Immunogen
Purified recombinant fragment of EHMT1 expressed in E. Coli.
Specificity
EHMT1 Monoclonal Antibody detects endogenous levels of EHMT1 protein.
Formulation
Purified antibody in PBS containing 0.03% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
Purification process (Immunogen)
Affinity purification
Background
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014],
Function
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 histo
Protein name
Histone-lysine N-methyltransferase, H3 lysine-9 specific 5
Other name
EHMT1; EUHMTASE1; GLP; KIAA1876; KMT1D; Histone-lysine N-methyltransferase EHMT1; Euchromatic histone-lysine N-methyltransferase 1; Eu-HMTase1; G9a-like protein 1; GLP; GLP1; Histone H3-K9 methyltransferase 5; H3-K9-HMTase 5; Lysine N-methy
Fields
>>Lysine degradation;>>Metabolic pathways;>>Longevity regulating pathway
Human protein sequence Database
Q9H9B1
Mouse protein sequence database
Q5DW34
Rat protein sequence database
Cellular localization
Nucleus. Chromosome. Associates with euchromatic regions.
Tissue expression
Widely expressed.
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