Human Gene EHMT1 (ENST00000637161.1) Description and Page Index
  Description: euchromatic histone lysine methyltransferase 1 (from HGNC EHMT1)
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].
Gencode Transcript: ENST00000637161.1
Gencode Gene: ENSG00000181090.21
Transcript (Including UTRs)
   Position: hg38 chr9:137,675,186-137,836,100 Size: 160,915 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg38 chr9:137,716,634-137,834,953 Size: 118,320 Coding Exon Count: 25 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:137,675,186-137,836,100)mRNA (may differ from genome)Protein (1267 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2PubMedUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: EHMT1
Diseases sorted by gene-association score: kleefstra syndrome* (1360), autism spectrum disorder* (406), polymicrogyria* (400), chromosome 9q deletion* (400), kleefstra syndrome due to a point mutation* (350), polymicrogyria, bilateral temporooccipital* (283), kleefstra syndrome due to 9q34 microdeletion* (25), deafness, autosomal recessive 79 (9), deafness, autosomal recessive 33 (9), hypoplastic left heart syndrome (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.04 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 268.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.3098-0.238 Picture PostScript Text
3' UTR -403.701147-0.352 Picture PostScript Text

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.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  BC047504 - Homo sapiens euchromatic histone-lysine N-methyltransferase 1, mRNA (cDNA clone MGC:50973 IMAGE:5298029), complete cds.
BC025772 - Homo sapiens euchromatic histone-lysine N-methyltransferase 1, mRNA (cDNA clone IMAGE:5209740), partial cds.
AK022941 - Homo sapiens cDNA FLJ12879 fis, clone NT2RP2003857, weakly similar to MYOTROPHIN.
AY083210 - Homo sapiens euchromatic histone methyltransferase 1 mRNA, complete cds.
AK309602 - Homo sapiens cDNA, FLJ99643.
AB028932 - Homo sapiens mRNA for GLP1, complete cds.
AB058779 - Homo sapiens mRNA for KIAA1876 protein, partial cds.
BC011608 - Homo sapiens euchromatic histone-lysine N-methyltransferase 1, mRNA (cDNA clone IMAGE:3161748), partial cds.
AL713772 - Homo sapiens mRNA; cDNA DKFZp667G072 (from clone DKFZp667G072).
AL832865 - Homo sapiens mRNA; cDNA DKFZp667M072 (from clone DKFZp667M072).
AF461894 - Homo sapiens FP13812 mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00310 - Lysine degradation

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1B0GV09, AY083210, uc286cks.1
UCSC ID: ENST00000637161.1
RefSeq Accession: NM_024757
CCDS: CCDS7050.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EHMT1:
kleefstra (Kleefstra Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.