Entity Details

Primary name DDX11
Entity type gene
Source Source Link

Details

PrimaryID1663
RefseqGeneNG_023352
SymbolDDX11
NameDEAD/H-box helicase 11
Chromosome12
Location12p11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDDX11_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000922 spindle pole
GO:0001650 fibrillar center
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003682 chromatin binding
GO:0003688 DNA replication origin binding
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0003727 single-stranded RNA binding
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0007062 sister chromatid cohesion
GO:0007275 multicellular organism development
GO:0008094 ATPase, acting on DNA
GO:0008186 ATPase, acting on RNA
GO:0016032 viral process
GO:0030496 midbody
GO:0031297 replication fork processing
GO:0032079 positive regulation of endodeoxyribonuclease activity
GO:0032091 negative regulation of protein binding
GO:0032508 DNA duplex unwinding
GO:0034085 establishment of sister chromatid cohesion
GO:0035563 positive regulation of chromatin binding
GO:0036498 IRE1-mediated unfolded protein response
GO:0044806 G-quadruplex DNA unwinding
GO:0045142 triplex DNA binding
GO:0045876 positive regulation of sister chromatid cohesion
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0051880 G-quadruplex DNA binding
GO:0070062 extracellular exosome
GO:0072711 cellular response to hydroxyurea
GO:0072719 cellular response to cisplatin
GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I
GO:1904976 cellular response to bleomycin
GO:1990700 nucleolar chromatin organization
GO:2000781 positive regulation of double-strand break repair

Diseases

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Disease IDSourceNameDescription
613398 OMIMWarsaw breakage syndrome (WBRS)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. The disease is caused by variants affecting the gene represented in this entry.