Recombinant Human DDX11 protein (ab117038)

関連情報

• 別名
  • CHL1
  • CHL1 related helicase gene 1
  • CHL1-like helicase homolog

  • CHL1-related protein 1
  • CHLR1
  • Ddx11
  • DDX11_HUMAN
  • DEAD/H (Asp Glu Ala Asp/His) box polypeptide 11
  • DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)
  • DEAD/H box
  • DEAD/H box protein 11
  • hCHLR1
  • Keratinocyte growth factor regulated gene 2 protein
  • Keratinocyte growth factor-regulated gene 2 protein
  • KRG 2
  • KRG-2
  • KRG2
  • MGC133249
  • MGC9335
  • OTTHUMP00000238778
  • OTTHUMP00000238780
  • OTTHUMP00000238784
  • OTTHUMP00000238785
  • Probable ATP dependent RNA helicase DDX11
  • Probable ATP-dependent RNA helicase DDX11
  • WABS

  see all
• 機能
  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 recruitement 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.
• 組織特異性
  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.
• 関連疾患
  Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS) [MIM:613398]. 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.
• 配列類似性
  Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily.
  Contains 1 helicase ATP-binding domain.
• 細胞内局在
  Nucleus. Nucleus > nucleolus. 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.

• Target information above from: UniProt accession Q96FC9 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt