DDX11

DDX11
Identifiers
Aliases	DDX11, CHL1, CHLR1, KRG2, WABS, DEAD/H-box helicase 11
External IDs	OMIM: 601150; MGI: 2443590; HomoloGene: 68973; GeneCards: DDX11; OMA:DDX11 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p11.21 Start 31,073,860 bp End 31,104,799 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17|17 E1.1 Start 66,430,515 bp End 66,459,169 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon body of pancreas left ovary body of uterus right ovary apex of heart lymph node left testis ventricular zone spleen Top expressed in primary oocyte hand spermatocyte secondary oocyte Paneth cell zygote epiblast ventricular zone tail of embryo renal corpuscle More reference expression data BioGPS n/a
Gene ontology Molecular function 4 iron, 4 sulfur cluster binding nucleotide binding helicase activity iron-sulfur cluster binding metal ion binding single-stranded DNA binding hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides protein binding RNA binding nucleic acid binding double-stranded DNA binding hydrolase activity ATP binding DNA binding chromatin binding DNA replication origin binding single-stranded RNA binding DNA helicase activity ATP-dependent activity, acting on DNA ATP-dependent activity, acting on RNA triplex DNA binding G-quadruplex DNA binding Cellular component nucleolus extracellular exosome nucleus spindle pole fibrillar center nucleoplasm chromosome cytoplasm centrosome microtubule organizing center cytoskeleton midbody mitotic cohesin complex Ctf18 RFC-like complex Biological process sister chromatid cohesion IRE1-mediated unfolded protein response viral process nucleobase-containing compound metabolic process DNA replication DNA repair transcription, DNA-templated regulation of transcription, DNA-templated cellular response to DNA damage stimulus multicellular organism development replication fork processing positive regulation of endodeoxyribonuclease activity negative regulation of protein binding DNA duplex unwinding positive regulation of chromatin binding G-quadruplex DNA unwinding positive regulation of sister chromatid cohesion cellular response to hydroxyurea cellular response to cisplatin positive regulation of transcription of nucleolar large rRNA by RNA polymerase I cellular response to bleomycin nucleolar chromatin organization positive regulation of double-strand break repair establishment of sister chromatid cohesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1663 320209 Ensembl ENSG00000013573 ENSMUSG00000035842 UniProt Q96FC9 Q6AXC6 RefSeq (mRNA) NM_001257144 NM_001257145 NM_004399 NM_030653 NM_030655 NM_152438 NM_001003919 NM_001348292 RefSeq (protein) NP_001244073 NP_001244074 NP_004390 NP_085911 NP_689651 NP_001003919 NP_001335221 Location (UCSC) Chr 12: 31.07 – 31.1 Mb Chr 17: 66.43 – 66.46 Mb PubMed search
Wikidata
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Probable ATP-dependent RNA helicase DDX11 is an enzyme that in humans is encoded by the DDX11 gene.

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.

See also

• Warsaw breakage syndrome, genetic condition caused by mutation of the DDX11

Further reading

• Baens M, Aerssens J, van Zand K, et al. (1996). "Isolation and regional assignment of human chromosome 12p cDNAs". Genomics. 29 (1): 44–52. doi:10.1006/geno.1995.1213. PMID 8530100.
• Frank S, Werner S (1996). "The human homologue of the yeast CHL1 gene is a novel keratinocyte growth factor-regulated gene". J. Biol. Chem. 271 (40): 24337–40. doi:10.1074/jbc.271.40.24337. PMID 8798685.
• Amann J, Valentine M, Kidd VJ, Lahti JM (1997). "Localization of chi1-related helicase genes to human chromosome regions 12p11 and 12p13: similarity between parts of these genes and conserved human telomeric-associated DNA". Genomics. 32 (2): 260–5. doi:10.1006/geno.1996.0113. PMID 8833153.
• Amann J, Kidd VJ, Lahti JM (1997). "Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1". J. Biol. Chem. 272 (6): 3823–32. doi:10.1074/jbc.272.6.3823. PMID 9013641.
• Hirota Y, Lahti JM (2000). "Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase". Nucleic Acids Res. 28 (4): 917–24. doi:10.1093/nar/28.4.917. PMC 102573. PMID 10648783.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Vasa-Nicotera M, Brouilette S, Mangino M, et al. (2005). "Mapping of a major locus that determines telomere length in humans". Am. J. Hum. Genet. 76 (1): 147–51. doi:10.1086/426734. PMC 1196417. PMID 15520935.
• Parish JL, Rosa J, Wang X, et al. (2007). "The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells". J. Cell Sci. 119 (Pt 23): 4857–65. doi:10.1242/jcs.03262. PMID 17105772. S2CID 26412273.
• Parish JL, Bean AM, Park RB, Androphy EJ (2007). "ChlR1 is required for loading papillomavirus E2 onto mitotic chromosomes and viral genome maintenance". Mol. Cell. 24 (6): 867–76. doi:10.1016/j.molcel.2006.11.005. PMID 17189189.