EHMT1 (NM_024757) - euchromatic histone lysine methyltransferase 1
Histone-Lysine N-Methyltransferase Ehmt1 Isoform 1
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Protein
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Protein summary
The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones 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, Aug 2017].
- Strand
- +
- Chromosome
- 9
- Protein
- 1298 residues
- All mutations
- 379
- PTM sites
- 51
- CDS
- 140,513,480 - 140,729,405
- Transcription
- 140,513,443 - 140,730,578
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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