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

DCAF12 Gene

protein-coding   GIFtS: 46
GCID: GC09M034079

DDB1 And CUL4 Associated Factor 12

(Previous names: KIAA1892, WD repeat domain 40A)
(Previous symbols: KIAA1892, WDR40A)
  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
DDB1 And CUL4 Associated Factor 121 2     Testis Cancer Centrosome-Related Protein2 3
KIAA18921 2 3     TCC522 3
WDR40A1 2 3     WD Repeat-Containing Protein 40A2 3
WD Repeat Domain 40A1 2     CT1022
Cancer/Testis Antigen 1021 2     DDB1- And CUL4-Associated Factor 122
Centrosome-Related Protein TCC522 3     

External Ids:    HGNC: 199111   Entrez Gene: 258532   Ensembl: ENSG000001988767   UniProtKB: Q5T6F03   

Export aliases for DCAF12 gene to outside databases


(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 DCAF12 Gene:
This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular
complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8
conjugates. (provided by RefSeq, Jul 2009)

GeneCards Summary for DCAF12 Gene: 
DCAF12 (DDB1 and CUL4 associated factor 12) is a protein-coding gene. Diseases associated with DCAF12 include lung cancer, and gastric cancer. An important paralog of this gene is DCAF12L1.

UniProtKB/Swiss-Prot: DCA12_HUMAN, Q5T6F0
Function: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex




(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  NC_018920.2  NT_008413.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DCAF12
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCAF12 promoter sequence
   Search SABiosciences Chromatin IP Primers for DCAF12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCAF12


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p11.2

DCAF12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCAF12 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M034079:  view genomic region     (about GC identifiers)

Start:
34,086,381 bp from pter      End:
34,127,397 bp from pter
Size:
41,017 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: DCA12_HUMAN, Q5T6F0 (See protein sequence)
Recommended Name: DDB1- and CUL4-associated factor 12  
Size: 453 amino acids; 50517 Da
Subunit: Interacts with DDB1
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Sequence caution: Sequence=BAA91106.1; Type=Frameshift; Positions=27; Sequence=BAB67785.1; Type=Erroneous
initiation; Sequence=CAI15300.1; Type=Erroneous gene model prediction; Sequence=CAI15302.1; Type=Erroneous gene
model prediction;
1 PDB 3D structure from and Proteopedia for DCAF12:
3I7P (3D)    
Secondary accessions: A8KA70 D3DRL6 Q5T6E9 Q5T6F1 Q6P3V0 Q7L4F8 Q96PZ5 Q9NXA9 Q9UFJ1

Explore the universe of human proteins at neXtProt for DCAF12: NX_Q5T6F0

Explore proteomics data for DCAF12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5T6F0

  • DCAF12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DCAF12 Protein Expression
    REFSEQ proteins: NP_056212.1  
    ENSEMBL proteins: 
     ENSP00000355114   ENSP00000380187   ENSP00000415833  

    Human Recombinant Protein Products for DCAF12: 
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    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for DCAF12 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18957058
    GO:0005813centrosome IDA18957058
    GO:0080008Cul4-RING ubiquitin ligase complex IDA16949367

    DCAF12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DCAF: DDB1 and CUL4 associated factors
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q5T6F0

    ProtoNet protein and cluster: Q5T6F0

    UniProtKB/Swiss-Prot: DCA12_HUMAN, Q5T6F0
    Similarity: Belongs to the WD repeat DCAF12 family
    Similarity: Contains 4 WD repeats


    DCAF12 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: DCA12_HUMAN, Q5T6F0
    Function: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    DCAF12 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DCAF12 
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    SwitchGear 3'UTR luciferase reporter plasmidDCAF12 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



    UniProtKB/Swiss-Prot: DCA12_HUMAN, Q5T6F0
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DCAF12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/27 Interacting proteins for DCAF12 (Q5T6F03 ENSP000003551144) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDB1Q165313, ENSP000003017644I2D: score=1 STRING: ENSP00000301764
    CUL4AQ136193, ENSP000003645894I2D: score=1 STRING: ENSP00000364589
    BMPR1BO002383, ENSP000002645684I2D: score=3 STRING: ENSP00000264568
    TGFBR1P368973, ENSP000003641334I2D: score=4 STRING: ENSP00000364133
    AXIN2Q9Y2T13I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--

    DCAF12 for ontologies           About GeneDecksing



    (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 DCAF12 (DCA12)

    Search CenterWatch for drugs/clinical trials and news about DCAF12 / DCA12

    (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 DCAF12 gene: 
    NM_015397.3  

    Unigene Clusters for DCAF12:

    DDB1 and CUL4 associated factor 12
    Hs.493750  [show with all ESTs], Hs.741270  [show with all ESTs]
    Unigene Representative Sequences: BM477163, NM_015397
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361264(uc003ztt.2) ENST00000466402 ENST00000396990 ENST00000450964
    ENST00000463286
    miRNA
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    hsa-miR-520e hsa-miR-3938 hsa-miR-300 hsa-miR-146a hsa-miR-138-2* hsa-miR-371-5p hsa-miR-208b hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidDCAF12 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB067479.1 AF131771.1 AK000354.1 AK292935.1 AL117646.1 BC008893.2 BC063823.1 DQ518909.1 

    10 DOTS entries:

    DT.456182  DT.100757767  DT.100708325  DT.92057874  DT.121203710  DT.91719845  DT.100815044  DT.440635 
    DT.95356002  DT.97774544 

    24/322 AceView cDNA sequences (see all 322):

    AA383244 AW594242 AI825215 BM750613 AI683482 AA676565 AW673670 AA676535 
    AA832256 AW731634 AI680758 BQ424510 BM772534 BQ425196 AA835632 BX406146 
    CF528666 AI698685 AI247498 CB850845 BQ423694 BI834589 BP374864 AA233436 

    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

    DCAF12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAAGATAA
    DCAF12 Expression
    About this image


    See DCAF12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCAF12

    SOURCE GeneReport for Unigene clusters: Hs.493750 Hs.741270

    UniProtKB/Swiss-Prot: DCA12_HUMAN, Q5T6F0
    Tissue specificity: Highly expressed in lung cancer tissues and some cancer cell lines. Restricted expression in
    normal testis

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DCAF12 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dcaf121 , 5 DDB1 and CUL4 associated factor 121, 5 91.61(n)1
    98.45(a)1
      4 (21.32 cM)5
    689701  NM_026893.31  NP_081169.21 
     412913005 
    chicken
    (Gallus gallus)
    Aves DCAF121 DDB1 and CUL4 associated factor 12 80.5(n)
    91.27(a)
      427396  NM_001031444.1  NP_001026615.1 
    lizard
    (Anolis carolinensis)
    Reptilia DCAF126
    Uncharacterized protein
    92(a)
    1 ↔ 1
    GL343372.1(914088-924597)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37282 Xenopus laevis transcribed sequence with moderate similarity to protein pirT17338 (H.sapiens) T17338 hypothetical protein DKFZp434O125.1 - human (fragment) less 79.27(n)    CF286017.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dcaf121 DDB1 and CUL4 associated factor 12 68.83(n)
    77.35(a)
      570671  NM_001077580.1  NP_001071048.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33131 CG3313 50.96(n)
    43.3(a)
      41460  NM_141888.3  NP_650145.1 


    ENSEMBL Gene Tree for DCAF12 (if available)
    TreeFam Gene Tree for DCAF12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DCAF12 gene
    DCAF12L12  DCAF12L22  
    2 SIMAP similar genes for DCAF12 using alignment to 1 protein entry:     DCA12_HUMAN:
    DCAF12L2    DCAF12L1

    DCAF12 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) 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

    10/896 SNPs in DCAF12 are shown (see all 896)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358520351,2
    C--34060266(+) AAAAA-/A/A   
       AAAAA
    GAGAA
    1 -- int11NA 2
    rs734910381,2
    C,F--34086024(+) AATATC/TCTATT 1 -- ds50012Minor allele frequency- T:0.10WA 120
    rs1860999791,2
    --34086160(+) TCCACC/TCTCAG 1 -- ds50010--------
    rs1910992201,2
    --34086490(+) AAGAGC/GGTCTA 1 -- ut310--------
    rs1821175241,2
    --34086577(+) AGAACA/TAAGAA 1 -- ut310--------
    rs1173177271,2
    C,F--34086760(+) CTCTCC/TTCTCC 1 -- ut311Minor allele frequency- T:0.02EA 120
    rs768392191,2
    C--34086795(+) GAATAC/TATATA 1 -- ut310--------
    rs1486383831,2
    --34086798(+) TATATA/GTATAA 1 -- ut310--------
    rs744588891,2
    C,F--34086859(+) GAGAAC/GAAGTT 1 -- ut311Minor allele frequency- G:0.05EA 120
    rs1877791511,2
    --34086975(+) TGTTAC/TCTTTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DCAF12 (34086381 - 34127397 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for DCAF12:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1336e199CNV Deletion23128226
    esv2676427CNV Deletion23128226
    nsv509300CNV Insertion20534489
    esv1229280CNV Insertion17803354
    nsv6525CNV Loss18451855
    nsv893030CNV Gain21882294
    nsv893033CNV Gain21882294
    nsv520467CNV Gain19592680
    nsv893028CNV Gain21882294
    nsv819806CNV Gain19587683

    SABiosciences Cancer Mutation PCR Assays
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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
    2 diseases for DCAF12:    About MalaCards
    lung cancer    gastric cancer


    DCAF12 for disorders           About GeneDecksing


    Export disorders for DCAF12 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 DCAF12 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with DCAF12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T....Ohara O. (2001)
    2. Novel centrosome protein, TCC52, is a cancer-testis antigen. (PubMed id 18957058)1, 2 Li S....He D. (2008)
    3. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PubMed id 16949367)1, 2 Jin J.... Walter J.C. (2006)
    4. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    8. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    9. An interaction network of the mammalian COP9 signalos ome identifies Dda1 as a core subunit of multiple Cul4-based E3 ligases. (PubMed id 19295130)1 Olma M.H....Pintard L. (2009)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    (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: 25853 HGNC: 19911 AceView: WDR40A Ensembl:ENSG00000198876 euGenes: HUgn25853
    ECgene: DCAF12 H-InvDB: DCAF12

    (According to HUGE)
    About This Section
    HUGE: KIAA1892

    (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 DCAF12 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 DCAF12 gene:
    Search GeneIP for patents involving DCAF12

    GeneCards and IP:
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