KMT2C (original) (raw)

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Protein-coding gene in the species Homo sapiens

KMT2C
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2YSM, 2YUK, 3UVL, 4ERY, 5F59, 5F6K
Identifiers
Aliases	KMT2C, HALR, MLL3, lysine methyltransferase 2C, KLEFS2
External IDs	OMIM: 606833; MGI: 2444959; HomoloGene: 46480; GeneCards: KMT2C; OMA:KMT2C - orthologs
Gene location (Human)Chr.Chromosome 7 (human)[1]Band7q36.1Start152,134,922 bp[1]End152,436,644 bp[1]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inoocytecaput epididymisskin of armpancreatic epithelial cellcorpus epididymiscardiac muscle tissue of right atriumAchilles tendonsural nervebone marrow cellsseminal vesiculan/aMore reference expression dataBioGPSn/a
Gene ontologyMolecular function methyltransferase activity transferase activity DNA binding protein binding histone methyltransferase activity (H3-K4 specific) metal ion binding acyltransferase activity histone-lysine N-methyltransferase activity RNA binding transcription coactivator activity histone binding Cellular component MLL3/4 complex nucleus nucleoplasm histone methyltransferase complex Biological process histone lysine methylation methylation regulation of transcription, DNA-templated transcription, DNA-templated histone H3-K4 methylation regulation of megakaryocyte differentiation chromatin organization positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez58508231051EnsemblENSG00000055609n/aUniProtQ8NEZ4Q8BRH4RefSeq (mRNA)NM_021230NM_170606NM_001081383NM_177283RefSeq (protein)NP_733751n/aLocation (UCSC)Chr 7: 152.13 – 152.44 Mbn/aPubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[4][5]

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 fingers, 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.[5]

MLL3 has been shown to interact with NCOA6[6] and RBBP5.[6]

Clinical significance

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Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.[7]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000055609 – Ensembl, May 2017
2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ 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.
5. ^ a b "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".
6. ^ 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.
7. ^ 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.

• MLL3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.