Human Gene EHMT1 (uc011mfc.2) Description and Page Index
Description: Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA. RefSeq Summary (NM_024757): 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]. Transcript (Including UTRs) Position: hg19 chr9:140,513,444-140,730,578 Size: 217,135 Total Exon Count: 27 Strand: + Coding Region Position: hg19 chr9:140,513,481-140,729,405 Size: 215,925 Coding Exon Count: 27
ID:EHMT1_HUMAN DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase EHMT1; EC=2.1.1.-; EC=126.96.36.199; AltName: Full=Euchromatic histone-lysine N-methyltransferase 1; Short=Eu-HMTase1; AltName: Full=G9a-like protein 1; Short=GLP; Short=GLP1; AltName: Full=Histone H3-K9 methyltransferase 5; Short=H3-K9-HMTase 5; AltName: Full=Lysine N-methyltransferase 1D; FUNCTION: 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. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. ENZYME REGULATION: Methyltransferase activity is inhibited by BIX- 01294. Efficiently inhibited by compound E72, a BIX-01294 derivative in which the diazepane ring and the benzyl are replaced with a 3-dimethylaminopropyl and a 5-aminopentyl group at sites B and C, respectively. SUBUNIT: Heterodimer; heterodimerizes with EHMT2/G9a. Interacts with WIZ and EHMT2. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Interacts (via ANK repeats) with RELA (when monomethylated at 'Lys-310'). Interacts with MPHOSPH8. INTERACTION: Q04206:RELA; NbExp=3; IntAct=EBI-766087, EBI-73886; Q04207:Rela (xeno); NbExp=5; IntAct=EBI-766087, EBI-644400; SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Associates with euchromatic regions. TISSUE SPECIFICITY: Widely expressed. DOMAIN: The ANK repeats recognize and bind RELA subunit of NF- kappa-B, when RELA is monomethylated at 'Lys-310' (By similarity). They also specifically recognize and bind H3K9me1 and H3K9me2. DOMAIN: The SET domain mediates interaction with WIZ. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. 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. SIMILARITY: Belongs to the histone-lysine methyltransferase family. SIMILARITY: Contains 8 ANK repeats. SIMILARITY: Contains 1 pre-SET domain. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=CAD28534.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAH71077.1; Type=Erroneous gene model prediction; Sequence=CAI17354.1; Type=Erroneous gene model prediction;
Genetic Association Studies of Complex Diseases and Disorders
overall effect Nasim Mavaddat , et al. Cancer epidemiology, biomarkers & prevention 2009 18(1):255-9, Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer., Cancer epidemiology, biomarkers & prevention 2009 18(1):255-9.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H9B1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.