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Aliases for DDX11 Gene

Aliases for DDX11 Gene

  • DEAD/H-Box Helicase 11 2 3 5
  • Keratinocyte Growth Factor-Regulated Gene 2 Protein 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 11 2 3
  • CHL1-Related Protein 1 3 4
  • HCHLR1 3 4
  • CHLR1 3 4
  • KRG-2 3 4
  • CHL1 3 4
  • KRG2 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 DNA Helicase DDX11 3
  • Probable ATP-Dependent RNA Helicase DDX11 3
  • ATP-Dependent DNA Helicase DDX11 3
  • CHL1-Related Helicase Gene-1 3
  • CHL1-Like Helicase Homolog 3
  • DEAD/H Box Protein 11 3
  • DEAD/H-Box Protein 11 4
  • EC 3.6.1.23 61
  • EC 3.6.4.12 4
  • EC 3.6.1.7 61
  • EC 3.6.1 61
  • 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-Box Helicase 11) is a Protein Coding gene. Diseases associated with DDX11 include Warsaw Breakage Syndrome and Baller-Gerold Syndrome. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). GO annotations related to this gene include nucleic acid binding and double-stranded DNA binding. An important paralog of this gene is RTEL1-TNFRSF6B.

UniProtKB/Swiss-Prot for DDX11 Gene

  • DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5 to 3 direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414).

  • (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segragated.

Gene Wiki entry for DDX11 Gene

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

Genomics for DDX11 Gene

Regulatory Elements for DDX11 Gene

Enhancers for DDX11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G031072 1.1 ENCODE 141.9 +0.3 292 2.3 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 DDX11 ENSG00000212533 GC12M031076 DDX11-AS1
GH12G031079 0.5 ENCODE 111.1 +6.6 6606 1.4 OSR2 MAZ SCRT2 GFI1B SP7 DDX11 GC12M031076 ENSG00000212533 PIR40477
GH12G031103 0.8 ENCODE 63.7 +30.4 30396 1.0 SIX4 SOX13 KLF1 SAP130 NFIB ZNF195 HIC1 ZFHX2 ZNF600 PRDM10 DDX11 DDX11-AS1 IPO8 ENSG00000270926 PIR40477
GH12G031028 0.8 ENCODE dbSUPER 34 -43.9 -43862 2.7 ZNF366 SMARCA4 RNF2 ZBTB8A PRDM1 ATF2 DDX11 ENSG00000256984
GH12G031205 1.2 Ensembl ENCODE dbSUPER 16.6 +132.4 132394 1.7 ZBTB11 TRIM22 ZNF140 ZNF426 ZNF394 RBBP5 ZNF781 ZNF518A RELA ZNF664 DDX11 BICD1 IPO8 LINC00941 OVOS2 LOC101060058
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDX11 on UCSC Golden Path with GeneCards custom track

Promoters for DDX11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000050539 319 1401 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for DDX11 Gene

Chromosome:
12
Start:
31,073,581 bp from pter
End:
31,104,799 bp from pter
Size:
31,219 bases
Orientation:
Plus strand

Genomic View for DDX11 Gene

Genes around DDX11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    ATP-dependent DNA 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;
    Quaternary structure:
    • Associates with the CTF18-RFC complex (PubMed:18499658). Associates with a cohesin complex composed of RAD21, SMC1 proteins and SMC3 (PubMed:17105772). Interacts with CHTF18 (PubMed:18499658). Interacts with DSCC1 (PubMed:18499658). Interacts with FEN1; this interaction is direct and increases flap endonuclease activity of FEN1 (PubMed:18499658). Interacts with PCNA (PubMed:18499658). Interacts with POLR1A and UBTF (PubMed:26089203). Interacts with RAD21, SMC1 proteins and SMC3 (PubMed:17105772). Interacts with RFC2 (PubMed:18499658). Interacts with TIMELESS; this interaction increases recruitment of both proteins onto chromatin in response to replication stress induction by hydroxyurea (PubMed:20124417, PubMed:26503245).
    • (Microbial infection) Interacts with bovine papillomavirus type 1 regulatory protein E2; this interaction stimulates the recruitment of E2 onto mitotic chromosomes.
    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

Selected DME Specific Peptides for DDX11 Gene

Q96FC9:
  • INDFLFQSQ
  • SRTHSQL
  • RKKIFQEPK
  • DNINLFKVQRY
  • VGGKMSE
  • VGMPFPN
  • MLLHAATRQAAGIRLQ
  • LPYQMLL
  • FLAALTTANQDGRVI
  • SEGINFSD
  • PFPNIRSA
  • EAGKIGI
  • KRLKAKNLMY
  • SCGHVIP
  • AGGTMQP
  • LGRCVVMVGMP
  • YGKRLKA
  • RLVSLGSRQ
  • KQILYLLEKFVAVLGGN
  • TQSLSQTG
  • AQLVVLP
  • IDEAHNL
  • LVLAEYESDEE
  • SRKLFGFTE
  • FVQKKEERDLV
  • ESPTGTGK
  • CPFYNHEQM

Post-translational modifications for DDX11 Gene

  • Ubiquitination at Lys273
  • Modification sites at PhosphoSitePlus

Domains & Families for DDX11 Gene

Gene Families for DDX11 Gene

Graphical View of Domain Structure for InterPro Entry

Q96FC9

UniProtKB/Swiss-Prot:

DDX11_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily.
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:
ATPase activity is stimulated by high magnesium salt levels (up to a 0.1 M), and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts (PubMed:10648783, PubMed:18499658). ATPase activity is enhanced by the long non-coding RNA (lncRNA) cohesion regulator noncoding RNA (CONCR) (PubMed:27477908). Double-stranded DNA helicase activity is maximal with magnesium ions at low concentrations (0.5-1 mM) whereas is markedly inhibited at higher levels (5 mM and above) (PubMed:10648783, PubMed:18499658). Double-stranded DNA helicase activity is stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate (PubMed:18499658).
UniProtKB/Swiss-Prot Function:
DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5 to 3 direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segragated.
UniProtKB/Swiss-Prot Induction:
Up-regulated by serum (at protein level) (PubMed:26089203). Up-regulated by fibroblast growth factor FGF7 (PubMed:8798685). Expressed in keratinocyte growth factor-stimulated cells but not in EGF and IL1-beta-treated keratinocytes (PubMed:8798685). Up-regulated with progression from noninvasive to invasive melanoma (PubMed:23116066).

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 IEA --
GO:0003677 DNA binding IDA 26503245
GO:0003682 chromatin binding IMP 20124417
GO:0003688 DNA replication origin binding IMP 27477908
GO:0003690 double-stranded DNA binding IDA 9013641
genes like me logo Genes that share ontologies with DDX11: view
genes like me logo Genes that share phenotypes with DDX11: view

Human Phenotype Ontology for DDX11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDX11 Gene

MGI Knock Outs for DDX11:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for DDX11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX11 Gene

Nucleus. Nucleus, nucleolus. Cytoplasm, cytoskeleton, spindle pole. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. 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) (PubMed:17105772). In interphase, colocalizes with nucleolin in the nucleolus (PubMed:26089203). {ECO:0000269 PubMed:17105772, ECO:0000269 PubMed:26089203}.
Chromosome. Note=(Microbial infection) Colocalizes with bovine papillomavirus type 1 regulatory protein E2 on mitotic chromosomes at early stages of mitosis. {ECO:0000269 PubMed:17189189}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDX11 gene
Compartment Confidence
extracellular 5
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,IEA 17105772
GO:0001650 fibrillar center IDA --
GO:0005634 colocalizes_with nucleus IDA 17189189
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with DDX11: view

Pathways & Interactions for DDX11 Gene

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

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:0006260 DNA replication IEA --
GO:0006281 DNA repair IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DDX11: view

No data available for SIGNOR curated interactions for DDX11 Gene

Drugs & Compounds for DDX11 Gene

(3) Drugs for DDX11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for DDX11 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DDX11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX11 Gene



NURSA nuclear receptor signaling pathways regulating expression of DDX11 Gene:

DDX11

SOURCE GeneReport for Unigene cluster for DDX11 Gene:

Hs.443960

mRNA Expression by UniProt/SwissProt for DDX11 Gene:

Q96FC9-DDX11_HUMAN
Tissue specificity: Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level) (PubMed:23116066). Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine and pancreas (PubMed:9013641). Very low expression seen in brain (PubMed:9013641). Expressed in dividing cells and/or cells undergoing high levels of recombination (PubMed:9013641). No expression detected in cells signaled to terminally differentiate (PubMed:9013641). Expressed weakly in keratinocytes (PubMed:8798685).

Evidence on tissue expression from TISSUES for DDX11 Gene

  • Skin(4)
  • Nervous system(3.6)
  • Lung(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
Thorax:
  • heart
  • lung
Limb:
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DDX11: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners 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 34 35
  • 98.71 (n)
dog
(Canis familiaris)
Mammalia DDX11 34 35
  • 84.95 (n)
rat
(Rattus norvegicus)
Mammalia Ddx11 34
  • 81.93 (n)
cow
(Bos Taurus)
Mammalia LOC506293 34
  • 80.9 (n)
DDX11 35
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx11 34 16 35
  • 80.59 (n)
oppossum
(Monodelphis domestica)
Mammalia DDX11 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDX11 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDX11 34 35
  • 71.51 (n)
lizard
(Anolis carolinensis)
Reptilia DDX11 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx11 34
  • 66.82 (n)
zebrafish
(Danio rerio)
Actinopterygii ddx11 34 35
  • 63.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11403 34 35
  • 51.73 (n)
EG:33C11.2 36
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001537 34
  • 49.36 (n)
worm
(Caenorhabditis elegans)
Secernentea chl-1 34 35
  • 46.46 (n)
M03C11.2 36
  • 31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27181g 34
  • 46.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL010W 34
  • 45.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 34 35
  • 45.08 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79890 34
  • 49.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11409 34
  • 50.74 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes chl1 34
  • 46.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for DDX11 was found in the sources mined by GeneCards:
  • 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

Variants for DDX11 Gene

Sequence variations from dbSNP and Humsavar for DDX11 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs201968272 Pathogenic, Warsaw breakage syndrome (WBRS) [MIM:613398] 31,089,147(+) CTCCC(A/G)GCAGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs148856317 Pathogenic 31,097,884(+) TTCCA(C/G)GCAGC splice-acceptor-variant
rs730880279 Pathogenic 31,102,313(+) CCAGG(C/T)GCGGG intron-variant, splice-donor-variant
rs730880280 Pathogenic 31,103,729(+) TGCAG(-/AAG)GTCAG nc-transcript-variant, downstream-variant-500B, cds-indel
rs779058797 Likely pathogenic 31,101,026(+) TACCA(A/G)GTCAC nc-transcript-variant, downstream-variant-500B, reference, missense, splice-acceptor-variant

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

Variant ID Type Subtype PubMed ID
dgv1417n100 CNV gain 25217958
dgv17n64 CNV gain 17921354
dgv192n27 CNV gain 19166990
dgv2463n54 CNV gain 21841781
dgv2464n54 CNV gain 21841781
dgv26e203 CNV gain 21179565
dgv61e55 CNV gain 17911159
dgv62e55 CNV gain 17911159
dgv63e55 CNV gain 17911159
dgv7e196 CNV duplication 17116639
dgv8e196 CNV duplication 17116639
esv22975 CNV gain 19812545
esv2422283 CNV duplication 17116639
esv2422308 CNV duplication 17116639
esv2422447 CNV duplication 17116639
esv2444127 CNV loss 19546169
esv2751043 CNV gain 17911159
esv2751046 CNV gain 17911159
esv2759890 CNV gain+loss 17122850
esv3581161 CNV gain 25503493
nsv1038745 CNV gain 25217958
nsv1045497 CNV gain 25217958
nsv428276 CNV gain 18775914
nsv436723 CNV insertion 17901297
nsv509462 CNV insertion 20534489
nsv515974 CNV gain+loss 19592680
nsv558030 CNV gain 21841781
nsv659 CNV deletion 18451855
nsv832363 CNV gain 17160897
nsv975469 CNV duplication 23825009
nsv975470 CNV duplication 23825009
nsv983300 CNV duplication 23825009
nsv983381 CNV duplication 23825009

Variation tolerance for DDX11 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.45; 85.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDX11 Gene

Human Gene Mutation Database (HGMD)
DDX11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX11

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

Disorders for DDX11 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DDX11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
warsaw breakage syndrome
  • wabs
baller-gerold syndrome
  • bgs
roberts syndrome
  • sc phocomelia syndrome
3p- syndrome
  • chromosome 3pter-p25 deletion syndrome
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search DDX11 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:26089203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DDX11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDX11
genes like me logo Genes that share disorders with DDX11: view

No data available for Genatlas for DDX11 Gene

Publications for DDX11 Gene

  1. 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 22 64
  2. 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 22 64
  3. 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 22 64
  4. 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 22 64
  5. A Long Noncoding RNA Regulates Sister Chromatid Cohesion. (PMID: 27477908) Marchese F.P. … Huarte M. (Mol. Cell 2016) 3 4 64

Products for DDX11 Gene

Sources for DDX11 Gene

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