KMT2C
| Lysine (K)-specific methyltransferase 2C | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | KMT2C ; HALR; MLL3 | ||||||||||||
| External IDs | OMIM: 606833 MGI: 2444959 HomoloGene: 46480 GeneCards: KMT2C Gene | ||||||||||||
| EC number | 2.1.1.43 | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 58508 | 231051 | |||||||||||
| Ensembl | ENSG00000055609 | ENSMUSG00000038056 | |||||||||||
| UniProt | Q8NEZ4 | Q8BRH4 | |||||||||||
| RefSeq (mRNA) | NM_021230 | NM_001081383 | |||||||||||
| RefSeq (protein) | NP_733751 | NP_001074852 | |||||||||||
| Location (UCSC) |
Chr 7: 152.13 – 152.44 Mb |
Chr 5: 25.27 – 25.5 Mb | |||||||||||
| PubMed search | |||||||||||||
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.[1][2]
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 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.[2]
Interactions
MLL3 has been shown to interact with NCOA6[3] and RBBP5.[3]
References
- ↑ Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (Apr 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): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.
- 1 2 "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".
- 1 2 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 (Jan 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): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.
Further reading
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (Jun 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 (Sep 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.
- "Toward a complete human genome sequence". Genome Research 8 (11): 1097–108. Nov 1998. 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): 454–69. PMID 11718452.
- Ruault M, Brun ME, Ventura M, Roizès G, De Sario A (Feb 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, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW (Jan 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): 140–9. 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, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Fukuda K, Sakakura C, Miyagawa K, Kuriu Y, Kin S, Nakase Y, Hagiwara A, Mitsufuji S, Okazaki Y, Hayashizaki Y, Yamagishi H (Oct 2004). "Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation". British Journal of Cancer 91 (8): 1543–50. doi:10.1038/sj.bjc.6602187. PMC 2409931. PMID 15365572.
- 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 (Jan 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, Cheng T, Kho Y, Xiao H, Xiao L, Grishin NV, White M, Yang XJ, Zhao Y (Aug 2006). "Substrate and functional diversity of lysine acetylation revealed by a proteomics survey". Molecular Cell 23 (4): 607–18. doi:10.1016/j.molcel.2006.06.026. PMID 16916647.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K (Jul 2007). "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex". The Journal of Biological Chemistry 282 (28): 20395–406. doi:10.1074/jbc.M701574200. PMC 2729684. PMID 17500065.
- Ahn CH, Yoo NJ, Lee JW, Lee SH, Lee SH (Jul 2007). "Absence of MLL3 mutations in colorectal carcinomas of Korean patients". APMIS 115 (7): 859–60. doi:10.1111/j.1600-0463.2007.apm_696.x. PMID 17614854.
External links
- MLL3 protein, human at the US 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.
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