KAT6B explained

K(lysine) acetyltransferase 6B (KAT6B) is an enzyme that in humans is encoded by the KAT6B gene.^{[1] [2] [3]}

Interactions

KAT6B has been shown to interact with RUNX2.^[4]

Clinical significance

It has been demonstrated that de novo mutations in the gene KAT6B causes Young–Simpson syndrome and genitopatellar syndrome.^{[5] [6] [7] [8] [9]}

Further reading

• Pena AN, Pereira-Smith OM . The role of the MORF/MRG family of genes in cell growth, differentiation, DNA repair, and thereby aging . Ann. N. Y. Acad. Sci. . 1100 . 1. 299–305 . 2007 . 17460191 . 10.1196/annals.1395.031 . 2007NYASA1100..299P . 12635963 .
• Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones . DNA Res. . 9 . 3 . 99–106 . 2003 . 12168954 . 10.1093/dnares/9.3.99 . free .
• Topper M, Luo Y, Zhadina M, Mohammed K, Smith L, Muesing MA . Posttranslational Acetylation of the Human Immunodeficiency Virus Type 1 Integrase Carboxyl-Terminal Domain Is Dispensable for Viral Replication . J. Virol. . 81 . 6 . 3012–7 . 2007 . 17182677 . 1865993 . 10.1128/JVI.02257-06 .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Cereseto A, Manganaro L, Gutierrez MI, Terreni M, Fittipaldi A, Lusic M, Marcello A, Giacca M . Acetylation of HIV-1 integrase by p300 regulates viral integration . EMBO J. . 24 . 17 . 3070–81 . 2005 . 16096645 . 1201351 . 10.1038/sj.emboj.7600770 .
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . 2004PNAS..10112130B . free .
• Liu C, Lu J, Tan J, Li L, Huang B . 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 . 2005 . 15271374 . 10.1016/j.cyto.2004.02.003 .
• Pelletier N, Champagne N, Stifani S, Yang XJ . MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2 . Oncogene . 21 . 17 . 2729–40 . 2002 . 11965546 . 10.1038/sj.onc.1205367 . 19597517 .
• Panagopoulos I, Fioretos T, Isaksson M, Samuelsson U, Billström R, Strömbeck B, Mitelman F, Johansson B . Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13) . Hum. Mol. Genet. . 10 . 4 . 395–404 . 2001 . 11157802 . 10.1093/hmg/10.4.395 . free .

Notes and References

1. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 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 Res . 4 . 2 . 141–50 . Sep 1997 . 9205841 . 10.1093/dnares/4.2.141 . free .
2. Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, Heng HH, Yang XJ . Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein . J Biol Chem . 274 . 40 . 28528–36 . Nov 1999 . 10497217 . 10.1074/jbc.274.40.28528 . free .
3. Web site: Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4.
4. Pelletier N, Champagne N, Stifani S, Yang XJ . MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2 . Oncogene . 21 . 17 . 2729–40 . Apr 2002 . 11965546 . 10.1038/sj.onc.1205367 . 19597517 .
5. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH . Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome. . American Journal of Human Genetics . 90 . 2 . 282–9 . Jan 18, 2012 . 22265014 . 3276659 . 10.1016/j.ajhg.2011.11.023 .
6. Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G . Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome . Am. J. Hum. Genet. . 89 . 5 . 675–81 . Nov 2011 . 22077973 . 10.1016/j.ajhg.2011.10.008 . 3213399.
7. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH . Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome . . 90 . 2 . 282–9 . Jan 2012 . 22265014 . 3276659 . 10.1016/j.ajhg.2011.11.023 .
8. Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH . The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. . Human Mutation . 33 . 11 . 1520–5 . Jun 19, 2012 . 22715153 . 10.1002/humu.22141 . 3696352 .
9. Mendez. Rodrigo. Delea. Marisol. Dain. Liliana. Rittler. Monica. 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. 10.1097/mcd.0000000000000270. 30921092. 85565150.