KMT2C

KMT2C
Identifiers
Aliases	KMT2C, HALR, MLL3, lysine methyltransferase 2C, KLEFS2
External IDs	OMIM: 606833; MGI: 2444959; GeneCards: KMT2C
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2YSM, 2YUK, 3UVL, 4ERY, 5F59, 5F6K
Enzyme activity
Gene location (Human)
Chr.	Chromosome 7 (human)
End	152,436,644 bp
RNA expression pattern
	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 cell; ; seminal vesicula;
	n/a
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	58508
	231051
	ENSG00000055609
	n/a
	Q8NEZ4
	Q8BRH4
	NM_021230; NM_170606
	NM_001081383; NM_177283
	NP_733751
	n/a
	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.

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.

Interactions

MLL3 has been shown to interact with NCOA6 and RBBP5.

Clinical significance

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

References

1 2 3 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.
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, 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 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.

[pmid10819331-4] 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.

[entrez-5] 1 2 "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".

[pmid12482968-6] 1 2 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.

[pmid22726846-7] 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.