KMT2D_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)

Gene names: KMT2D , ALR, MLL2, MLL4
Protein names and data: KMT2D_HUMAN , Histone-lysine N-methyltransferase 2D; Lysine N-methyltransferase 2D; 2.1.1.43 , ALL1-related protein; Myeloid/lymphoid or mixed-lineage leukemia protein 2 Lenght: 5537 a.a.
Mass: 593389 Da
fasta formatted sequence

Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.
Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Disease:
Cellular location: Nucleus (Probable).
Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.

Genetic variants

Database cross-references

UniProt: O14686
Ensembl: ENST00000301067
MIM: 147920
MIM: 602113
neXtProt: NX_O14686
Antibodypedia: O14686 (may not find the protein thus also not any antibody)
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