Protein-coding gene in the species Homo sapiens
Lysine N-methyltransferase 2C (KMT2C) also known asmyeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is anenzyme that in humans is encoded by theKMT2C gene .[ 4] [ 5]
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with anAT-hook DNA-binding domain, a DHHC-type zinc finger, sixPHD-type zinc fingers , aSET domain , a post-SET domain and aRING-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.[ 5]
MLL3 has been shown tointeract withNCOA6 [ 6] RBBP5 .[ 6]
Clinical significance [ edit ] Mutations of the KMT2C gene causeKleefstra syndrome-2 , a neurodevelopmental disorder first described in 2012.[ 7]
^a b c GRCh38: Ensembl release 89: ENSG00000055609 –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, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (April 2000)."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" .DNA Research .7 (2):143– 150.doi :10.1093/dnares/7.2.143 PMID 10819331 . ^a b "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3" .^a b Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, et al. (January 2003)."Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins" .Molecular and Cellular Biology .23 (1):140– 149.doi :10.1128/MCB.23.1.140-149.2003 .PMC 140670 PMID 12482968 . ^ Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, et al. (July 2012)."Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability" .American Journal of Human Genetics .91 (1):73– 82.doi :10.1016/j.ajhg.2012.05.003 .PMC 3397275 PMID 22726846 . Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002)."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 . Bonaldo MF, Lennon G, Soares MB (September 1996)."Normalization and subtraction: two approaches to facilitate gene discovery" .Genome Research .6 (9):791– 806.doi :10.1101/gr.6.9.791 PMID 8889548 . Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998)."Toward a complete human genome sequence" .Genome Research .8 (11):1097– 1108.doi :10.1101/gr.8.11.1097 PMID 9847074 . Tan YC, Chow VT (2002). "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".Cancer Detection and Prevention .25 (5):454– 469.PMID 11718452 . Ruault M, Brun ME, Ventura M, Roizès G, De Sario A (February 2002). "MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia".Gene .284 (1– 2):73– 81.doi :10.1016/S0378-1119(02)00392-X .PMID 11891048 . Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, et al. (January 2003)."Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins" .Molecular and Cellular Biology .23 (1):140– 149.doi :10.1128/MCB.23.1.140-149.2003 .PMC 140670 PMID 12482968 . Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, et al. (September 2004)."Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions" .Genome Research .14 (9):1711– 1718.doi :10.1101/gr.2435604 .PMC 515316 PMID 15342556 . Fukuda K, Sakakura C, Miyagawa K, Kuriu Y, Kin S, Nakase Y, et al. (October 2004)."Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation" .British Journal of Cancer .91 (8):1543– 1550.doi :10.1038/sj.bjc.6602187 .PMC 2409931 PMID 15365572 . Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006)."Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" .Genome Research .16 (1):55– 65.doi :10.1101/gr.4039406 .PMC 1356129 PMID 16344560 . Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, et al. (August 2006)."Substrate and functional diversity of lysine acetylation revealed by a proteomics survey" .Molecular Cell .23 (4):607– 618.doi :10.1016/j.molcel.2006.06.026 PMID 16916647 . Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 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 . Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, et al. (July 2007)."PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex" .The Journal of Biological Chemistry .282 (28):20395– 20406.doi :10.1074/jbc.M701574200 PMC 2729684 PMID 17500065 . Ahn CH, Yoo NJ, Lee JW, Lee SH, Lee SH (July 2007). "Absence of MLL3 mutations in colorectal carcinomas of Korean patients".APMIS .115 (7):859– 860.doi :10.1111/j.1600-0463.2007.apm_696.x .PMID 17614854 .S2CID 2468083 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4)β-Scaffold factors with minor groove contacts
(0) Other transcription factors
