Domain-Containing Protein 12 3     COBW Domain-Containing Protein 12
COBP2 3     COBW-Like Protein2
NPC-A-6 COBW Domain-Containing Protein 12 3     NPC-A-63

External Ids:    HGNC: 171341   Entrez Gene: 558712   Ensembl: ENSG000001727857   OMIM: 6110785   UniProtKB: Q9BRT83   

Export aliases for CBWD1 gene to outside databases

Previous GC identifers: GC00U991133 GC09M000111


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

GeneCards Summary for CBWD1 Gene: 
CBWD1 (COBW domain containing 1) is a protein-coding gene. GO annotations related to this gene include ATP binding. An important paralog of this gene is CBWD2.

Gene Wiki entry for CBWD1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBWD1 gene promoter:
         Pax-6   ATF-2   IRF-7A   c-Jun   POU3F2   Cdc5   MRF-2   GATA-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CBWD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBWD1


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

Entrez Gene cytogenetic band: 9p24.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

CBWD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBWD1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M000121:  view genomic region     (about GC identifiers)

Start:
121,038 bp from pter      End:
188,979 bp from pter
Size:
67,942 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: CBWD1_HUMAN, Q9BRT8 (See protein sequence)
Recommended Name: COBW domain-containing protein 1  
Size: 395 amino acids; 44068 Da
Secondary accessions: A2RU55 A8K3N3 B0AZR4 Q49AJ1 Q5VVK2 Q6VBU6 Q7Z5Z0 Q7Z652 Q9BY38 Q9NYD0
Alternative splicing: 4 isoforms:  Q9BRT8-1   Q9BRT8-2   Q9BRT8-3   Q9BRT8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CBWD1: NX_Q9BRT8

Explore proteomics data for CBWD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BRT8

  • CBWD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CBWD1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001138827.1  NP_001138828.1  NP_060961.3  

    ENSEMBL proteins: 
     ENSP00000348915   ENSP00000371885   ENSP00000323433   ENSP00000366666   ENSP00000406064  
     ENSP00000371830   ENSP00000371826   ENSP00000366617  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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 Q9BRT8

    ProtoNet protein and cluster: Q9BRT8

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


    UniProtKB/Swiss-Prot: CBWD1_HUMAN, Q9BRT8
    Similarity: Belongs to the CobW family
    Similarity: Contains 1 cobW C-terminal domain


    CBWD1 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: CBWD1_HUMAN, Q9BRT8
    Induction: Increased expression in response to dopamine treatment

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    CBWD1 for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-3611 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCBWD1 3' UTR sequence
    Inhib. RNA
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    (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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CBWD1

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

    5/27 Interacting proteins for CBWD1 (Q9BRT81, 3 ENSP000003489154) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    METAP1P535821, 3, ENSP000002964114EBI-1054417,EBI-1051435 I2D: score=3 STRING: ENSP00000296411
    GCLMP485071, 3, ENSP000003592584EBI-1054417,EBI-1051387 I2D: score=1 STRING: ENSP00000359258
    CNIH4Q9P0031, 3, ENSP000004204434EBI-1054417,EBI-1044341 I2D: score=1 STRING: ENSP00000420443
    SSR4P515711, 3, ENSP000003173314EBI-1054417,EBI-1054539 I2D: score=1 STRING: ENSP00000317331
    ENSG00000258947Q135093I2D: score=1 
    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 CBWD1

    Search CenterWatch for drugs/clinical trials and news about CBWD1

    (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 CBWD1 gene (3 alternative transcripts): 
    NM_001145355.1  NM_001145356.1  NM_018491.3  

    Unigene Clusters for CBWD1:

    COBW domain containing 1
    Hs.531330  [show with all ESTs], Hs.645337  [show with all ESTs]
    Unigene Representative Sequences: CR627338, BC067803
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356521(uc003zgb.4 uc003zga.4 uc003zgc.4) ENST00000475990
    ENST00000382447 ENST00000487575 ENST00000314367(uc011llr.1) ENST00000465014
    ENST00000464198 ENST00000495302(uc010mgs.3) ENST00000462513 ENST00000475411
    ENST00000498044 ENST00000489272 ENST00000377447 ENST00000431099 ENST00000483817
    ENST00000382393(uc003zgd.2) ENST00000382389 ENST00000377400
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CBWD1:
    hsa-miR-3611 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCBWD1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF265442.1 AK092175.1 AK292585.1 AK293173.1 AK297912.1 AY343911.1 AY344633.1 BC067803.1 
    BC069006.1 BC082271.1 BC132759.1 BC141856.1 

    24/63 DOTS entries (see all 63):

    DT.95115608  DT.121166890  DT.121202301  DT.100890095  DT.99947945  DT.449862  DT.121202407  DT.120971515 
    DT.95175805  DT.92460248  DT.95175816  DT.121202400  DT.92460279  DT.95175858  DT.100890106  DT.95175886 
    DT.318244  DT.95175866  DT.100038781  DT.120971500  DT.121166893  DT.100890111  DT.99992243  DT.121166882 

    24/299 AceView cDNA sequences (see all 299):

    AI144241 AV708877 AA808637 CD107464 AL531614 BU628764 CR610931 AI143308 
    BU621970 BC037212 AA707696 AW052189 AA765802 BQ775802 AL540640 AL545680 
    CR590614 AI753165 BM720516 AI628234 AA035656 AA806479 BU738247 BG184187 

    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™, 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

    CBWD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAAAAGG
    CBWD1 Expression
    About this image


    See CBWD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CBWD1

    SOURCE GeneReport for Unigene clusters: Hs.531330 Hs.645337

    UniProtKB/Swiss-Prot: CBWD1_HUMAN, Q9BRT8
    Tissue specificity: Ubiquitously expressed. Up-regulated in cultured astrocytes treated with dopamine

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBWD1

    (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 CBWD1 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbwd11 , 5 COBW domain containing 11, 5 84.7(n)1
    82.05(a)1
      19 (19.86 cM)5
    2260431  NM_146097.31  NP_666209.11 
     249199165 
    chicken
    (Gallus gallus)
    Aves CBWD11 COBW domain containing 1 73.83(n)
    77.96(a)
      427347  NM_001031436.1  NP_001026607.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    70(a)
    1 → many
    2(49999445-50023007)
    zebrafish
    (Danio rerio)
    Actinopterygii cbwd1 COBW domain containing 68.89(n)
    73.33(a)
      406536  NM_213253.1  NP_998418.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YNR029C6
    Putative protein of unknown function, deletion con...
    34(a)
    1 → many
    XIV(677199-678488)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G265201 Cobalamin biosynthesis CobW-like protein 52.11(n)
    40.23(a)
      839192  NM_102414.3  NP_173974.3 
    rice
    (Oryza sativa)
    Liliopsida Os.473852 Oryza sativa (japonica cultivar-group) cDNA clone002-107-C11, full insert sequence less 71.04(n)    AK106521.1 


    ENSEMBL Gene Tree for CBWD1 (if available)
    TreeFam Gene Tree for CBWD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CBWD1 gene
    CBWD22  CBWD62  CBWD32  CBWD72  CBWD52  
    5 SIMAP similar genes for CBWD1 using alignment to 4 protein entries:     CBWD1_HUMAN (see all proteins):
    CBWD2    CBWD5    CBWD3    CBWD7    CBWD6

    CBWD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CBWD1
    PGOHUM00000236195


    (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

    10/989 SNPs in CBWD1 are shown (see all 989)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0269794
    ----see VAR_0269792 A V mis40--------
    rs27579661,2
    C,F,O--120568(-) GCGCTA/GGGAAA 3 -- int12Minor allele frequency- G:0.00NA 4
    rs1414669281,2
    --120606(+) AAAAAC/TACAGG 3 -- int10--------
    rs109595101,2
    C,F--120650(+) AAAACT/CCACAT 3 -- int15Minor allele frequency- C:0.44NA CSA 9
    rs22605591,2
    C,F,A,H--120676(-) TTCCCG/ACCTTT 3 -- int110Minor allele frequency- A:0.21NS EA NA WA CSA 429
    rs41263961,2
    --120722(-) aattaG/Tcccag 3 -- int10--------
    rs1433290021,2
    --120831(+) AGGGAA/CAACTG 3 -- int10--------
    rs70221041,2
    C,A--120951(+) CACAGT/AATGAA 3 -- int11Minor allele frequency- A:0.00NA 2
    rs2001025481,2
    C--121206(+) TGTTCA/GGTATA 3 -- ut310--------
    rs1432199821,2
    C--121504(+) TTGTCC/AACTGC 6 /W /L mis11Minor allele frequency- A:0.00NA 4548

    HapMap Linkage Disequilibrium report for CBWD1 (121038 - 188979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for CBWD1 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2668459CNV Deletion23128226
    esv2674955CNV Deletion23128226
    nsv471465CNV Duplication19718026
    dgv7989n71CNV Loss21882294
    nsv891939CNV Loss21882294
    nsv891943CNV Gain21882294
    esv27644CNV Gain19812545
    dgv7991n71CNV Gain21882294
    dgv253e55CNV Gain17911159
    nsv891940CNV Gain21882294

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    (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

    CBWD1 for disorders           About MalaCards
    OMIM gene information: 611078    OMIM disorders: --


    CBWD1 for disorders           About GeneDecksing


    Export disorders for CBWD1 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 CBWD1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CBWD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diverse fates of paralogs following segmental duplication of telomeric genes. (PubMed id 15233989)1, 2, 3 Wong A....Ledbetter D.H. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    4. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PubMed id 12421752)1, 3 Fan Y.... Trask B.J. (2002)
    5. Identification of dopamine responsive mRNAs in glial cells by suppression subtractive hybridization. (PubMed id 11489251)1, 2 Shi J.... Xie Y. (2001)
    6. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (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: 55871 HGNC: 17134 AceView: LOC55871 Ensembl:ENSG00000172785 euGenes: HUgn55871
    ECgene: CBWD1 H-InvDB: CBWD1

    (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 CBWD1 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 CBWD1 gene:
    Search GeneIP for patents involving CBWD1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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