histone-lysine N-methyltransferase 2A; lysine N-methyltransferase 2A; ALL-1; CXXC-type zinc finger protein 7; myeloid/lymphoid or mixed-lineage leukemia protein 1; trithorax-like protein; zinc finger protein HRX; contains: MLL cleavage product N320; N-terminal cleavage product of 320 kDa; p320; contains: MLL cleavage product C180; C-terminal cleavage product of 180 kD; p180 (KMT2A, ALL1, CXXC7, HRX, HTRX, MLL, MLL1)

Function

• histone methyltransferase
• methylates Lys-4 of histone H3
• histone H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation
• promotes PPP1R15A-induced apoptosis
• interacts with SBF1 & PPP1R15A
• component of the MLL complex

S-adenosyl-L-methionine + histone L-lysine <--> S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine

Structure

• belongs to the histone-lysine methyltransferase family, TRX/MLL subfamily
• contains 3 A.T hook DNA-binding domains
• contains 1 bromo domain
• contains 1 CXXC-type Zn+2 finger
• contains 3 PHD-type Zn+2 fingers
• contains 1 post-SET domain
• contains 1 SET domain

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

heart, lung, brain & T- & B-lymphocytes

Pathology

• mutations in KMT2A associated with Wiedemann-Steiner syndrome
• chromosomal aberrations involving MLL are a cause of acute leukemias translocation t(1;11)(q21;q23) with MLLT11/AF1Q translocation t(3;11)(p21;q23) with NCKIPSD/AF3p21 translocation t(3,11)(q25,q23) with GMPS translocation t(4;11)(q21;q23) with AFF1/MLLT2/AF4 insertion ins (5;11)(q31;q13q23) with AFF4/AF5Q31 translocation t(5;11)(q12;q23) with AF5-alpha/CENPK translocation t(6;11)(q27;q23) with MLLT4/AF6 translocation t(9;11)(p22;q23) with MLLT3/AF9 translocation t(10;11)(p11.2;q23) with ABI1 translocation t(10;11)(p12;q23) with MLLT10/AF10 translocation t(11;15)(q23;q14) with CASC5 & ZFYVE19 translocation t(11;17)(q23;q21) with MLLT6/AF17 translocation t(11;19)(q23;p13.3) with ELL translocation t(11;19)(q23;p13.3) with MLLT1/ENL translocation t(11;19)(q23;p23) with GAS7 translocation t(X;11)(q13;q23) with FOXO4/AFX1 translocation t(3;11)(q28;q23) with LPP translocation t(10;11)(q22;q23) with TET1 translocation t(9;11)(q34;q23) with DAB2IP translocation t(4;11)(p12;q23) with FRYL
• fusion proteins MLL-MLLT1, MLL-MLLT3 & MLL-ELL interact with PPP1R15A &, on the contrary to unfused MLL, inhibit PPP1R15A- induced apoptosis
• chromosomal translocation t(4;11)(q21;q23) involving MLL with SEPT11 may be a cause of chronic neutrophilic leukemia

More general terms

• histone N-methyltransferase
• DNA-binding protein
• zinc finger protein
• proto oncogene protein
• transcription factor (TF)
• phosphoprotein

Component of

• MLL complex

Database

• UniProt: http://www.uniprot.org/uniprot/Q03164.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4297
• OMIM: https://mirror.omim.org/entry/159555
• OMIM: https://mirror.omim.org/entry/159556
• OMIM: https://mirror.omim.org/entry/159557
• OMIM: https://mirror.omim.org/entry/159558
• OMIM: https://mirror.omim.org/entry/159559
• OMIM: https://mirror.omim.org/entry/600328
• OMIM: https://mirror.omim.org/entry/300033
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4297
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4298
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4299
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4300
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4301
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4302
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4303