Human Gene DDX11 (ENST00000545668.5) from GENCODE V44
Description: Homo sapiens DEAD/H-box helicase 11 (DDX11), transcript variant 3, mRNA. (from RefSeq NM_152438) RefSeq Summary (NM_001257144): 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]. Gencode Transcript: ENST00000545668.5 Gencode Gene: ENSG00000013573.17 Transcript (Including UTRs) Position: hg38 chr12:31,073,894-31,104,791 Size: 30,898 Total Exon Count: 27 Strand: + Coding Region Position: hg38 chr12:31,078,394-31,104,033 Size: 25,640 Coding Exon Count: 26
ID:DDX11_HUMAN DESCRIPTION: RecName: Full=Probable ATP-dependent RNA helicase DDX11; EC=3.6.4.13; AltName: Full=CHL1-related protein 1; Short=hCHLR1; AltName: Full=DEAD/H box protein 11; AltName: Full=Keratinocyte growth factor-regulated gene 2 protein; Short=KRG-2; 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. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. COFACTOR: Binds 1 4Fe-4S cluster (By similarity). ENZYME REGULATION: Helicase shows maximal activity with magnesium ions at low concentrations (0.5-1mM) whereas is markedly inhibited at higher levels (5 mM and above). Stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate. The ATPase activity is stimulated by high salt levels (up to a 0.1 M) and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts. SUBUNIT: Interacts with the CTF18-RFC complex, PCNA and FEN1. Forms a complex with RAD21, SMC1 and SMC3. Interacts with bovine papillomavirus type 1 regulatory protein E2. SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. 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. 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. DISEASE: 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. SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SEQUENCE CAUTION: Sequence=CAA67895.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA67895.1; Type=Frameshift; Positions=644, 648;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96FC9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006139 nucleobase-containing compound metabolic process GO:0006260 DNA replication GO:0006281 DNA repair GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006974 cellular response to DNA damage stimulus GO:0007062 sister chromatid cohesion GO:0007275 multicellular organism development GO:0016032 viral process 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:0035563 positive regulation of chromatin binding GO:0036498 IRE1-mediated unfolded protein response GO:0044806 G-quadruplex DNA unwinding GO:0045876 positive regulation of sister chromatid cohesion GO:0072711 cellular response to hydroxyurea GO:0072719 cellular response to cisplatin GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1904976 cellular response to bleomycin GO:1990700 nucleolar chromatin organization GO:2000781 positive regulation of double-strand break repair