KMT2C

KMT2C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YSM, 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] Band 7q36.1 Start 152,134,922 bp [1] End 152,436,644 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte caput epididymis skin of arm pancreatic epithelial cell corpus epididymis cardiac muscle tissue of right atrium Achilles tendon sural nerve bone marrow cells seminal vesicula n/a More reference expression data BioGPS n/a
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 58508 231051 Ensembl ENSG00000055609 n/a UniProt Q8NEZ4 Q8BRH4 RefSeq (mRNA) NM_021230 NM_170606 NM_001081383 NM_177283 RefSeq (protein) NP_733751 n/a Location (UCSC) Chr 7: 152.13 – 152.44 Mb n/a PubMed search [2] [3]
Wikidata
View/Edit Human View/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]}

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. ^[5]

Interactions

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

Clinical significance

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

References

1. 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. "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".
6. 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.

Further reading

• 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.

External links

• 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.