Probable ATP-Dependent RNA Helicase DDX11 (DDX11) ELISA Kit for Human

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: 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. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS). It is 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. Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.6.4.13; Helicase; Nucleolus

Chromosomal Location of Human Ortholog: 12p11.21

Cellular Component: centrosome; cytoplasm; fibrillar center; midbody; nuclear chromatin; nucleolus; nucleoplasm; nucleus; spindle pole

Molecular Function: 4 iron, 4 sulfur cluster binding; ATP binding; ATP-dependent DNA helicase activity; ATP-dependent helicase activity; chromatin binding; DNA binding; DNA replication origin binding; DNA-dependent ATPase activity; double-stranded DNA binding; G-quadruplex DNA binding; helicase activity; metal ion binding; protein binding; RNA-dependent ATPase activity; single-stranded DNA binding; single-stranded RNA binding; triplex DNA binding

Biological Process: cellular response to DNA damage stimulus; DNA duplex unwinding; DNA repair; multicellular organism development; negative regulation of protein binding; positive regulation of endodeoxyribonuclease activity; positive regulation of sister chromatid cohesion; replication fork processing; sister chromatid cohesion; transcription, DNA-dependent; viral process

Disease: Warsaw Breakage Syndrome