DISEASES

Disease-gene associations mined from literature

Literature associating EHMT1 and Kleefstra syndrome

EHMT1 [ENSP00000417980]

Euchromatic histone-lysine N-methyltransferase 1; Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non- histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53; Belongs to the class V-like SAM-binding methyltransferase superfamily.

Synonyms:  EHMT1,  EHMT1p,  hEHMT1,  A0PJE0,  FP13812 ...

Linkouts:  STRING  Pharos  UniProt  OMIM