CDK13
{{Short description|Protein-coding gene in humans}}
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{{Infobox_gene}}
Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene.{{cite journal | vauthors = Lapidot-Lifson Y, Patinkin D, Prody CA, Ehrlich G, Seidman S, Ben-Aziz R, Benseler F, Eckstein F, Zakut H, Soreq H | title = Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 2 | pages = 579–583 | date = January 1992 | pmid = 1731328 | pmc = 48282 | doi = 10.1073/pnas.89.2.579 | doi-access = free | bibcode = 1992PNAS...89..579L }}{{cite web | title = Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller) | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8621 }}
The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. Some of the cell cycle control kinases are able to phosphorylate proteins that are important for cell differentiation and apoptosis, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such as neurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually large N- and C-termini and is ubiquitously expressed in many tissues. Two alternatively spliced variants are described.
Clinical significance
Mutations in CDK13 cause CDK13-related disorder. A 2017 study of children with rare developmental disorders found 11 children in the United Kingdom who had a fault in their CDK13 gene.{{cite journal | vauthors = | title = Prevalence and architecture of de novo mutations in developmental disorders | journal = Nature | volume = 542 | issue = 7642 | pages = 433–438 | date = February 2017 | pmid = 28135719 | pmc = 6016744 | doi = 10.1038/nature21062 | bibcode = 2017Natur.542..433M | hdl = 20.500.11820/a89badba-7288-4be1-b3c5-a9b9e61d920d }} This fault affected the children's communication and language skills as well as causing learning difficulties.{{Cite news | vauthors = Walsh F | title = Child gene study identifies new developmental disorders | date = 2017-01-25 | url = https://www.bbc.co.uk/news/health-38691622 | newspaper = BBC News | language = en-GB | access-date = 2017-01-27 }}
References
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External links
- {{UCSC gene info|CDK13}}
- {{PDBe-KB2|Q14004|Cyclin-dependent kinase 13}}
Further reading
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- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–174 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
- {{cite journal | vauthors = Mackenzie LF, Brooke GS, Cutfield JF, Sullivan PA, Withers SG | title = Identification of Glu-330 as the catalytic nucleophile of Candida albicans exo-beta-(1,3)-glucanase | journal = The Journal of Biological Chemistry | volume = 272 | issue = 6 | pages = 3161–3167 | date = February 1997 | pmid = 9013549 | doi = 10.1074/jbc.272.6.3161 | doi-access = free }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–156 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = | title = Toward a complete human genome sequence | journal = Genome Research | volume = 8 | issue = 11 | pages = 1097–1108 | date = November 1998 | pmid = 9847074 | doi = 10.1101/gr.8.11.1097 | doi-access = free }}
- {{cite journal | vauthors = Marqués F, Moreau JL, Peaucellier G, Lozano JC, Schatt P, Picard A, Callebaut I, Perret E, Genevière AM | title = A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs | journal = Biochemical and Biophysical Research Communications | volume = 279 | issue = 3 | pages = 832–837 | date = December 2000 | pmid = 11162436 | doi = 10.1006/bbrc.2000.4042 }}
- {{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 8 | issue = 2 | pages = 85–95 | date = April 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 | doi-access = free }}
- {{cite journal | vauthors = Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM | title = Functional proteomics mapping of a human signaling pathway | journal = Genome Research | volume = 14 | issue = 7 | pages = 1324–1332 | date = July 2004 | pmid = 15231748 | pmc = 442148 | doi = 10.1101/gr.2334104 }}
- {{cite journal | vauthors = Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M | title = Nucleolar proteome dynamics | journal = Nature | volume = 433 | issue = 7021 | pages = 77–83 | date = January 2005 | pmid = 15635413 | doi = 10.1038/nature03207 | s2cid = 4344740 | bibcode = 2005Natur.433...77A }}
- {{cite journal | vauthors = Even Y, Durieux S, Escande ML, Lozano JC, Peaucellier G, Weil D, Genevière AM | title = CDC2L5, a Cdk-like kinase with RS domain, interacts with the ASF/SF2-associated protein p32 and affects splicing in vivo | journal = Journal of Cellular Biochemistry | volume = 99 | issue = 3 | pages = 890–904 | date = October 2006 | pmid = 16721827 | doi = 10.1002/jcb.20986 | s2cid = 21022091 }}
- {{cite journal | vauthors = Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM | title = A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex | journal = Genomics | volume = 88 | issue = 3 | pages = 333–346 | date = September 2006 | pmid = 16730941 | doi = 10.1016/j.ygeno.2006.04.003 | doi-access = }}
- {{cite journal | vauthors = Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP | title = A probability-based approach for high-throughput protein phosphorylation analysis and site localization | journal = Nature Biotechnology | volume = 24 | issue = 10 | pages = 1285–1292 | date = October 2006 | pmid = 16964243 | doi = 10.1038/nbt1240 | s2cid = 14294292 }}
- {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–648 | date = November 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | doi-access = free }}
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{{Serine/threonine-specific protein kinases}}
{{Cell cycle proteins}}
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