EHMT1 (NM_024757) - euchromatic histone lysine methyltransferase 1

Histone-Lysine N-Methyltransferase Ehmt1 Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of EHMT1 protein. View all 2 isoforms
EHMT1: histone-lysine N-methyltransferase EHMT1 isoform 1
Description:

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].

Strand
+
Chromosome
9
Protein
1298 residues
All mutations
225
PTM sites
32
CDS
140,513,480 - 140,729,405
Transcription
140,513,443 - 140,730,578
47.69% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 79813
Uniprot
Ensembl