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DDX11 Gene

protein-coding   GIFtS: 64
GCID: GC12P031226

DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 11

(Previous names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae...)
  See DDX11-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)
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Aliases
DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 111 2     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 (S.Cerevisiae CHL1-Like
Helicase)1
CHLR12 3 5     WABS2
KRG22 3 5     CHL1-Like Helicase Homolog2
Keratinocyte Growth Factor-Regulated Gene 2 Protein2 3     CHL1-Related Helicase Gene-12
CHL12 3     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 (CHL1-Like Helicase
Homolog, S. Cerevisiae)2
KRG-22 3     Probable ATP-Dependent RNA Helicase DDX112
CHL1-Related Protein 12 3     EC 3.6.4.133
DEAD/H Box Protein 112 3     EC 3.6.18
hCHLR12 3     EC 3.6.1.238
CHL1-Like Helicase Homolog (S. Cerevisiae)1     EC 3.6.1.78
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 111     

External Ids:    HGNC: 27361   Entrez Gene: 16632   Ensembl: ENSG000000135737   OMIM: 6011505   UniProtKB: Q96FC93   

Export aliases for DDX11 gene to outside databases

Previous GC identifers: GC12P031609 GC12P031250 GC12P031127 GC12P031118 GC12P030992


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DDX11 Gene:
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They
are implicated in a number of cellular processes involving alteration of RNA secondary structure such as
translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their
distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis,
and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both
ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain
chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript
variants encoding distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for DDX11 Gene:
DDX11 (DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11) is a protein-coding gene. Diseases associated with DDX11 include warsaw breakage syndrome, and roberts syndrome. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and RNA binding. An important paralog of this gene is RTEL1.

UniProtKB/Swiss-Prot: DDX11_HUMAN, Q96FC9
Function: DNA helicase involved in cellular proliferation. Possesses DNA-dependent ATPase and helicase activities.
This helicase translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a
lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since
flush-ended duplex structures do not support unwinding. The helicase activity is capable of displacing duplex
regions up to 100 bp, which can be extended to 500 bp by RPA or the cohesion establishment factor, the Ctf18-RFC
(replication factor C) complex activities. Stimulates the flap endonuclease activity of FEN1. Required for normal
sister chromatid cohesion. Required for recruitment of bovine papillomavirus type 1 regulatory protein E2 to
mitotic chrmosomes and for viral genome maintenance. Required for maintaining the chromosome segregation and is
essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M
phase of the cell cycle. Binds to both single- and double-stranded DNA

Gene Wiki entry for DDX11 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDX11 gene promoter:
         c-Fos   Bach1   AP-1   JunB   Fra-1   FosB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DDX11 promoter sequence
   Search Chromatin IP Primers for DDX11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX11


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

Entrez Gene cytogenetic band: 12p11   Ensembl cytogenetic band:  12p11.21   HGNC cytogenetic band: 12p11.21

DDX11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX11 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P031226:  view genomic region     (about GC identifiers)

Start:
31,226,779 bp from pter      End:
31,257,725 bp from pter
Size:
30,947 bases      Orientation:
plus 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: DDX11_HUMAN, Q96FC9 (See protein sequence)
Recommended Name: Probable ATP-dependent RNA helicase DDX11  
Size: 970 amino acids; 108313 Da
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
Subunit: Interacts with the CTF18-RFC complex, PCNA and FEN1. Forms a complex with RAD21, SMC1 and SMC3. Interacts
with bovine papillomavirus type 1 regulatory protein E2
Sequence caution: Sequence=CAA67895.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA67895.1; Type=Frameshift; Positions=644, 648;
Secondary accessions: Q13333 Q86VQ4 Q86W62 Q92498 Q92770 Q92998 Q92999
Alternative splicing: 5 isoforms:  Q96FC9-1   Q96FC9-2   Q96FC9-3   Q96FC9-4   Q96FC9-5   

Explore the universe of human proteins at neXtProt for DDX11: NX_Q96FC9

Explore proteomics data for DDX11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys38, Lys273, Lys526, Lys611
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDX11 (Q96FC9) (see all 27)
     SRTHSQL  YGKRLKA  EAGKIGI  VGGKMSE 


    See DDX11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001244073.1  NP_001244074.1  NP_004390.3  NP_085911.2  NP_689651.1  

    ENSEMBL proteins: 
     ENSP00000443426   ENSP00000442466   ENSP00000228264   ENSP00000407646   ENSP00000406799  
     ENSP00000443578   ENSP00000445568   ENSP00000406457   ENSP00000440402   ENSP00000309965  
     ENSP00000439298   ENSP00000441425   ENSP00000440171   ENSP00000473610   ENSP00000445219  
     ENSP00000443750   ENSP00000441015   ENSP00000384703   ENSP00000251758  
    Reactome Protein details: Q96FC9

    DDX11 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for DDX11
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    Novus Biologicals DDX11 Proteins
    Novus Biologicals DDX11 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDX11

     
    Search eBioscience for Proteins for DDX11 

     
    antibodies-online proteins for DDX11 (4 products) 

     
    antibodies-online peptides for DDX11

    DDX11 Antibody Products:

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    Abcam antibodies for DDX11
    Cloud-Clone Corp. Antibodies for DDX11
    ThermoFisher Antibodies for DDX11
    antibodies-online antibodies for DDX11 (32 products) 

    DDX11 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DDX11
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DDX11
    Cloud-Clone Corp. CLIAs for DDX11
    Search eBioscience for ELISAs for DDX11 
    antibodies-online kits for DDX11 (14 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DDX: DEAD-boxes

    Selected InterPro protein domains (see all 7):
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR010614 DEAD_2
     IPR027417 P-loop_NTPase
     IPR006554 Helicase-like_DEXD_c2
     IPR006555 ATP-dep_Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q96FC9

    ProtoNet protein and cluster: Q96FC9

    1 Blocks protein domain: IPB002464 ATP-dependent helicase

    UniProtKB/Swiss-Prot: DDX11_HUMAN, Q96FC9
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    Find genes that share domains with DDX11           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDX11_HUMAN, Q96FC9
    Function: DNA helicase involved in cellular proliferation. Possesses DNA-dependent ATPase and helicase activities.
    This helicase translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a
    lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since
    flush-ended duplex structures do not support unwinding. The helicase activity is capable of displacing duplex
    regions up to 100 bp, which can be extended to 500 bp by RPA or the cohesion establishment factor, the Ctf18-RFC
    (replication factor C) complex activities. Stimulates the flap endonuclease activity of FEN1. Required for normal
    sister chromatid cohesion. Required for recruitment of bovine papillomavirus type 1 regulatory protein E2 to
    mitotic chrmosomes and for viral genome maintenance. Required for maintaining the chromosome segregation and is
    essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M
    phase of the cell cycle. Binds to both single- and double-stranded DNA
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Enzyme regulation: Helicase shows maximal activity with magnesium ions at low concentrations (0.5-1mM) whereas is
    markedly inhibited at higher levels (5 mM and above). Stimulated by 25-50 mM potassium acetate, stimulated to a
    lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate. The ATPase activity is
    stimulated by high salt levels (up to a 0.1 M) and potassium salts (glutamate, chloride or acetate) are more
    effective than the corresponding sodium salts

         Genatlas biochemistry entry for DDX11:
    DEAD/H box protein 11,yeast Chl1 related-helicase gene 1,putative regulator of chromosome segregation and
    transmission

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131 EC 3.6.1.72 EC 3.6.1.232

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003678DNA helicase activity TAS9013641
    GO:0003723RNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IEA--
         
    Find genes that share ontologies with DDX11           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ddx11):
     cardiovascular system  cellular  embryogenesis  growth/size/body  mortality/aging 
     nervous system 

    Find genes that share phenotypes with DDX11           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ddx11tm1Jiml for DDX11

       genOway: Develop your customized and physiologically relevant rodent model for DDX11

    miRNA
    Products:
        
    miRTarBase miRNAs that target DDX11:
    hsa-mir-744-5p (MIRT037623), hsa-mir-615-3p (MIRT040191), hsa-mir-324-5p (MIRT043115)

    Block miRNA regulation of human, mouse, rat DDX11 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DDX11:
    hsa-miR-302f
    SwitchGear 3'UTR luciferase reporter plasmidDDX11 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DDX11
    Predesigned siRNA for gene silencing in human, mouse, rat DDX11

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DDX11

    Clone
    Products:
         
    OriGene clones in human, mouse for DDX11 (see all 18)
    OriGene ORF clones in mouse, rat for DDX11
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): DDX11 (NM_030653)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX11

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DDX11
    Browse ESI BIO Cell Lines and PureStem Progenitors for DDX11 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX11


    (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 UniProtKB/Swiss-Prot
    DDX11_HUMAN, Q96FC9: Nucleus. Nucleus, nucleolus. Note=During the early stages of mitosis, localizes to condensed
    chromatin and is released from the chromatin with progression to metaphase. Also localizes to the spindle poles
    throughout mitosis and at the midbody at later stages of mitosis (metaphase to telophase). Co-localizes with
    bovine papillomavirus type 1 regulatory protein E2 at early stages of mitosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane3
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA17105772
    GO:0000922spindle pole IDA17105772
    GO:0005634colocalizes with nucleus IDA17189189
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with DDX11           About GenesLikeMe


    (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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    SuperPaths for DDX11 About    
    See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with DDX11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DDX11
        XBP1(S) activates chaperone genes


        Pathway & Disease-focused RT2 Profiler PCR Array including DDX11: 
              Prostate Cancer in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DDX11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DDX11 (Q96FC92, 3 ENSP000003847034) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT7O952512, 3, ENSP000002590214MINT-65143 I2D: score=5 STRING: ENSP00000259021
    PFN2P350802, 3MINT-65144 I2D: score=5 
    FEN1P397483, ENSP000003054804I2D: score=1 STRING: ENSP00000305480
    PCNAP120043, ENSP000003684384I2D: score=1 STRING: ENSP00000368438
    RFC2P352503, ENSP000000550774I2D: score=1 STRING: ENSP00000055077
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation TAS9013641
    GO:0000084mitotic S phase TAS9013641
    GO:0000086G2/M transition of mitotic cell cycle TAS9013641
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006200ATP catabolic process IDA18499658

    Find genes that share ontologies with DDX11           About GenesLikeMe



    (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 DDX11

    1 Novoseek inferred chemical compound relationship for DDX11 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitrate 41.5 8 8453665 (3), 11912226 (2), 11487691 (1)



    Find genes that share compounds with DDX11           About GenesLikeMe



    (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 DDX11 gene (6 alternative transcripts): 
    NM_001257144.1  NM_001257145.1  NM_004399.2  NM_030653.3  NM_152438.1  NM_030655.2  

    Unigene Cluster for DDX11:

    DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
    Hs.443960  [show with all ESTs]
    Unigene Representative Sequence: U75968
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000542838(uc010sjx.1) ENST00000542129 ENST00000228264(uc001rjw.1 uc009zjn.1 uc009zjo.1)
    ENST00000438391 ENST00000435753 ENST00000540935 ENST00000539049 ENST00000536265
    ENST00000415475 ENST00000545668 ENST00000350437 ENST00000535158(uc010sjw.1)
    ENST00000543756 ENST00000542244 ENST00000535317 ENST00000544652 ENST00000538345
    ENST00000542242
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate DDX11:
    hsa-miR-302f
    SwitchGear 3'UTR luciferase reporter plasmidDDX11 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): DDX11 (NM_030653)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX11
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDX11
      QuantiTect SYBR Green Assays in human, mouse, rat DDX11
      QuantiFast Probe-based Assays in human, mouse, rat DDX11

    Additional mRNA sequence: 

    AK297607.1 AK303139.1 BC001591.2 BC011264.1 BC012834.2 BC050069.1 BC050522.1 BC111733.1 
    BC148224.1 DQ786287.1 U33833.1 U75967.1 U75968.1 U75969.1 X99583.1 

    Selected DOTS entries (see all 25):

    DT.85104528  DT.91681776  DT.91750700  DT.91750693  DT.100645303  DT.121209508  DT.121209422  DT.100645301 
    DT.91749731  DT.92415338  DT.121209501  DT.75124405  DT.91750701  DT.121209504  DT.91871465  DT.92011811 
    DT.95138041  DT.95329414  DT.97817818  DT.100729357  DT.100846782  DT.121639716  DT.91750699  DT.91823285 

    Selected AceView cDNA sequences (see all 169):

    BC011264 CA446265 BG479641 BU728275 BQ921461 BC001591 BC050069 BC050522 
    CR590809 BQ049975 CA418439 AA505529 BM795044 BU151363 BC047317 CR617012 
    BX352916 BU859051 BV202904 AW002625 AA617784 U75968 BG768874 BE672052 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DDX11 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                  -     -     -     -     -     -     -     -     -         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for DDX11

    (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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    DDX11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATAGAGA
    DDX11 Expression
    About this image


    DDX11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    DDX11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443960

    UniProtKB/Swiss-Prot: DDX11_HUMAN, Q96FC9
    Tissue specificity: Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine, and pancreas.
    Very low expression seen in the brain. Expressed in dividing cells and/or cells undergoing high levels of
    recombination. No expression is seen in cells signaled to terminally differentiate. Expressed in keratinocyte
    growth factor-stimulated cells but not in serum, EGF and IL1-beta-treated keratinocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including DDX11: 
              Prostate Cancer in human mouse rat

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDX11 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddx111 , 5 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like more5
    DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 111
    80.59(n)1
    79.41(a)1
      17 (35.26 cM)5
    3202091  NM_001003919.11  NP_001003919.11 
     661235205 
    chicken
    (Gallus gallus)
    Aves DDX111 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 71.51(n)
    72.18(a)
      418144  XM_416375.4  XP_416375.4 
    lizard
    (Anolis carolinensis)
    Reptilia DDX116
    DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
    60(a)
    1 ↔ 1
    5(11288836-11321695)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ddx111 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 66.82(n)
    66.7(a)
      493192  NM_001170825.1  NP_001164296.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ddx111 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 63.89(n)
    62.73(a)
      492353  NM_001007319.1  NP_001007320.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:33C11.23
    CG114031
    nucleotide-excision repair helicase3
    CG114031
    37(a)3
    51.73(n)1
    43.7(a)1
      310721  NM_130542.41  NP_569898.11 
    worm
    (Caenorhabditis elegans)
    Secernentea M03C11.23
    chl-11
    CHL1 protein3
    chl-11
    31(a)3
    46.46(n)1
    38.76(a)1
      III(10470951-10476893)3
    1764571  NM_066894.41  NP_499295.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHL11 CHL1 45.08(n)
    38.4(a)
      856099   NP_015317.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G798901 AT1G79890 49.35(n)
    42.33(a)
      844328  NM_106638.1  NP_178107.1 


    ENSEMBL Gene Tree for DDX11 (if available)
    TreeFam Gene Tree for DDX11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX11 gene
    RTEL12  BRIP12  RTEL1-TNFRSF6B2  
    7 SIMAP similar genes for DDX11 using alignment to 14 protein entries:     DDX11_HUMAN (see all proteins):
    CHLR1    DDX11L8    DDX12P    DDX11L2    DDX11L3    RTEL1
    DDX11L9

    Find genes that share paralogs with DDX11           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for DDX11 (see all 10)
    PGOHUM00000239287 PGOHUM00000258616 PGOHUM00000258656 PGOHUM00000262875 PGOHUM00000246952


    (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 DDX11 (see all 915)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0690994
    Warsaw breakage syndrome (WBRS)4--see VAR_0690992 R Q mis40--------
    rs114399431,2
    --30993467(+) ACTTA-/ACGTTT 5 -- int10--------
    rs672417141,2
    C--31227176(+) ATTAA-/CAGCAGCC 3 -- int11Minor allele frequency- CAG:0.00CSA 2
    rs573892191,2
    C--31227177(+) ACAGC-/AGCCGCGT 3 -- int11Minor allele frequency- AGC:0.00NA 2
    rs710524581,2
    C--31228235(+) ACTTAA/-CGTTT 3 -- int11Minor allele frequency- -:0.00NA 2
    rs1144346521,2
    F--31228817(+) GTGATT/GTTTTA 5 -- int11Minor allele frequency- G:0.02WA 118
    rs1848869631,2
    --31228822(+) TTTTTA/TAAAGT 5 -- int10--------
    rs1998378721,2
    --31228945(+) GAGGA-/CTCCTTCT 5 -- int10--------
    rs2012125301,2
    C--31229108(+) TTTTAC/TTTGGC 5 -- int10--------
    rs597802551,2
    C--31229181(+) ATAAGG/CAGAAA 5 -- int11Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for DDX11 (31226779 - 31257725 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DDX11 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv7e196CNV Duplication17116639
    esv2422308CNV Duplication17116639
    esv2422283CNV Duplication17116639
    dgv8e196CNV Duplication17116639
    esv2422447CNV Duplication17116639
    nsv509462CNV Insertion20534489
    nsv436723CNV Insertion17901297
    nsv659CNV Loss18451855
    esv2444127CNV Loss19546169
    nsv898954CNV Gain21882294

    Human Gene Mutation Database (HGMD): DDX11
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDX11
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX11

    (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.)
    About This Section

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    OMIM gene information: 601150   
    OMIM disorders: 613398  
    UniProtKB/Swiss-Prot: DDX11_HUMAN, Q96FC9
  • Warsaw breakage syndrome (WBRS) [MIM:613398]: A syndrome characterized by severe microcephaly, pre- and
    postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high
    arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers
    abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister
    chromatid cohesion defects, a feature of Roberts syndrome, coexist. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for DDX11:    
    About MalaCards
    warsaw breakage syndrome    roberts syndrome    baller-gerold syndrome

    3 diseases from the University of Copenhagen DISEASES database for DDX11:
    Baller-Gerold syndrome     Roberts syndrome     Fanconi's anemia

    Find genes that share disorders with DDX11           About GenesLikeMe


    Export disorders for DDX11 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)
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    PubMed articles for DDX11 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with DDX11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1. (PubMed id 18499658)1, 2, 9 Farina A....Hurwitz J. (J. Biol. Chem. 2008)
    2. Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase. (PubMed id 10648783)1, 2, 9 Hirota Y. and Lahti J.M. (Nucleic Acids Res. 2000)
    3. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. (PubMed id 9013641)1, 2, 9 Amann J.... Lahti J.M. (J. Biol. Chem. 1997)
    4. The human homologue of the yeast CHL1 gene is a novel keratinocyte growth factor regulated gene. (PubMed id 8798685)1, 2, 9 Frank S. and Werner S. (J. Biol. Chem. 1996)
    5. Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome. (PubMed id 23033317)1, 2 Capo-Chichi J.M.... Kibar Z. (Hum. Mutat. 2013)
    6. The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells. (PubMed id 17105772)1, 2 Parish J.L.... Androphy E.J. (J. Cell Sci. 2006)
    7. ChlR1 is required for loading papillomavirus E2 onto mitotic chromosomes and viral genome maintenance. (PubMed id 17189189)1, 2 Parish J.L.... Androphy E.J. (Mol. Cell 2006)
    8. 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. (Genome Res. 2004)
    9. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. (PubMed id 20137776)2, 9 van der Lelij P.... de Winter J.P. (Am. J. Hum. Genet. 2010)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (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: 1663 HGNC: 2736 AceView: DDX11 Ensembl:ENSG00000013573 euGenes: HUgn1663
    ECgene: DDX11 H-InvDB: DDX11

    (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 DDX11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDX11 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDX11 gene:
    Search GeneIP for patents involving DDX11

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



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