DDX11 Gene (Protein Coding)

DEAD/H-Box Helicase 11

GC12P031073
GIFtS:
45
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 fami... See more...

Aliases for DDX11 Gene

Aliases for DDX11 Gene

  • DEAD/H-Box Helicase 11 2 3 5
  • CHLR1 2 3 4
  • CHL1 2 3 4
  • KRG2 2 3 4
  • Keratinocyte Growth Factor-Regulated Gene 2 Protein 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 11 2 3
  • ATP-Dependent DNA Helicase DDX11 3 4
  • CHL1-Related Protein 1 3 4
  • HCHLR1 3 4
  • KRG-2 3 4
  • WABS 2 3
  • 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
  • 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 51
  • EC 3.6.4.12 4
  • EC 3.6.1.7 51
  • EC 3.6.1 51
  • DDX11 5
  • ChlR1 2

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 Warsaw Syndrome. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and double-stranded DNA binding. An important paralog of this gene is BRIP1.

UniProtKB/Swiss-Prot Summary 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 segregated.

Gene Wiki entry for DDX11 Gene

Additional gene information for DDX11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX11 Gene

Genomics for DDX11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DDX11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX11

Top Transcription factor binding sites by QIAGEN in the DDX11 gene promoter:
  • AP-1
  • Bach1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB

Genomic Locations for DDX11 Gene

Latest Assembly
chr12:31,073,860-31,104,799
(GRCh38/hg38)
Size:
30,940 bases
Orientation:
Plus strand

Previous Assembly
chr12:31,226,794-31,257,733
(GRCh37/hg19 by Entrez Gene)
Size:
30,940 bases
Orientation:
Plus strand

chr12:31,226,779-31,257,725
(GRCh37/hg19 by Ensembl)
Size:
30,947 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 Structure • Gene Density

RefSeq DNA sequence for DDX11 Gene

Proteins for DDX11 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA67895.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DDX11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX11 Gene

Protein Expression for DDX11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for DDX11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DDX11 Gene

Gene Families for DDX11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DDX11 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
ProtoNet:

Suggested Antigen Peptide Sequences for DDX11 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60129, highly similar to Probable ATP-dependent RNA helicase DDX11 (EC 3.6.1.-) (B4DMS8_HUMAN)
  • Keratinocyte growth factor-regulated gene 2 protein (DDX11_HUMAN)
  • DDX11 protein (Q2NKM7_HUMAN)
  • Helicase (Q7KYX3_HUMAN)
  • CHL1 protein (Q93000_HUMAN)

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

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DDX11 Gene

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 segregated.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence={ECO:0000269|PubMed:10648783, ECO:0000269|PubMed:18499658, ECO:0000269|PubMed:22102414, ECO:0000269|PubMed:26089203, ECO:0000269|PubMed:27477908};.
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).
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).
GENATLAS Biochemistry:
DEAD/H box protein 11,yeast Chl1 related-helicase gene 1,putative regulator of chromosome segregation and transmission

Enzyme Numbers (IUBMB) for DDX11 Gene

Phenotypes From GWAS Catalog for DDX11 Gene

Gene Ontology (GO) - Molecular Function for DDX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA 26503245
GO:0003678 DNA helicase activity IEA,IDA 18499658
GO:0003682 chromatin binding IMP 20124417
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX11

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
cytoskeleton 5
nucleus 5
extracellular 4
plasma membrane 3
mitochondrion 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 17105772
GO:0000922 spindle pole IEA,IDA 17105772
GO:0001650 fibrillar center IDA --
GO:0005634 colocalizes_with nucleus IEA,IDA 17189189
GO:0005654 nucleoplasm IDA,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

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:0006974 cellular response to DNA damage stimulus IMP 23797032
GO:0007062 sister chromatid cohesion IDA 17105772
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

Products:

  1. Drug products for research

(4) Drugs for DDX11 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for DDX11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
genes like me logo Genes that share compounds with DDX11: view

Transcripts for DDX11 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for DDX11 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX11

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

Expression for DDX11 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX11 Gene

mRNA expression in normal human tissues for DDX11 Gene
mRNA expression by GTEx for DDX11 GenemRNA expression by BioGPS 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Nervous system(3.9)
  • 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
Regions:
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 for research

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 30 31
  • 98.71 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DDX11 30 31
  • 84.95 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ddx11 30
  • 81.93 (n)
Cow
(Bos Taurus)
 Mammalia LOC506293 30
  • 80.9 (n)
DDX11 31
  • 70 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ddx11 30 17 31
  • 80.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DDX11 31
  • 67 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DDX11 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DDX11 30 31
  • 71.51 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DDX11 31
  • 60 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ddx11 30
  • 66.82 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ddx11 30 31
  • 63.89 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG11403 30 31
  • 51.73 (n)
 OneToOne
EG:33C11.2 32
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001537 30
  • 49.36 (n)
Worm
(Caenorhabditis elegans)
 Secernentea chl-1 30 31
  • 46.46 (n)
 OneToOne
M03C11.2 32
  • 31 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F27181g 30
  • 46.73 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGL010W 30
  • 45.93 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CHL1 30 31
  • 45.08 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G79890 30
  • 49.35 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU11409 30
  • 50.74 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes chl1 30
  • 46.1 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DDX11: view image

Paralogs for DDX11 Gene

Paralogs for DDX11 Gene

(7) SIMAP similar genes for DDX11 Gene using alignment to 14 proteins:

  • DDX11_HUMAN
  • B4DMS8_HUMAN
  • C9K0E8_HUMAN
  • F5GXJ8_HUMAN
  • F5GXL6_HUMAN
  • F5GYY1_HUMAN
  • F5H235_HUMAN
  • F5H2V9_HUMAN
  • F6WZM0_HUMAN
  • H0YFY8_HUMAN
  • H0YGL4_HUMAN
  • H0YGX9_HUMAN
  • Q2NKM7_HUMAN
  • R4GNE1_HUMAN

Pseudogenes.org Pseudogenes for DDX11 Gene

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

Variants for DDX11 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX11 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
813603 Uncertain Significance: Microcephaly 31,103,640(+) G/A
NM_030653.4(DDX11):c.2600G>A (p.Arg867Gln) 		MISSENSE_VARIANT,SYNONYMOUS
915422 Pathogenic: Warsaw breakage syndrome 31,101,095(+) G/T
NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter) 		NONSENSE
992360 Likely Pathogenic: Warsaw breakage syndrome 31,096,900(+) C/T
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter) 		NONSENSE
992470 Likely Pathogenic: Warsaw breakage syndrome 31,094,622(+) C/CT
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) 		FRAMESHIFT
rs1046457 Benign: Warsaw breakage syndrome. - 31,103,612(+) G/Ap.Arg856His
NM_030653.4(DDX11):c.2572G>A (p.Val858Ile) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DDX11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DDX11 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DDX11 Gene

MalaCards: The human disease database

(12) MalaCards diseases for DDX11 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for DDX11

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

No data available for Genatlas for DDX11 Gene

Publications for DDX11 Gene

  1. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. (PMID: 20137776) van der Lelij P … de Winter JP (American journal of human genetics 2010) 4 23 74
  2. Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1. (PMID: 18499658) Farina A … Hurwitz J (The Journal of biological chemistry 2008) 3 4 23
  3. Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase. (PMID: 10648783) Hirota Y … Lahti JM (Nucleic acids research 2000) 3 4 23
  4. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. (PMID: 9013641) Amann J … Lahti JM (The Journal of biological chemistry 1997) 3 4 23
  5. The human homologue of the yeast CHL1 gene is a novel keratinocyte growth factor-regulated gene. (PMID: 8798685) Frank S … Werner S (The Journal of biological chemistry 1996) 3 4 23

ExternalLinks

View latest publications for DDX11 gene in Mastermind

Products for DDX11 Gene

  • Addgene plasmids for DDX11

Sources for DDX11 Gene