Biology:TLK2
 Generic protein structure example |
Serine/threonine-protein kinase tousled-like 2 is an enzyme that in humans is encoded by the TLK2 gene.[1][2][3]
Function
The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly. These are different from other "tousled" varieties, such as flock-of-seagulls, post-coitus, or the-Sean-Bean.[supplied by OMIM][3]
Interactions
TLK2 has been shown to interact with TLK1,[2] ASF1B[4][5] and ASF1A.[5]
Clinical significance
Mutations in this gene have been linked to a specific form of autism spectrum disorder with unique facial features.[6] Amplifications of the nuclear localization sequence-encoding part of this gene have been linked to glioblastoma and lower-grade astrocytoma survival.[7]
References
- ↑ "cDNA cloning and chromosomal mapping of genes encoding novel protein kinases termed PKU-alpha and PKU-beta, which have nuclear localization signal". Gene 202 (1–2): 193–201. Nov 1997. doi:10.1016/S0378-1119(97)00495-2. PMID 9427565.
- ↑ 2.0 2.1 "Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication". The EMBO Journal 18 (20): 5691–702. Oct 1999. doi:10.1093/emboj/18.20.5691. PMID 10523312.
- ↑ 3.0 3.1 "Entrez Gene: TLK2 tousled-like kinase 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11011.
- ↑ "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
- ↑ 5.0 5.1 "Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases". Current Biology 11 (13): 1068–73. Jul 2001. doi:10.1016/S0960-9822(01)00298-6. PMID 11470414.
- ↑ Reijnders, Margot R.F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A.C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison et al. (2018). "De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder". The American Journal of Human Genetics 102 (6): 1195–1203. doi:10.1016/j.ajhg.2018.04.014. ISSN 0002-9297. PMID 29861108.
- ↑ Ponnapalli S.P., et int.; Alter O. (May 2020). "Retrospective clinical trial experimentally validates glioblastoma genome-wide pattern of DNA copy-number alterations predictor of survival". APL Bioengineering 4 (2): 026106. doi:10.1063/1.5142559. PMID 32478280.
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. Sep 1996. doi:10.1101/gr.6.9.791. PMID 8889548.
- "Nuclear localization of protein kinase U-alpha is regulated by 14-3-3". The Journal of Biological Chemistry 274 (35): 24865–72. Aug 1999. doi:10.1074/jbc.274.35.24865. PMID 10455159.
- "Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases". Current Biology 11 (13): 1068–73. Jul 2001. doi:10.1016/S0960-9822(01)00298-6. PMID 11470414.
- "Human Tousled like kinases are targeted by an ATM- and Chk1-dependent DNA damage checkpoint". The EMBO Journal 22 (7): 1676–87. Apr 2003. doi:10.1093/emboj/cdg151. PMID 12660173.
- "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America 101 (33): 12130–5. Aug 2004. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
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