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KAT6B

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{cs1 config|name-list-style=vanc}}{{about|the human gene also known as MYST4|the computer game|Myst IV}}

{{Infobox_gene}}

K(lysine) acetyltransferase 6B (KAT6B) is an enzyme that in humans is encoded by the KAT6B gene.{{cite journal |vauthors=Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res | volume = 4 | issue = 2 | pages = 141–50 | date = Sep 1997 | pmid = 9205841 | doi = 10.1093/dnares/4.2.141 | doi-access = free }}{{cite journal |vauthors=Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, Heng HH, Yang XJ | title = Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein | journal = J Biol Chem | volume = 274 | issue = 40 | pages = 28528–36 | date = Nov 1999 | pmid = 10497217 | doi = 10.1074/jbc.274.40.28528 | doi-access = free }}{{cite web | title = Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23522}}

Interactions

KAT6B has been shown to interact with RUNX2.{{cite journal |vauthors=Pelletier N, Champagne N, Stifani S, Yang XJ | title = MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2 | journal = Oncogene | volume = 21 | issue = 17 | pages = 2729–40 | date = Apr 2002 | pmid = 11965546 | doi = 10.1038/sj.onc.1205367 | doi-access = | s2cid = 19597517 }}

Clinical significance

It has been demonstrated that de novo mutations in the gene KAT6B causes Young–Simpson syndrome and genitopatellar syndrome.{{cite journal |vauthors=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 | title = Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome. | journal = American Journal of Human Genetics | volume = 90 | issue = 2 | pages = 282–9 | date = Jan 18, 2012 | pmid = 22265014 | pmc = 3276659 | doi = 10.1016/j.ajhg.2011.11.023 }}{{cite journal |vauthors=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 | title = Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome | journal = Am. J. Hum. Genet. | volume = 89 | issue = 5 | pages = 675–81 | date = Nov 2011 | pmid = 22077973 | doi = 10.1016/j.ajhg.2011.10.008 | pmc=3213399}}{{cite journal |vauthors=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 | title = Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome | journal = American Journal of Human Genetics | volume = 90 | issue = 2 | pages = 282–9 | date = Jan 2012 | pmid = 22265014 | pmc = 3276659 | doi = 10.1016/j.ajhg.2011.11.023 }}{{cite journal |vauthors=Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH | title = The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. | journal = Human Mutation | volume = 33 | issue = 11 | pages = 1520–5 | date = Jun 19, 2012 | pmid = 22715153 | doi = 10.1002/humu.22141 | pmc = 3696352 }}{{cite journal|last1=Mendez|first1=Rodrigo|last2=Delea|first2=Marisol|last3=Dain|first3=Liliana|last4=Rittler|first4=Monica|date=January 2020|title=A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome|journal=Clinical Dysmorphology|volume=29|issue=1|pages=42–45|doi=10.1097/mcd.0000000000000270|pmid=30921092|s2cid=85565150}}

References

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Further reading

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  • {{cite journal |vauthors=Pena AN, Pereira-Smith OM | title = The role of the MORF/MRG family of genes in cell growth, differentiation, DNA repair, and thereby aging | journal = Ann. N. Y. Acad. Sci. | volume = 1100 | issue = 1| pages = 299–305 | year = 2007 | pmid = 17460191 | doi = 10.1196/annals.1395.031 | bibcode = 2007NYASA1100..299P | s2cid = 12635963 }}
  • {{cite journal |vauthors=Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T | title = Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones | journal = DNA Res. | volume = 9 | issue = 3 | pages = 99–106 | year = 2003 | pmid = 12168954 | doi = 10.1093/dnares/9.3.99 | doi-access = free }}
  • {{cite journal |vauthors=Topper M, Luo Y, Zhadina M, Mohammed K, Smith L, Muesing MA | title = Posttranslational Acetylation of the Human Immunodeficiency Virus Type 1 Integrase Carboxyl-Terminal Domain Is Dispensable for Viral Replication | journal = J. Virol. | volume = 81 | issue = 6 | pages = 3012–7 | year = 2007 | pmid = 17182677 | pmc = 1865993 | doi = 10.1128/JVI.02257-06 }}
  • {{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | year = 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | s2cid = 7827573 | doi-access = free }}
  • {{cite journal |vauthors=Cereseto A, Manganaro L, Gutierrez MI, Terreni M, Fittipaldi A, Lusic M, Marcello A, Giacca M | title = Acetylation of HIV-1 integrase by p300 regulates viral integration | journal = EMBO J. | volume = 24 | issue = 17 | pages = 3070–81 | year = 2005 | pmid = 16096645 | pmc = 1201351 | doi = 10.1038/sj.emboj.7600770 }}
  • {{cite journal |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 101 | issue = 33 | pages = 12130–5 | year = 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 | bibcode = 2004PNAS..10112130B | doi-access = free }}
  • {{cite journal |vauthors=Liu C, Lu J, Tan J, Li L, Huang B | title = Human interleukin-5 expression is synergistically regulated by histone acetyltransferase CBP/p300 and transcription factors C/EBP, NF-AT and AP-1 | journal = Cytokine | volume = 27 | issue = 4–5 | pages = 93–100 | year = 2005 | pmid = 15271374 | doi = 10.1016/j.cyto.2004.02.003 }}
  • {{cite journal |vauthors=Pelletier N, Champagne N, Stifani S, Yang XJ | title = MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2 | journal = Oncogene | volume = 21 | issue = 17 | pages = 2729–40 | year = 2002 | pmid = 11965546 | doi = 10.1038/sj.onc.1205367 | doi-access = | s2cid = 19597517 }}
  • {{cite journal |vauthors=Panagopoulos I, Fioretos T, Isaksson M, Samuelsson U, Billström R, Strömbeck B, Mitelman F, Johansson B | title = Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13) | journal = Hum. Mol. Genet. | volume = 10 | issue = 4 | pages = 395–404 | year = 2001 | pmid = 11157802 | doi = 10.1093/hmg/10.4.395 | doi-access = free }}

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External links

  • {{MeshName|MYST4+protein,+human}}
  • {{PDBe-KB2|Q8WYB5|Histone acetyltransferase KAT6B}}

{{NLM content}}

{{Transcription factors}}

Category:Transcription factors

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