TLK2
Serine/threonine-protein kinase tousled-like 2 is an enzyme that in humans is encoded by the TLK2 gene.[5][6][7]
Function
[edit]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][7]
Interactions
[edit]TLK2 has been shown to interact with TLK1,[6] ASF1B[8][9] and ASF1A.[9]
Clinical significance
[edit]Mutations in this gene have been linked to a specific form of autism spectrum disorder with unique facial features.[10] Amplifications of the nuclear localization sequence-encoding part of this gene have been linked to glioblastoma and lower-grade astrocytoma survival.[11]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000146872 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020694 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Yamakawa A, Kameoka Y, Hashimoto K, Yoshitake Y, Nishikawa K, Tanihara K, et al. (Nov 1997). "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. doi:10.1016/S0378-1119(97)00495-2. PMID 9427565.
- ^ a b Silljé HH, Takahashi K, Tanaka K, Van Houwe G, Nigg EA (Oct 1999). "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. doi:10.1093/emboj/18.20.5691. PMC 1171636. PMID 10523312.
- ^ a b "Entrez Gene: TLK2 tousled-like kinase 2".
- ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- ^ a b Silljé HH, Nigg EA (Jul 2001). "Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases". Current Biology. 11 (13): 1068–73. Bibcode:2001CBio...11.1068S. doi:10.1016/S0960-9822(01)00298-6. PMID 11470414. S2CID 8866062.
- ^ Reijnders MR, Miller KA, Alvi M, Goos JA, Lees MM, de Burca A, 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. PMC 5992133. 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. PMC 7229984. PMID 32478280.
Further reading
[edit]- Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Zhang S, Xing H, Muslin AJ (August 1999). "Nuclear localization of protein kinase U-alpha is regulated by 14-3-3". The Journal of Biological Chemistry. 274 (35): 24865–24872. doi:10.1074/jbc.274.35.24865. PMID 10455159.
- Silljé HH, Nigg EA (July 2001). "Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases". Current Biology. 11 (13): 1068–1073. Bibcode:2001CBio...11.1068S. doi:10.1016/S0960-9822(01)00298-6. PMID 11470414. S2CID 8866062.
- Groth A, Lukas J, Nigg EA, Silljé HH, Wernstedt C, Bartek J, et al. (April 2003). "Human Tousled like kinases are targeted by an ATM- and Chk1-dependent DNA damage checkpoint". The EMBO Journal. 22 (7): 1676–1687. doi:10.1093/emboj/cdg151. PMC 152895. PMID 12660173.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
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