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

DDX11 Gene

protein-coding   GIFtS: 61
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...)
 Explore 12 diseases affiliated with
DDX11 via our new
 Human Malady Compendium 
Biological research products
for DDX11
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 111 2     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 111
CHLR11 2 3 5     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 (S.Cerevisiae CHL1-Like
Helicase)1
KRG21 2 3 5     CHL1-Like Helicase Homolog2
CHL11 2 3     CHL1-Related Helicase Gene-12
WABS1 2     DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 (CHL1-Like Helicase Homolog, S.
Cerevisiae)2
Keratinocyte Growth Factor-Regulated Gene 2 Protein2 3     Probable ATP-Dependent RNA Helicase DDX112
KRG-22 3     EC 3.6.4.133
CHL1-Related Protein 12 3     EC 3.6.18
DEAD/H Box Protein 112 3     EC 3.6.1.238
HCHLR11     EC 3.6.1.78
ChlR11     

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

Entrez Gene summary for DDX11:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DDX11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96FC9

  • 4/27 DME Specific Peptides for DDX11 (Q96FC9) (see all 27)
     SRTHSQL  YGKRLKA  EAGKIGI  VGGKMSE 

    DDX11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000445219   ENSP00000443750  
     ENSP00000441015   ENSP00000384703   ENSP00000251758  
    Reactome Protein details: Q96FC9
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    Novus Biologicals DDX11 Proteins
    Novus Biologicals DDX11 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DDX11

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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:0005730nucleolus IEA--


    DDX11 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DDX11


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

    DDX11 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR010614 DEAD_2
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR027076 DDX11/CHL1
     IPR013020 DNA_helicase_DNA-repair_Rad3
     IPR006554 Helicase-like_DEXD_c2

    Graphical View of Domain Structure for InterPro Entry Q96FC9

    ProtoNet protein and cluster: Q96FC9

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    hsa-miR-302f
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    Inhib. RNA
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003678DNA helicase activity TAS9013641
    GO:0003723RNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0004386helicase activity IDA18499658


    DDX11 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ddx11tm1Jiml for DDX11
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ddx11):
     cardiovascular system  cellular  embryogenesis  growth/size  mortality/aging 
     nervous system 

    DDX11 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperone Genes by XBP1(S)1.00
    Unfolded Protein Response0.71
    Activation of Chaperones by IRE1alpha0.94
    2Expression of DDX11
    Expression of DDX111.00
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for DDX11
        Activation of Chaperone Genes by XBP1(S)
    Expression of DDX11
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response



    DDX11 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DDX11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for DDX11 (Q96FC92, 3 ENSP000003847034) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation TAS9013641
    GO:0000084S phase of mitotic cell cycle TAS9013641
    GO:0000086G2/M transition of mitotic cell cycle TAS9013641
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007062sister chromatid cohesion IDA17105772


    DDX11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DDX11 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DDX11
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DDX11 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/32 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

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    Inhib. RNA
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    Additional cDNA 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 

    24/25 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 

    24/169 AceView cDNA sequences (see all 169):

    BU151363 BM795044 BC047317 CR617012 BX352916 BU859051 AA505529 BG479641 
    BU728275 BQ921461 BC050069 BC001591 CR590809 BC050522 BQ049975 CA418439 
    BC011264 CA446265 BV202904 NM_030653 BQ053959 BX331255 BE138729 AA653212 

    GeneLoc Exon Structure

    5/10 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™, 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

    DDX11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTATAGAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DDX11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDX11

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDX11 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDX111 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 71.51(n)
    72.52(a)
      418144  XM_416375.3  XP_416375.3 
    lizard
    (Anolis carolinensis)
    Reptilia DDX116
    --
    60(a)
    1 ↔ 1
    5(11291524-11321675)
    zebrafish
    (Danio rerio)
    Actinopterygii ddx111 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 63.97(n)
    62.62(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
    52.06(n)1
    43.83(a)1
      310721  NM_130542.31  NP_569898.11 
    worm
    (Caenorhabditis elegans)
    Secernentea M03C11.23
    chl-11
    CHL1 protein3
    Protein CHL-11
    31(a)3
    46.66(n)1
    38.5(a)1
      III(10470951-10476893)3
    1764571  NM_066894.31  NP_499295.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHL11 Chl1p 45.09(n)
    37.5(a)
      856099   NP_015317.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G798901 chromosome transmission fidelity protein 1 49.47(n)
    43.07(a)
      844328  NM_106638.1  NP_178107.1 
    rice
    (Oryza sativa)
    Liliopsida --
    helicase, putative, expressed
    32(a)
    1 ↔ 1
    5(7367109-7374425)


    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)
    About This Section
    Paralogs for DDX11 gene
    RTEL12  BRIP12  RTEL1-TNFRSF6B2  
    6 SIMAP similar genes for DDX11 using alignment to 13 protein entries:     DDX11_HUMAN (see all proteins):
    CHLR1    DDX11L8    DDX12P    DDX11L2    DDX11L3    DDX11L9

    DDX11 for paralogs           About GeneDecksing


    5/10 Pseudogenes.org Pseudogenes for DDX11 (see all 10)
    PGOHUM00000239287 PGOHUM00000258616 PGOHUM00000258656 PGOHUM00000262875 PGOHUM00000246952


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/822 NCBI SNPs in DDX11 are shown (see all 822    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114399431,2
    --30993467(+) ACTTA-/ACGTTT 1 -- int10--------
    rs49309501,2
    C,H,--31224851(+) GCACTC/GTGTAT 6 -- int1 us2k12Minor allele frequency- G:0.00NA 4
    rs1507205461,2
    --31224886(+) AGAACC/GTTTGT 6 -- int1 us2k10--------
    rs1395074751,2
    --31225002(+) CCAATC/GGACAC 6 -- us2k1 int10--------
    rs64879621,2
    C,F,A,H--31225009(+) ACACTC/GTGTAT 6 -- int1 us2k15Minor allele frequency- G:0.27NA CSA 11
    rs64879631,2
    C,F,A,H,--31225099(+) AACGGA/CTCAAT 6 -- us2k1 int15Minor allele frequency- C:0.27NA CSA 11
    rs178637001,2
    H--31225108(-) agggcG/Actgat 6 -- us2k1 int11Minor allele frequency- A:0.00NS 120
    rs1475011961,2
    --31225168(+) TGGGTG/TGGGCC 6 -- int1 us2k10--------
    rs1877568891,2
    --31225198(+) GGCTGC/TCCTAA 6 -- int1 us2k10--------
    rs64879641,2
    C,F,A,H,--31225205(+) CTAAGA/CCAGCA 6 -- int1 us2k16Minor allele frequency- C:0.42NA WA 132

    HapMap Linkage Disequilibrium report for DDX11 (31226779 - 31257725 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 26 variations for DDX11
         15/26 CNVs (see all 26): 2976 5282 8715 8712 71485 86296 3884 5283 34567 5284 5291 8717 5286 5281 34528
    Human Gene Mutation Database (HGMD): DDX11

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DDX11 for disorders           About GeneDecksing

    OMIM gene information: 601150   
    OMIM disorders: 613398  
    UniProtKB/Swiss-Prot: DDX11_HUMAN, Q96FC9
  • Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS) [MIM:613398]. It is 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

    12 diseases for DDX11:    About MalaCards
    cornelia de lange syndrome    warsaw breakage syndrome    roberts syndrome    esophageal squamous cell carcinoma
    squamous cell carcinoma    fanconi's anemia    coloboma    microcephaly
    anemia    esophagitis    carcinoma    malaria

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

    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)
    About This Section

    PubMed articles for DDX11 gene, integrated from 9 sources (see all 35):
    (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. (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. (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. (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. (1996)
    5. The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells. (PubMed id 17105772)1, 2 Parish J.L....Androphy E.J. (2006)
    6. 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. (2006)
    7. 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)
    8. 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. (2010)
    9. Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome. (PubMed id 23033317)2 Capo-Chichi J.M.... Kibar Z. (2013)
    10. Biochemical characterization of Warsaw breakage syndro me helicase. (PubMed id 22102414)1 Wu Y....Brosh R.M. (2012)

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

    (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 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.)
    About This Section
    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



    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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     Regulatory tfbs in DDX11 promoter
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