| Function: |
DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414). |
| Tissue Specificity: |
Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level) (PubMed:23116066). Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine and pancreas (PubMed:9013641). Very low expression seen in brain (PubMed:9013641). Expressed in dividing cells and/or cells undergoing high levels of recombination (PubMed:9013641). No expression detected in cells signaled to terminally differentiate (PubMed:9013641). Expressed weakly in keratinocytes (PubMed:8798685). |
| Involvement in Disease: |
Warsaw breakage syndrome: 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. |
| Sequence Similarities: |
Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. |
| Cellular Location: |
Nucleus. Nucleus > Nucleolus. Cytoplasm > Cytoskeleton > Spindle pole. Midbody. Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome.
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) (PubMed:17105772). In interphase, colocalizes with nucleolin in the nucleolus (PubMed:26089203). |
| Database Links: |
Entrez Gene: 1663?HumanOmim: 601150?HumanSwissProt: Q96FC9?HumanUnigene: 443960?Human |
| Synonyms: |
CHL1 AntibodyCHL1 related helicase gene 1 AntibodyCHL1-like helicase homolog AntibodyCHL1-related protein 1 AntibodyCHLR1 AntibodyDDX11 AntibodyDDX11_HUMAN AntibodyDEAD/H (Asp Glu Ala Asp/His) box polypeptide 11 AntibodyDEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 AntibodyDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) AntibodyDEAD/H box AntibodyDEAD/H box protein 11 AntibodyhCHLR1 AntibodyKeratinocyte growth factor regulated gene 2 protein AntibodyKeratinocyte growth factor-regulated gene 2 protein AntibodyKRG 2 AntibodyKRG-2 AntibodyKRG2 AntibodyMGC133249 AntibodyMGC9335 AntibodyOTTHUMP00000238778 AntibodyOTTHUMP00000238780 AntibodyOTTHUMP00000238784 AntibodyOTTHUMP00000238785 AntibodyProbable ATP dependent RNA helicase DDX11 AntibodyProbable ATP-dependent RNA helicase DDX11 AntibodyWABS Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
