Biology:KAT6B
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "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. doi:10.1093/dnares/4.2.141. PMID 9205841.
- ↑ "Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein". J Biol Chem 274 (40): 28528–36. Nov 1999. doi:10.1074/jbc.274.40.28528. PMID 10497217.
- ↑ "Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23522.
- ↑ "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene 21 (17): 2729–40. Apr 2002. doi:10.1038/sj.onc.1205367. PMID 11965546.
- ↑ "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome.". American Journal of Human Genetics 90 (2): 282–9. Jan 18, 2012. doi:10.1016/j.ajhg.2011.11.023. PMID 22265014.
- ↑ "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. doi:10.1016/j.ajhg.2011.10.008. PMID 22077973.
- ↑ "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics 90 (2): 282–9. Jan 2012. doi:10.1016/j.ajhg.2011.11.023. PMID 22265014.
- ↑ "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. doi:10.1002/humu.22141. PMID 22715153.
- ↑ 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. doi:10.1097/mcd.0000000000000270. PMID 30921092.
Further reading
- "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. doi:10.1196/annals.1395.031. PMID 17460191. Bibcode: 2007NYASA1100..299P.
- "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. 2003. doi:10.1093/dnares/9.3.99. PMID 12168954.
- "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. doi:10.1128/JVI.02257-06. PMID 17182677.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "Acetylation of HIV-1 integrase by p300 regulates viral integration". EMBO J. 24 (17): 3070–81. 2005. doi:10.1038/sj.emboj.7600770. PMID 16096645.
- "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. 2004. doi:10.1073/pnas.0404720101. PMID 15302935. Bibcode: 2004PNAS..10112130B.
- "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. doi:10.1016/j.cyto.2004.02.003. PMID 15271374.
- "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene 21 (17): 2729–40. 2002. doi:10.1038/sj.onc.1205367. PMID 11965546.
- "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. doi:10.1093/hmg/10.4.395. PMID 11157802.
External links
- MYST4+protein,+human at the US 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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