Biology:KMT2C
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
Clinical significance
Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.[4]
References
- ↑ "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. Apr 2000. doi:10.1093/dnares/7.2.143. PMID 10819331.
- ↑ 2.0 2.1 "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=58508.
- ↑ 3.0 3.1 "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. Jan 2003. doi:10.1128/MCB.23.1.140-149.2003. PMID 12482968.
- ↑ "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability". American Journal of Human Genetics 91 (1): 73–82. July 2012. doi:10.1016/j.ajhg.2012.05.003. PMID 22726846.
Further reading
- "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research 9 (3): 99–106. Jun 2002. doi:10.1093/dnares/9.3.99. PMID 12168954.
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. Sep 1996. doi:10.1101/gr.6.9.791. PMID 8889548.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (Nov 1998). "Toward a complete human genome sequence". Genome Research 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- "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. 2002. PMID 11718452.
- "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. Feb 2002. doi:10.1016/S0378-1119(02)00392-X. PMID 11891048.
- "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. Jan 2003. doi:10.1128/MCB.23.1.140-149.2003. PMID 12482968.
- "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research 14 (9): 1711–8. Sep 2004. doi:10.1101/gr.2435604. PMID 15342556.
- "Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation". British Journal of Cancer 91 (8): 1543–50. Oct 2004. doi:10.1038/sj.bjc.6602187. PMID 15365572.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. Jan 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "Substrate and functional diversity of lysine acetylation revealed by a proteomics survey". Molecular Cell 23 (4): 607–18. Aug 2006. doi:10.1016/j.molcel.2006.06.026. PMID 16916647.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. Nov 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
- "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex". The Journal of Biological Chemistry 282 (28): 20395–406. Jul 2007. doi:10.1074/jbc.M701574200. PMID 17500065.
- "Absence of MLL3 mutations in colorectal carcinomas of Korean patients". APMIS 115 (7): 859–60. Jul 2007. 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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