NP_005924.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
432,052 Da
NCBI Official Full Name
histone-lysine N-methyltransferase 2A isoform 2
NCBI Official Synonym Full Names
lysine (K)-specific methyltransferase 2A
NCBI Official Synonym Symbols
HRX; MLL; MLL1; TRX1; ALL-1; CXXC7; HTRX1; MLL1A; WDSTS; MLL/GAS7; TET1-MLL [Similar Products]
NCBI Protein Information
histone-lysine N-methyltransferase 2A; trithorax-like protein; CDK6/MLL fusion protein; MLL/GAS7 fusion protein; MLL/GMPS fusion protein; zinc finger protein HRX; mixed lineage leukemia 1; MLL-AF4 der(11) fusion protein; CXXC-type zinc finger protein 7; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
UniProt Protein Name
Histone-lysine N-methyltransferase 2A
UniProt Synonym Protein Names
ALL-1; CXXC-type zinc finger protein 7; Myeloid/lymphoid or mixed-lineage leukemia; Myeloid/lymphoid or mixed-lineage leukemia protein 1; Trithorax-like protein; Zinc finger protein HRXCleaved into the following 2 chains:MLL cleavage product N320Alternative name(s):N-terminal cleavage product of 320 kDa; p320
UniProt Synonym Gene Names
ALL1; CXXC7; HRX; HTRX; MLL; MLL1; TRX1; Lysine N-methyltransferase 2A; p320; p180 [Similar Products]
UniProt Entry Name
KMT2A_HUMAN
NCBI Summary for KMT2A
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
UniProt Comments for KMT2A
MLL: Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. 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; t(11;15)(q23;q14) with CASC5 and 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 and MLL-ELL interact with PPP1R15A and, on the contrary to unfused MLL, inhibit PPP1R15A-induced apoptosis. A chromosomal aberration involving MLL may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with SEPT11. Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Oncoprotein; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Cell cycle regulation; Transcription factor
Chromosomal Location of Human Ortholog: 11q23
Cellular Component: nucleoplasm; histone methyltransferase complex; cytoplasm; nucleus
Molecular Function: identical protein binding; protein binding; protein homodimerization activity; unmethylated CpG binding; AT DNA binding; zinc ion binding; histone lysine N-methyltransferase activity (H3-K4 specific); chromatin binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; establishment and/or maintenance of chromatin architecture; apoptosis; embryonic hemopoiesis; positive regulation of transcription, DNA-dependent; histone H3-K4 methylation; positive regulation of transporter activity; positive regulation of histone H3-K4 methylation; anterior/posterior pattern formation; negative regulation of cell proliferation; DNA methylation; positive regulation of transcription from RNA polymerase II promoter; protein complex assembly; circadian regulation of gene expression
Disease: Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
Research Articles on KMT2A
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-KMT2A antibody
Pathways associated with anti-KMT2A antibody
Diseases associated with anti-KMT2A antibody
Disease Name |
Pubmed Publications |
Leukemia Antibodies |
>11 publications with KMT2A and Leukemia |
Leukemia, Myeloid Antibodies |
>5 publications with KMT2A and Leukemia, Myeloid |
Leukemia, Lymphoid Antibodies |
>5 publications with KMT2A and Leukemia, Lymphoid |
Leukemia, Myeloid, Acute Antibodies |
>3 publications with KMT2A and Leukemia, Myeloid, Acute |
Prostatic Diseases Antibodies |
>1 publications with KMT2A and Prostatic Diseases |
Leukemia, Monocytic, Acute Antibodies |
>1 publications with KMT2A and Leukemia, Monocytic, Acute |
Adenocarcinoma Antibodies |
>1 publications with KMT2A and Adenocarcinoma |
Organs/Tissues associated with anti-KMT2A antibody
|