KAT6B
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K(lysine) acetyltransferase 6B (KAT6B) is an enzyme that in humans is encoded by the KAT6B gene.[5][6][7]
Interactions
[edit]Clinical significance
[edit]It has been demonstrated that de novo mutations in the gene KAT6B causes Young–Simpson syndrome and genitopatellar syndrome.[9][10][9][11][12]
References
[edit]- 1 2 3 ENSG00000281813 GRCh38: Ensembl release 89: ENSG00000156650, ENSG00000281813 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021767 – 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.
- ↑ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, et al. (September 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–150. doi:10.1093/dnares/4.2.141. PMID 9205841.
- ↑ Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, et al. (November 1999). "Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein". The Journal of Biological Chemistry. 274 (40): 28528–28536. doi:10.1074/jbc.274.40.28528. PMID 10497217.
- ↑ "Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4".
- ↑ Pelletier N, Champagne N, Stifani S, Yang XJ (April 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene. 21 (17): 2729–2740. doi:10.1038/sj.onc.1205367. PMID 11965546. S2CID 19597517.
- 1 2 Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, et al. (January 18, 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics. 90 (2): 282–289. doi:10.1016/j.ajhg.2011.11.023. PMC 3276659. PMID 22265014.
- ↑ Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, et al. (November 2011). "Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome". American Journal of Human Genetics. 89 (5): 675–681. doi:10.1016/j.ajhg.2011.10.008. PMC 3213399. PMID 22077973.
- ↑ Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, et al. (June 19, 2012). "The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms". Human Mutation. 33 (11): 1520–1525. doi:10.1002/humu.22141. PMC 3696352. PMID 22715153.
- ↑ Mendez R, Delea M, Dain L, Rittler M (January 2020). "A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome". Clinical Dysmorphology. 29 (1): 42–45. doi:10.1097/mcd.0000000000000270. hdl:11336/118181. PMID 30921092. S2CID 85565150.
Further reading
[edit]- Pena AN, Pereira-Smith OM (2007). "The role of the MORF/MRG family of genes in cell growth, differentiation, DNA repair, and thereby aging". Annals of the New York Academy of Sciences. 1100 (1): 299–305. Bibcode:2007NYASA1100..299P. doi:10.1196/annals.1395.031. PMID 17460191. S2CID 12635963.
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
- Topper M, Luo Y, Zhadina M, Mohammed K, Smith L, Muesing MA (2007). "Posttranslational Acetylation of the Human Immunodeficiency Virus Type 1 Integrase Carboxyl-Terminal Domain Is Dispensable for Viral Replication". Journal of Virology. 81 (6): 3012–3017. doi:10.1128/JVI.02257-06. PMC 1865993. PMID 17182677.
- 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): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- Cereseto A, Manganaro L, Gutierrez MI, Terreni M, Fittipaldi A, Lusic M, et al. (2005). "Acetylation of HIV-1 integrase by p300 regulates viral integration". The EMBO Journal. 24 (17): 3070–3081. doi:10.1038/sj.emboj.7600770. PMC 1201351. PMID 16096645.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (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.
- Liu C, Lu J, Tan J, Li L, Huang B (2005). "Human interleukin-5 expression is synergistically regulated by histone acetyltransferase CBP/p300 and transcription factors C/EBP, NF-AT and AP-1". Cytokine. 27 (4–5): 93–100. doi:10.1016/j.cyto.2004.02.003. PMID 15271374.
- Panagopoulos I, Fioretos T, Isaksson M, Samuelsson U, Billström R, Strömbeck B, et al. (2001). "Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)". Human Molecular Genetics. 10 (4): 395–404. doi:10.1093/hmg/10.4.395. PMID 11157802.
External links
[edit]- MYST4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Overview of all the structural information available in the PDB for UniProt: Q8WYB5 (Histone acetyltransferase KAT6B) at the PDBe-KB.
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