InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DDX11

Summary

InnateDB Protein

IDBP-366586.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DDX11

Protein Name

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11

Synonyms

CHL1; CHLR1; KRG2; WABS;

Species

Homo sapiens

Ensembl Protein

ENSP00000406799

InnateDB Gene

IDBG-25634 (DDX11)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:10648783, ECO:0000269PubMed:17105772, ECO:0000269PubMed:17189189, ECO:0000269PubMed:18499658, ECO:0000269PubMed:9013641}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:17105772}. Nucleus, nucleolus {ECO:0000269PubMed:17105772}. 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.

Disease Associations

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

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. {ECO:0000269PubMed:8798685, ECO:0000269PubMed:9013641}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003678	DNA helicase activity
GO:0003723	RNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008094	DNA-dependent ATPase activity
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0046872	metal ion binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0000070	mitotic sister chromatid segregation
GO:0000084	mitotic S phase
GO:0000086	G2/M transition of mitotic cell cycle
GO:0006200	ATP catabolic process
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0007062	sister chromatid cohesion
GO:0008284	positive regulation of cell proliferation
GO:0016032	viral process
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0032508	DNA duplex unwinding
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0000790	nuclear chromatin
GO:0000922	spindle pole
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0030496	midbody

Protein Structure and Domains

PDB ID

InterPro

IPR006554 Helicase-like, DEXD box c2 type
IPR014013 Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PRINTS

PIRSF

SMART

SM00488

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96FC9

PhosphoSite