Biology:CDK13
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene.[1][2]
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.[2]
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.[3] This fault affected the children's communication and language skills as well as causing learning difficulties.[4]
References
- ↑ "Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis". Proc Natl Acad Sci U S A 89 (2): 579–83. Feb 1992. doi:10.1073/pnas.89.2.579. PMID 1731328.
- ↑ 2.0 2.1 "Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8621.
- ↑ McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart et al. (2017). "Prevalence and architecture of de novo mutations in developmental disorders". Nature 542 (7642): 433–438. doi:10.1038/nature21062. PMID 28135719. PMC 6016744. http://eprints.whiterose.ac.uk/141471/1/Prevalence%20and%20architecture%20of%20de%20novo%20mutations%20in%20developmental%20disorders.pdf.
- ↑ Walsh, Fergus (2017-01-25). "Child gene study identifies new developmental disorders" (in en-GB). BBC News. https://www.bbc.co.uk/news/health-38691622.
External links
- Human CDK13 genome location and CDK13 gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q14004 (Cyclin-dependent kinase 13) at the PDBe-KB.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Mackenzie LF; Brooke GS; Cutfield JF et al. (1997). "Identification of Glu-330 as the catalytic nucleophile of Candida albicans exo-beta-(1,3)-glucanase". J. Biol. Chem. 272 (6): 3161–7. doi:10.1074/jbc.272.6.3161. PMID 9013549.
- Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- <Please add first missing authors to populate metadata.> (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Marqués F; Moreau JL; Peaucellier G et al. (2001). "A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs". Biochem. Biophys. Res. Commun. 279 (3): 832–7. doi:10.1006/bbrc.2000.4042. PMID 11162436.
- Nagase T; Nakayama M; Nakajima D et al. (2001). "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". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
- 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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- Hillier LW; Fulton RS; Fulton LA et al. (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948. Bibcode: 2003Natur.424..157H.
- 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.
- Brill LM; Salomon AR; Ficarro SB et al. (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID 15144186.
- Colland F; Jacq X; Trouplin V et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748.
- Beausoleil SA; Jedrychowski M; Schwartz D et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- Andersen JS; Lam YW; Leung AK et al. (2005). "Nucleolar proteome dynamics". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413. Bibcode: 2005Natur.433...77A.
- Rual JF; Venkatesan K; Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- Even Y; Durieux S; Escande ML et al. (2007). "CDC2L5, a Cdk-like kinase with RS domain, interacts with the ASF/SF2-associated protein p32 and affects splicing in vivo". J. Cell. Biochem. 99 (3): 890–904. doi:10.1002/jcb.20986. PMID 16721827.
- Tsang HT; Connell JW; Brown SE et al. (2006). "A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex". Genomics 88 (3): 333–46. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.
- Beausoleil SA; Villén J; Gerber SA et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
- Olsen JV; Blagoev B; Gnad F et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
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