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Aliases for DDX11 Gene

Aliases for DDX11 Gene

  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 11 2 3
  • CHLR1 3 4 6
  • KRG2 3 4 6
  • Keratinocyte Growth Factor-Regulated Gene 2 Protein 3 4
  • CHL1-Related Protein 1 3 4
  • DEAD/H Box Protein 11 3 4
  • HCHLR1 3 4
  • KRG-2 3 4
  • CHL1 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 (CHL1-Like Helicase Homolog, S. Cerevisiae) 3
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 (S.Cerevisiae CHL1-Like Helicase) 2
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 2
  • CHL1-Like Helicase Homolog (S. Cerevisiae) 2
  • Probable ATP-Dependent RNA Helicase DDX11 3
  • CHL1-Related Helicase Gene-1 3
  • CHL1-Like Helicase Homolog 3
  • EC 3.6.1.23 63
  • EC 3.6.4.13 4
  • EC 3.6.1.7 63
  • EC 3.6.1 63
  • WABS 3

External Ids for DDX11 Gene

Previous GeneCards Identifiers for DDX11 Gene

  • GC12P031609
  • GC12P031250
  • GC12P031127
  • GC12P031118
  • GC12P030992
  • GC12P031226

Summaries for DDX11 Gene

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. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include RNA binding and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is BRIP1.

UniProtKB/Swiss-Prot for DDX11 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX11 Gene

Genomics for DDX11 Gene

Regulatory Elements for DDX11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DDX11 Gene

Start:
31,073,845 bp from pter
End:
31,104,799 bp from pter
Size:
30,955 bases
Orientation:
Plus strand

Genomic View for DDX11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DDX11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX11 Gene

Proteins for DDX11 Gene

  • Protein details for DDX11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FC9-DDX11_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX11
    Protein Accession:
    Q96FC9
    Secondary Accessions:
    • Q13333
    • Q86VQ4
    • Q86W62
    • Q92498
    • Q92770
    • Q92998
    • Q92999

    Protein attributes for DDX11 Gene

    Size:
    970 amino acids
    Molecular mass:
    108313 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA67895.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA67895.1; Type=Frameshift; Positions=644, 648; Evidence={ECO:0000305};

    Alternative splice isoforms for DDX11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX11 Gene

Proteomics data for DDX11 Gene at MOPED

Post-translational modifications for DDX11 Gene

  • Ubiquitination at Lys38, Lys273, Lys526, Lys611, Lys811, Lys830, and Lys839
  • Modification sites at PhosphoSitePlus

Domains for DDX11 Gene

Gene Families for DDX11 Gene

HGNC:
  • DDX :DEAD-boxes

Graphical View of Domain Structure for InterPro Entry

Q96FC9

UniProtKB/Swiss-Prot:

DDX11_HUMAN :
  • Q96FC9
Domain:
  • Contains 1 helicase ATP-binding domain.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily.
genes like me logo Genes that share domains with DDX11: view

Function for DDX11 Gene

Molecular function for DDX11 Gene

GENATLAS Biochemistry: DEAD/H box protein 11,yeast Chl1 related-helicase gene 1,putative regulator of chromosome segregation and transmission
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DDX11 Gene

Gene Ontology (GO) - Molecular Function for DDX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding --
GO:0003690 double-stranded DNA binding IDA 9013641
GO:0003697 single-stranded DNA binding IDA 9013641
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with DDX11: view
genes like me logo Genes that share phenotypes with DDX11: view

Animal Models for DDX11 Gene

MGI Knock Outs for DDX11:

Animal Model Products

CRISPR Products

miRNA for DDX11 Gene

miRTarBase miRNAs that target DDX11

No data available for Transcription Factor Targeting and HOMER Transcription for DDX11 Gene

Localization for DDX11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX11 Gene

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
Jensen Localization Image for DDX11 Gene COMPARTMENTS Subcellular localization image for DDX11 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DDX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 17105772
GO:0000922 spindle pole IDA 17105772
GO:0005634 colocalizes_with nucleus IDA 17189189
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with DDX11: view

Pathways for DDX11 Gene

genes like me logo Genes that share pathways with DDX11: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for DDX11 Gene

Gene Ontology (GO) - Biological Process for DDX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0006987 activation of signaling protein activity involved in unfolded protein response --
GO:0007062 sister chromatid cohesion IDA 17105772
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with DDX11: view

Compounds for DDX11 Gene

(1) Novoseek inferred chemical compound relationships for DDX11 Gene

Compound -log(P) Hits PubMed IDs
nitrate 41.5 6
genes like me logo Genes that share compounds with DDX11: view

Transcripts for DDX11 Gene

Unigene Clusters for DDX11 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDX11

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DDX11

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX11 Gene

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:
SP6: - - - -
SP7:
SP8: - - -
SP9: - - - -
SP10: -

ExUns: 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DDX11 Gene

GeneLoc Exon Structure for
DDX11
ECgene alternative splicing isoforms for
DDX11

Expression for DDX11 Gene

mRNA expression in normal human tissues for DDX11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for DDX11 Gene

SOURCE GeneReport for Unigene cluster for DDX11 Gene Hs.443960

mRNA Expression by UniProt/SwissProt for DDX11 Gene

Q96FC9-DDX11_HUMAN
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.
genes like me logo Genes that share expressions with DDX11: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DDX11 Gene

Orthologs for DDX11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX11 35
  • 98.71 (n)
  • 98.68 (a)
DDX11 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDX11 36
  • 70 (a)
OneToOne
LOC506293 35
  • 80.9 (n)
  • 78.42 (a)
dog
(Canis familiaris)
Mammalia DDX11 35
  • 84.95 (n)
  • 83.77 (a)
DDX11 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx11 35
  • 80.59 (n)
  • 79.41 (a)
Ddx11 16
Ddx11 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDX11 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDX11 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddx11 35
  • 81.93 (n)
  • 80.69 (a)
chicken
(Gallus gallus)
Aves DDX11 35
  • 71.51 (n)
  • 72.18 (a)
DDX11 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDX11 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx11 35
  • 66.82 (n)
  • 66.7 (a)
zebrafish
(Danio rerio)
Actinopterygii ddx11 35
  • 63.89 (n)
  • 62.73 (a)
ddx11 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001537 35
  • 49.36 (n)
  • 41.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11403 35
  • 51.73 (n)
  • 43.7 (a)
CG11403 36
  • 32 (a)
OneToOne
EG:33C11.2 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea chl-1 35
  • 46.46 (n)
  • 38.76 (a)
chl-1 36
  • 32 (a)
OneToOne
M03C11.2 37
  • 31 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL010W 35
  • 45.93 (n)
  • 36.89 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 35
  • 45.08 (n)
  • 38.4 (a)
CHL1 36
  • 29 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27181g 35
  • 46.73 (n)
  • 38.71 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79890 35
  • 49.35 (n)
  • 42.33 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11409 35
  • 50.74 (n)
  • 43.31 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes chl1 35
  • 46.1 (n)
  • 39.43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for DDX11:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDX11 Gene

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

Paralogs for DDX11 Gene

Paralogs for DDX11 Gene

genes like me logo Genes that share paralogs with DDX11: view

Variants for DDX11 Gene

Sequence variations from dbSNP and Humsavar for DDX11 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1757 -- 31,104,712(+) ACGGG(A/G)GCAGG utr-variant-3-prime, nc-transcript-variant
rs9750 -- 31,104,530(+) GGGCC(A/G)TTAGG utr-variant-3-prime, nc-transcript-variant
rs11219 -- 31,104,761(+) AGCTA(C/T)AGGTC utr-variant-3-prime, nc-transcript-variant
rs14330 - 31,104,018(+) AAATG(C/G)GGGAA missense, reference, utr-variant-3-prime, downstream-variant-500B, nc-transcript-variant
rs1046456 -- 31,101,061(+) CCCCT(C/T)GTCAT reference, synonymous-codon, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for DDX11 Gene

Variant ID Type Subtype PubMed ID
esv2422447 CNV Duplication 17116639
dgv7e196 CNV Duplication 17116639
dgv489e1 CNV Complex 17122850
nsv428276 CNV Gain 18775914
esv2751043 CNV Gain 17911159
dgv61e55 CNV Gain 17911159
esv2751046 CNV Gain 17911159
dgv192n27 CNV Gain 19166990
nsv515974 CNV Gain+Loss 19592680
nsv659 CNV Loss 18451855
dgv17n64 CNV Gain 17921354
nsv832363 CNV Gain 17160897
dgv8e196 CNV Duplication 17116639
esv2422283 CNV Duplication 17116639
esv22975 CNV Gain 19812545
dgv62e55 CNV Gain 17911159
dgv63e55 CNV Gain 17911159
dgv490e1 CNV Complex 17122850
esv2422308 CNV Duplication 17116639
nsv436723 CNV Insertion 17901297
esv2444127 CNV Loss 19546169
nsv898954 CNV Gain 21882294
dgv1400n71 CNV Gain 21882294
nsv509462 CNV Insertion 20534489

Relevant External Links for DDX11 Gene

HapMap Linkage Disequilibrium report
DDX11
Human Gene Mutation Database (HGMD)
DDX11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX11 Gene

Disorders for DDX11 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for DDX11 Gene including...

Search for DDX11 Gene in MalaCards »

(1) OMIM Diseases for DDX11 Gene (601150)

UniProtKB/Swiss-Prot

DDX11_HUMAN
  • 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. {ECO:0000269 PubMed:20137776, ECO:0000269 PubMed:23033317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for DDX11 Gene

genes like me logo Genes that share disorders with DDX11: view

Publications for DDX11 Gene

  1. The human homologue of the yeast CHL1 gene is a novel keratinocyte growth factor regulated gene. (PMID: 8798685) Frank S. … Werner S. (J. Biol. Chem. 1996) 3 4 23
  2. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. (PMID: 9013641) Amann J. … Lahti J.M. (J. Biol. Chem. 1997) 3 4 23
  3. Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase. (PMID: 10648783) Hirota Y. … Lahti J.M. (Nucleic Acids Res. 2000) 3 4 23
  4. Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1. (PMID: 18499658) Farina A. … Hurwitz J. (J. Biol. Chem. 2008) 3 4 23
  5. The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells. (PMID: 17105772) Parish J.L. … Androphy E.J. (J. Cell Sci. 2006) 3 4

Products for DDX11 Gene

Sources for DDX11 Gene

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