KMT2A

KMT2A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2AGH, 2J2S, 2JYI, 2KKF, 2KU7, 2KYU, 2LXS, 2LXT, 2MTN, 2W5Y, 2W5Z, 3EG6, 3EMH, 3LQI, 3LQJ, 3P4F, 3U85, 3U88, 4ESG, 4GQ6, 4NW3, 5F6L, 5F5E
Identifiers
Aliases	KMT2A, ALL-1, CXXC7, HRX, HTRX1, MLL, MLL/GAS7, MLL1, MLL1A, TET1-MLL, TRX1, WDSTS, MLL-AF9, lysine methyltransferase 2A, Histone-lysine N-methyltransferase HRX, ALL1, HTRX
External IDs	MGI: 96995; HomoloGene: 4338; GeneCards: KMT2A; OMA:KMT2A - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	118,526,832 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	44,792,594 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; epithelium of colon; ; sural nerve; ; ganglionic eminence; ; Achilles tendon; ; Brodmann area 23; ; bone marrow cells; ; cerebellar vermis; ; lateral nuclear group of thalamus; ; external globus pallidus;
	Top expressed in
	tail of embryo; ; genital tubercle; ; dorsomedial hypothalamic nucleus; ; Rostral migratory stream; ; CA3 field; ; cingulate gyrus; ; central gray substance of midbrain; ; habenula; ; neural layer of retina; ; entorhinal cortex;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	methyltransferase activity; transferase activity; DNA binding; protein homodimerization activity; minor groove of adenine-thymine-rich DNA binding; DNA-binding transcription factor activity; zinc ion binding; chromatin binding; metal ion binding; core promoter sequence-specific DNA binding; protein binding; unmethylated CpG binding; lysine-acetylated histone binding; identical protein binding; histone-lysine N-methyltransferase activity; histone methyltransferase activity (H3-K4 specific); DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Cellular component	nucleoplasm; nucleus; histone methyltransferase complex; cytosol; MLL1 complex;
Biological process	visual learning; response to potassium ion; regulation of transcription, DNA-templated; cognition; positive regulation of transporter activity; positive regulation of cellular response to drug; response to light stimulus; rhythmic process; regulation of short-term neuronal synaptic plasticity; histone H3-K4 trimethylation; membrane depolarization; regulation of histone H3-K4 methylation; regulation of histone H3-K9 acetylation; transcription by RNA polymerase II; post-embryonic development; peptidyl-lysine monomethylation; spleen development; circadian regulation of gene expression; regulation of histone H3-K14 acetylation; transcription, DNA-templated; regulation of histone H3-K27 acetylation; positive regulation of transcription, DNA-templated; DNA methylation; histone H3-K4 methylation; methylation; positive regulation of histone H3-K4 methylation; exploration behavior; embryonic hemopoiesis; histone H3-K4 dimethylation; regulation of gene expression; homeostasis of number of cells within a tissue; histone H4-K16 acetylation; definitive hemopoiesis; anterior/posterior pattern specification; negative regulation of cell population proliferation; apoptotic process; regulation of megakaryocyte differentiation; regulation of hematopoietic stem cell differentiation; chromatin organization; positive regulation of transcription by RNA polymerase II; protein-containing complex assembly; negative regulation of DNA methylation;
	Sources:Amigo / QuickGO
Orthologs
	4297
	214162
	ENSG00000118058
	ENSMUSG00000002028
	Q03164
	P55200
	NM_001197104; NM_005933; NM_024891
	NM_001081049; NM_001357549
	NP_001184033; NP_005924
	NP_001344478
	Wikidata
View/Edit Human	View/Edit Mouse

Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia 1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A gene.^[5]

MLL1 is a histone methyltransferase deemed a positive global regulator of gene transcription. This protein belongs to the group of histone-modifying enzymes comprising transactivation domain 9aaTAD^[6] and is involved in the epigenetic maintenance of transcriptional memory. Its role as an epigenetic regulator of neuronal function is an ongoing area of research.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000118058 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000002028 – 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.
^ Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R, Patel Y, Harden A, et al. (December 1991). "Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias". Proceedings of the National Academy of Sciences of the United States of America. 88 (23): 10735–9. doi:10.1073/pnas.88.23.10735. PMC 53005. PMID 1720549.
^ Goto NK, Zor T, Martinez-Yamout M, Dyson HJ, Wright PE (November 2002). "Cooperativity in transcription factor binding to the coactivator CREB-binding protein (CBP). The mixed lineage leukemia protein (MLL) activation domain binds to an allosteric site on the KIX domain" (PDF). The Journal of Biological Chemistry. 277 (45): 43168–74. doi:10.1074/jbc.M207660200. PMID 12205094. S2CID 30354764.; Prasad R, Yano T, Sorio C, Nakamura T, Rallapalli R, Gu Y, et al. (December 1995). "Domains with transcriptional regulatory activity within the ALL1 and AF4 proteins involved in acute leukemia". Proceedings of the National Academy of Sciences of the United States of America. 92 (26): 12160–4. Bibcode:1995PNAS...9212160P. doi:10.1073/pnas.92.26.12160. PMC 40316. PMID 8618864.; Ernst P, Wang J, Huang M, Goodman RH, Korsmeyer SJ (April 2001). "MLL and CREB bind cooperatively to the nuclear coactivator CREB-binding protein". Molecular and Cellular Biology. 21 (7): 2249–58. doi:10.1128/MCB.21.7.2249-2258.2001. PMC 86859. PMID 11259575.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000118058 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000002028 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1720549-5] Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R, Patel Y, Harden A, et al. (December 1991). "Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias". Proceedings of the National Academy of Sciences of the United States of America. 88 (23): 10735–9. doi:10.1073/pnas.88.23.10735. PMC 53005. PMID 1720549.

[9aaTAD-6] Goto NK, Zor T, Martinez-Yamout M, Dyson HJ, Wright PE (November 2002). "Cooperativity in transcription factor binding to the coactivator CREB-binding protein (CBP). The mixed lineage leukemia protein (MLL) activation domain binds to an allosteric site on the KIX domain" (PDF). The Journal of Biological Chemistry. 277 (45): 43168–74. doi:10.1074/jbc.M207660200. PMID 12205094. S2CID 30354764.; Prasad R, Yano T, Sorio C, Nakamura T, Rallapalli R, Gu Y, et al. (December 1995). "Domains with transcriptional regulatory activity within the ALL1 and AF4 proteins involved in acute leukemia". Proceedings of the National Academy of Sciences of the United States of America. 92 (26): 12160–4. Bibcode:1995PNAS...9212160P. doi:10.1073/pnas.92.26.12160. PMC 40316. PMID 8618864.; Ernst P, Wang J, Huang M, Goodman RH, Korsmeyer SJ (April 2001). "MLL and CREB bind cooperatively to the nuclear coactivator CREB-binding protein". Molecular and Cellular Biology. 21 (7): 2249–58. doi:10.1128/MCB.21.7.2249-2258.2001. PMC 86859. PMID 11259575.

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