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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]
DDX11 (DEAD/H-Box Helicase 11) is a Protein Coding gene. Diseases associated with DDX11 include Warsaw Breakage Syndrome and Roberts Syndrome. Among its related pathways are Unfolded Protein Response (UPR) and Metabolism of proteins. 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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear 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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Unfolded Protein Response (UPR) | ||
2 | Metabolism of proteins |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DDX11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DDX11 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ddx11 30 |
|
||
Cow (Bos Taurus) |
Mammalia | LOC506293 30 |
|
||
DDX11 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Ddx11 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DDX11 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DDX11 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DDX11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DDX11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ddx11 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ddx11 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11403 30 31 |
|
OneToOne | |
EG:33C11.2 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001537 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | chl-1 30 31 |
|
OneToOne | |
M03C11.2 32 |
|
|
|||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F27181g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL010W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHL1 30 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G79890 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11409 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | chl1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638411 | Pathogenic: Warsaw breakage syndrome | 31,103,021(+) | G/T | SPLICE_DONOR_VARIANT | |
708407 | Benign: not provided | 31,083,815(+) | G/A | SYNONYMOUS_VARIANT | |
708543 | Benign: not provided | 31,103,372(+) | T/C | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
710450 | Benign: not provided | 31,093,332(+) | C/T | INTRON_VARIANT | |
710969 | Likely Benign: not provided | 31,096,738(+) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
warsaw breakage syndrome |
|
|
roberts syndrome |
|
|
warsaw syndrome |
|
|
chronic atrial and intestinal dysrhythmia |
|
|
fanconi anemia, complementation group j |
|
|