CDK13

CDK13
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5EFQ
Identifiers
Aliases	CDK13 , CDC2L, CDC2L5, CHED, hcyclin-dependent kinase 13, cyclin dependent kinase 13, CHDFIDD
External IDs	OMIM: 603309 MGI: 1916812 HomoloGene: 135707 GeneCards: CDK13
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p14.1 Start 39,950,121 bp [1] End 40,099,580 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 A2 Start 17,884,900 bp [2] End 17,979,682 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla visceral pleura pylorus nipple cardia endothelial cell ventral tegmental area inferior ganglion of vagus nerve parietal pleura external globus pallidus Top expressed in spermatocyte hand spermatid thymus spleen lymph node secondary oocyte otolith organ foot ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding kinase activity protein serine/threonine kinase activity protein binding RNA polymerase II CTD heptapeptide repeat kinase activity ATP binding cyclin binding cyclin-dependent protein serine/threonine kinase activity transcription factor binding protein kinase binding RNA binding Cellular component Golgi apparatus nuclear speck nuclear cyclin-dependent protein kinase holoenzyme complex cyclin K-CDK13 complex nucleus extracellular region extracellular space nucleoplasm chromosome cytosol cyclin/CDK positive transcription elongation factor complex ficolin-1-rich granule lumen cyclin-dependent protein kinase holoenzyme complex Biological process hemopoiesis phosphorylation of RNA polymerase II C-terminal domain phosphorylation mRNA processing multicellular organism development protein phosphorylation RNA splicing positive regulation of cell population proliferation viral process alternative mRNA splicing, via spliceosome regulation of mitotic nuclear division transcription elongation from RNA polymerase II promoter neutrophil degranulation positive regulation of transcription by RNA polymerase II negative regulation of stem cell differentiation positive regulation of transcription elongation from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8621 69562 Ensembl ENSG00000065883 ENSMUSG00000041297 UniProt Q14004 Q69ZA1 RefSeq (mRNA) NM_003718 NM_031267 NM_001081058 NM_027118 RefSeq (protein) NP_003709 NP_112557 NP_001074527 NP_081394 Location (UCSC) Chr 7: 39.95 – 40.1 Mb Chr 13: 17.88 – 17.98 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene. ^{[5] [6]}

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. ^[6]

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. ^[7] This fault affected the children's communication and language skills as well as causing learning difficulties. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000065883 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041297 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lapidot-Lifson Y, Patinkin D, Prody CA, Ehrlich G, Seidman S, Ben-Aziz R, et al. (Feb 1992). "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. Bibcode:1992PNAS...89..579L. doi: 10.1073/pnas.89.2.579 . PMC   48282 . PMID   1731328.
6. "Entrez Gene: CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller)".
7. McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, et al. (2017). "Prevalence and architecture of de novo mutations in developmental disorders" (PDF). Nature. 542 (7642): 433–438. Bibcode:2017Natur.542..433M. doi:10.1038/nature21062. hdl:20.500.11820/a89badba-7288-4be1-b3c5-a9b9e61d920d. PMC   6016744 . PMID   28135719.
8. Walsh F (2017-01-25). "Child gene study identifies new developmental disorders". BBC News. Retrieved 2017-01-27.

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

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Mackenzie LF, Brooke GS, Cutfield JF, Sullivan PA, Withers SG (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, Suyama A, Sugano S (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, Lozano JC, Schatt P, Picard A, 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, Kikuno R, Ohara O (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, Derge JG, Klausner RD, Collins FS, 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.
• Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-Mcpherson C, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi: 10.1038/nature01782 . PMID   12853948.
• Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, 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, Mukherji M, Stettler-Gill M, Peters EC (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, Mougin C, Groizeleau C, Hamburger A, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC   442148 . PMID   15231748.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID   15635413. S2CID   4344740.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Even Y, Durieux S, Escande ML, Lozano JC, Peaucellier G, Weil D, 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. S2CID   21022091.
• Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM (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, Rush J, Gygi SP (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. S2CID   14294292.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, 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.