KMT2C

KMT2C
Identifiers
AliasesKMT2C, HALR, MLL3, lysine methyltransferase 2C, KLEFS2
External IDsOMIM: 606833; MGI: 2444959; GeneCards: KMT2C
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.1.1.364↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 Mbn/a
PubMed 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]

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. ^ 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.

Further reading

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

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