功能： alternative products:Experimental confirmation may be lacking for some isoforms,catalytic activity:S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.,disease:Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome) [MIM:610253]. Common features seen in these patients are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems.,domain:The SET domain mediates interaction with WIZ.,function:Histone methyltransferase. Methylates 'Lys-9' of histone H3 (in vitro). H3 'Lys-9' methylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. 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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,sequence caution:Intron retention.,similarity:Belongs to the histone-lysine methyltransferase family.,similarity:Contains 1 pre-SET domain.,similarity:Contains 1 SET domain.,similarity:Contains 8 ANK repeats.,subcellular location:Associates with euchromatic regions.,subunit:Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Interacts with WIZ and EHMT2.,tissue specificity:Widely expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Chromosome. Associates with euchromatic regions.
组织表达： Widely expressed.
科研货号： PLA004765
EHMT1 Monoclonal Antibody
Catalog NoPLA004765
Product information
发货日期： 7
基因名称： EHMT1
蛋白名称： Histone-lysine N-methyltransferase, H3 lysine-9 specific 5
功能： alternative products:Experimental confirmation may be lacking for some isoforms,catalytic activity:S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.,disease:Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome) [MIM:610253]. Common features seen in these patients are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems.,domain:The SET domain mediates interaction with WIZ.,function:Histone methyltransferase. Methylates 'Lys-9' of histone H3 (in vitro). H3 'Lys-9' methylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. 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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,sequence caution:Intron retention.,similarity:Belongs to the histone-lysine methyltransferase family.,similarity:Contains 1 pre-SET domain.,similarity:Contains 1 SET domain.,similarity:Contains 8 ANK repeats.,subcellular location:Associates with euchromatic regions.,subunit:Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Interacts with WIZ and EHMT2.,tissue specificity:Widely expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Chromosome. Associates with euchromatic regions.
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