View source for KMT2C

{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox_gene}}
'''Lysine N-methyltransferase 2C''' (KMT2C) also known as '''myeloid/lymphoid or mixed-lineage leukemia protein 3''' (MLL3) is an [[enzyme]] that in humans is encoded by the ''KMT2C'' [[gene]].<ref name="pmid10819331">{{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 7 | issue = 2 | pages = 143–150 | date = April 2000 | pmid = 10819331 | doi = 10.1093/dnares/7.2.143 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=58508}}</ref>
== Function ==
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an [[AT-hook]] DNA-binding domain, a DHHC-type zinc finger, six [[PHD-type zinc finger]]s, a [[SET domain]], a post-SET domain and a [[RING-type zinc finger]]. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.<ref name="entrez"/>
== Interactions ==
MLL3 has been shown to [[Protein-protein interaction|interact]] with [[NCOA6]]<ref name=pmid12482968>{{cite journal | vauthors = Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW | title = Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins | journal = Molecular and Cellular Biology | volume = 23 | issue = 1 | pages = 140–149 | date = January 2003 | pmid = 12482968 | pmc = 140670 | doi = 10.1128/MCB.23.1.140-149.2003 }}</ref> and [[RBBP5]].<ref name=pmid12482968/>
==Clinical significance==
Mutations of the KMT2C gene cause [[Kleefstra syndrome-2]], a neurodevelopmental disorder first described in 2012.<ref name="pmid22726846">{{cite journal | vauthors = Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H | title = Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability | journal = American Journal of Human Genetics | volume = 91 | issue = 1 | pages = 73–82 | date = July 2012 | pmid = 22726846 | pmc = 3397275 | doi = 10.1016/j.ajhg.2012.05.003 }}</ref>
== References ==
{{reflist}}
== Further reading ==
{{refbegin | 2}}
* {{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 Research | volume = 9 | issue = 3 | pages = 99–106 | date = June 2002 | pmid = 12168954 | doi = 10.1093/dnares/9.3.99 | doi-access = free }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
* {{cite journal | title = Toward a complete human genome sequence | journal = Genome Research | volume = 8 | issue = 11 | pages = 1097–1108 | date = November 1998 | pmid = 9847074 | doi = 10.1101/gr.8.11.1097 | doi-access = free | vauthors = Sanger Centre T, Washington University Genome Sequencing Cente T }}
* {{cite journal | vauthors = Tan YC, Chow VT | title = Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects | journal = Cancer Detection and Prevention | volume = 25 | issue = 5 | pages = 454–469 | year = 2002 | pmid = 11718452 }}
* {{cite journal | vauthors = Ruault M, Brun ME, Ventura M, Roizès G, De Sario A | title = MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia | journal = Gene | volume = 284 | issue = 1–2 | pages = 73–81 | date = February 2002 | pmid = 11891048 | doi = 10.1016/S0378-1119(02)00392-X }}
* {{cite journal | vauthors = Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW | title = Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins | journal = Molecular and Cellular Biology | volume = 23 | issue = 1 | pages = 140–149 | date = January 2003 | pmid = 12482968 | pmc = 140670 | doi = 10.1128/MCB.23.1.140-149.2003 }}
* {{cite journal | vauthors = Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S | title = Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions | journal = Genome Research | volume = 14 | issue = 9 | pages = 1711–1718 | date = September 2004 | pmid = 15342556 | pmc = 515316 | doi = 10.1101/gr.2435604 }}
* {{cite journal | vauthors = Fukuda K, Sakakura C, Miyagawa K, Kuriu Y, Kin S, Nakase Y, Hagiwara A, Mitsufuji S, Okazaki Y, Hayashizaki Y, Yamagishi H | title = Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation | journal = British Journal of Cancer | volume = 91 | issue = 8 | pages = 1543–1550 | date = October 2004 | pmid = 15365572 | pmc = 2409931 | doi = 10.1038/sj.bjc.6602187 }}
* {{cite journal | vauthors = Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = January 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}
* {{cite journal | vauthors = Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao H, Xiao L, Grishin NV, White M, Yang XJ, Zhao Y | title = Substrate and functional diversity of lysine acetylation revealed by a proteomics survey | journal = Molecular Cell | volume = 23 | issue = 4 | pages = 607–618 | date = August 2006 | pmid = 16916647 | doi = 10.1016/j.molcel.2006.06.026 | doi-access = free }}
* {{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 = 635–648 | date = November 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | s2cid = 7827573 | doi-access = free }}
* {{cite journal | vauthors = Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K | title = PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex | journal = The Journal of Biological Chemistry | volume = 282 | issue = 28 | pages = 20395–20406 | date = July 2007 | pmid = 17500065 | pmc = 2729684 | doi = 10.1074/jbc.M701574200 | doi-access = free }}
* {{cite journal | vauthors = Ahn CH, Yoo NJ, Lee JW, Lee SH, Lee SH | title = Absence of MLL3 mutations in colorectal carcinomas of Korean patients | journal = APMIS | volume = 115 | issue = 7 | pages = 859–860 | date = July 2007 | pmid = 17614854 | doi = 10.1111/j.1600-0463.2007.apm_696.x | s2cid = 2468083 }}
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== External links ==
* {{MeshName|MLL3+protein,+human}}
{{NLM content}}
{{Transcription factors|g0}}
[[Category:Transcription factors]]
{{protein-stub}}