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

DCAF12L1 Gene

protein-coding   GIFtS: 42
GCID: GC0XM125683

DDB1 And CUL4 Associated Factor 12-Like 1

(Previous name: WD repeat domain 40B)
(Previous symbol: WDR40B)
  Search for DCAF12L1
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 12-Like 11 2
WDR40B1 2 3
WD Repeat Domain 40B1 2
WD Repeat-Containing Protein 40B2 3
KIAA1892L2
DDB1- And CUL4-Associated Factor 12-Like Protein 12

External Ids:    HGNC: 293951   Entrez Gene: 1391702   Ensembl: ENSG000001988897   UniProtKB: Q5VU923   

Export aliases for DCAF12L1 gene to outside databases

Previous GC identifers: GC0XM125512 GC0XM115062


(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 DCAF12L1 Gene:
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of
approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation
of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular
processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. (provided by
RefSeq, Jul 2008)

GeneCards Summary for DCAF12L1 Gene: 
DCAF12L1 (DDB1 and CUL4 associated factor 12-like 1) is a protein-coding gene. GO annotations related to this gene include molecular_function. An important paralog of this gene is DCAF12.




(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_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DCAF12L1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DCAF12L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCAF12L1


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

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq25   HGNC cytogenetic band: Xq25

DCAF12L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCAF12L1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM125683:  view genomic region     (about GC identifiers)

Start:
125,683,366 bp from pter      End:
125,686,842 bp from pter
Size:
3,477 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: DC121_HUMAN, Q5VU92 (See protein sequence)
Recommended Name: DDB1- and CUL4-associated factor 12-like protein 1  
Size: 463 amino acids; 51201 Da
Secondary accessions: Q8IYK3

Explore the universe of human proteins at neXtProt for DCAF12L1: NX_Q5VU92

Explore proteomics data for DCAF12L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VU92

  • DCAF12L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DCAF12L1 Protein Expression
    REFSEQ proteins: NP_848565.2  
    ENSEMBL proteins: 
     ENSP00000360167  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    DCAF12L1 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: 
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q5VU92

    ProtoNet protein and cluster: Q5VU92

    UniProtKB/Swiss-Prot: DC121_HUMAN, Q5VU92
    Similarity: Belongs to the WD repeat DCAF12 family
    Similarity: Contains 4 WD repeats


    DCAF12L1 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    DCAF12L1 for ontologies           About GeneDecksing


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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 DCAF12L1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for DCAF12L1 (ENSP000003601674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMPR1BENSP000002645684STRING: ENSP00000264568
    TGFBR1ENSP000003641334STRING: ENSP00000364133
    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:0008150biological_process ND--

    DCAF12L1 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 DCAF12L1 (DC121)

    Search CenterWatch for drugs/clinical trials and news about DCAF12L1 / DC121

    (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,
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    About This Section

    REFSEQ mRNAs for DCAF12L1 gene: 
    NM_178470.4  

    Unigene Cluster for DCAF12L1:

    DDB1 and CUL4 associated factor 12-like 1
    Hs.120403  [show with all ESTs]
    Unigene Representative Sequence: NM_178470
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371126(uc004eul.3)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: BC035674.1 

    1 DOTS entry:

    DT.106864 

    11 AceView cDNA sequences:

    AI758399 BM563914 AA983785 NM_178470 BC035674 AA885034 AA883751 AW572906 
    AA723819 AI139786 BX100533 

    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

    DCAF12L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DCAF12L1 Expression
    About this image


    See DCAF12L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCAF12L1

    SOURCE GeneReport for Unigene cluster: Hs.120403
        SABiosciences Custom PCR Arrays for DCAF12L1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCAF12L1

    (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 DCAF12L1 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33136
    --
    37(a)
    1 → many
    3R(7840665-7842753)
            Species with no ortholog for DCAF12L1

    ENSEMBL Gene Tree for DCAF12L1 (if available)
    TreeFam Gene Tree for DCAF12L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DCAF12L1 gene
    DCAF122  DCAF12L22  
    2 SIMAP similar genes for DCAF12L1 using alignment to 1 protein entry:     DC121_HUMAN:
    DCAF12L2    DCAF12

    DCAF12L1 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

    10/86 SNPs in DCAF12L1 are shown (see all 86)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1857031991,2
    --125638498(+) AAGAAC/TACCAT 1 -- ds50010--------
    rs120102051,2
    C,H--125638520(+) ATTGCC/GTACAA 1 -- ds50014Minor allele frequency- G:0.00NS EA 418
    rs1910400281,2
    --125638642(+) TCTGAA/GAAAAA 1 -- ds50010--------
    rs607010151,2
    C,F--125638648(+) AAAAAG/AACAAA 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs66354931,2
    C,A--125638649(+) aaaaaA/Ccaaaa 1 -- ds50010--------
    rs1832189001,2
    --125638811(+) AATCAA/GGGCAA 1 -- ds50010--------
    rs1876803341,2
    --125638940(+) CATATG/TTACTT 1 -- ut310--------
    rs1909615671,2
    --125639025(+) AGACAC/TTTACA 1 -- ut310--------
    rs1491186281,2
    C--125639044(+) GGAGAC/TGCATG 1 -- ut310--------
    rs1431824861,2
    C--125639783(+) CCTGCG/TTTTCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DCAF12L1 (125683366 - 125686842 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DCAF12L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7078CNV Insertion18451855
    nsv483075CNV Gain15286789


    Locus Specific Mutation Databases (LSDB): DCAF12L1
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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
      --

    (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 DCAF12L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DCAF12L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. 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 Jin J.... Walter J.C. (2006)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    4. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 139170 HGNC: 29395 AceView: WDR40B Ensembl:ENSG00000198889 euGenes: HUgn139170
    ECgene: DCAF12L1 H-InvDB: DCAF12L1

    (According to HUGE)
    About This Section
    HUGE: KIAA1892L

    (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 DCAF12L1 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 DCAF12L1 gene:
    Search GeneIP for patents involving DCAF12L1

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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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    (GIFtS: 73)
    transforming growth factor, beta 1
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