Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EHMT1 (euchromatic histone lysine methyltransferase 1)

Identity

Alias (NCBI)EHMT1-IT1
EUHMTASE1
Eu-HMTase1
FP13812
GLP
GLP1
KLEFS1
KMT1D
HGNC (Hugo) EHMT1
HGNC Alias symbEu-HMTase1
FLJ12879
KIAA1876
bA188C12.1
KMT1D
FLJ40292
HGNC Previous nameEHMT1-IT1
HGNC Previous nameeuchromatic histone methyltransferase 1
 EHMT1 intronic transcript 1
LocusID (NCBI) 79813
Atlas_Id 51162
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 137619005 and ends at 137836126 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AK3 (9p24.1) / EHMT1 (9q34.3)BRE (2p23.2) / EHMT1 (9q34.3)EHMT1 (9q34.3) / BRE (2p23.2)
EHMT1 (9q34.3) / CACNA1B (9q34.3)EHMT1 (9q34.3) / COL5A1 (9q34.3)EHMT1 (9q34.3) / EHMT1 (9q34.3)
EHMT1 (9q34.3) / GRIN1 (9q34.3)EHMT1 (9q34.3) / LOC100507412 (-)EHMT1 (9q34.3) / PPP1R37 (19q13.32)
SNAP25 (20p12.2) / EHMT1 (9q34.3)EHMT1 9q34.3 / GRIN1 9q34.3EHMT1 9q34.3 LRRC68

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EHMT1   24650
Cards
Entrez_Gene (NCBI)EHMT1    euchromatic histone lysine methyltransferase 1
AliasesEHMT1-IT1; EUHMTASE1; Eu-HMTase1; FP13812; 
GLP; GLP1; KLEFS1; KMT1D
GeneCards (Weizmann)EHMT1
Ensembl hg19 (Hinxton)ENSG00000181090 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181090 [Gene_View]  ENSG00000181090 [Sequence]  chr9:137619005-137836126 [Contig_View]  EHMT1 [Vega]
ICGC DataPortalENSG00000181090
TCGA cBioPortalEHMT1
AceView (NCBI)EHMT1
Genatlas (Paris)EHMT1
SOURCE (Princeton)EHMT1
Genetics Home Reference (NIH)EHMT1
Genomic and cartography
GoldenPath hg38 (UCSC)EHMT1  -     chr9:137619005-137836126 +  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHMT1  -     9q34.3   [Description]    (hg19-Feb_2009)
GoldenPathEHMT1 - 9q34.3 [CytoView hg19]  EHMT1 - 9q34.3 [CytoView hg38]
ImmunoBaseENSG00000181090
genome Data Viewer NCBIEHMT1 [Mapview hg19]  
OMIM607001   610253   
Gene and transcription
Genbank (Entrez)AB028932 AB058779 AF461894 AK022941 AK097611
RefSeq transcript (Entrez)NM_001039765 NM_001145527 NM_001354259 NM_001354263 NM_001354611 NM_001354612 NM_024757
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHMT1
Alternative Splicing GalleryENSG00000181090
Gene ExpressionEHMT1 [ NCBI-GEO ]   EHMT1 [ EBI - ARRAY_EXPRESS ]   EHMT1 [ SEEK ]   EHMT1 [ MEM ]
Gene Expression Viewer (FireBrowse)EHMT1 [ Firebrowse - Broad ]
GenevisibleExpression of EHMT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79813
GTEX Portal (Tissue expression)EHMT1
Human Protein AtlasENSG00000181090-EHMT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9B1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H9B1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9B1
Splice isoforms : SwissVarQ9H9B1
PhosPhoSitePlusQ9H9B1
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    PRE_SET (PS50867)    SET (PS50280)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    EHMT1    EHMT1/EHMT2    Pre-SET_dom    SET_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Pre-SET (PF05033)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam12796    pfam05033    pfam00856   
Domain families : Smart (EMBL)ANK (SM00248)  PreSET (SM00468)  SET (SM00317)  
Conserved Domain (NCBI)EHMT1
Blocks (Seattle)EHMT1
PDB (RSDB)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
PDB Europe2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
PDB (PDBSum)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
PDB (IMB)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
Structural Biology KnowledgeBase2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
SCOP (Structural Classification of Proteins)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
CATH (Classification of proteins structures)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51    5TTG    5TUZ    5V9J    5VSD    5VSF    6BY9    6MBO    6MBP   
SuperfamilyQ9H9B1
Human Protein Atlas [tissue]ENSG00000181090-EHMT1 [tissue]
Peptide AtlasQ9H9B1
HPRD07383
IPIIPI00942420   IPI00645334   IPI00946054   IPI00946234   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9B1
IntAct (EBI)Q9H9B1
BioGRIDEHMT1
STRING (EMBL)EHMT1
ZODIACEHMT1
Ontologies - Pathways
QuickGOQ9H9B1
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription corepressor binding  p53 binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  DNA methylation  chromatin organization  methyltransferase activity  zinc ion binding  protein-lysine N-methyltransferase activity  histone methylation  nuclear body  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  peptidyl-lysine dimethylation  negative regulation of transcription, DNA-templated  regulation of embryonic development  histone methyltransferase activity (H3-K9 specific)  histone methyltransferase activity (H3-K27 specific)  histone H3-K9 methylation  response to fungicide  negative regulation of G0 to G1 transition  histone H3-K27 methylation  C2H2 zinc finger domain binding  positive regulation of cold-induced thermogenesis  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription corepressor binding  p53 binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  DNA methylation  chromatin organization  methyltransferase activity  zinc ion binding  protein-lysine N-methyltransferase activity  histone methylation  nuclear body  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  peptidyl-lysine dimethylation  negative regulation of transcription, DNA-templated  regulation of embryonic development  histone methyltransferase activity (H3-K9 specific)  histone methyltransferase activity (H3-K27 specific)  histone H3-K9 methylation  response to fungicide  negative regulation of G0 to G1 transition  histone H3-K27 methylation  C2H2 zinc finger domain binding  positive regulation of cold-induced thermogenesis  regulation of signal transduction by p53 class mediator  
Pathways : KEGGLysine degradation   
NDEx NetworkEHMT1
Atlas of Cancer Signalling NetworkEHMT1
Wikipedia pathwaysEHMT1
Orthology - Evolution
OrthoDB79813
GeneTree (enSembl)ENSG00000181090
Phylogenetic Trees/Animal Genes : TreeFamEHMT1
HOGENOMQ9H9B1
Homologs : HomoloGeneEHMT1
Homology/Alignments : Family Browser (UCSC)EHMT1
Gene fusions - Rearrangements
Fusion : MitelmanEHMT1/GRIN1 [9q34.3/9q34.3]  
Fusion : MitelmanEHMT1/PPP1R37 [9q34.3/19q13.32]  
Fusion PortalEHMT1 9q34.3 GRIN1 9q34.3 BRCA PRAD
Fusion PortalEHMT1 9q34.3 LRRC68 BLCA
Fusion : QuiverEHMT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHMT1 [hg38]
dbVarEHMT1
ClinVarEHMT1
MonarchEHMT1
1000_GenomesEHMT1 
Exome Variant ServerEHMT1
GNOMAD BrowserENSG00000181090
Varsome BrowserEHMT1
Genomic Variants (DGV)EHMT1 [DGVbeta]
DECIPHEREHMT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHMT1 
Mutations
ICGC Data PortalEHMT1 
TCGA Data PortalEHMT1 
Broad Tumor PortalEHMT1
OASIS PortalEHMT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHMT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEHMT1
Mutations and Diseases : HGMDEHMT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EHMT1
DgiDB (Drug Gene Interaction Database)EHMT1
DoCM (Curated mutations)EHMT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHMT1 (select a term)
intoGenEHMT1
Cancer3DEHMT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607001    610253   
Orphanet19899    12771   
DisGeNETEHMT1
MedgenEHMT1
Genetic Testing Registry EHMT1
NextProtQ9H9B1 [Medical]
GENETestsEHMT1
Target ValidationEHMT1
Huge Navigator EHMT1 [HugePedia]
ClinGenEHMT1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeEHMT1
Protein Interactions : CTD
Pharm GKB GenePA134941393
PharosQ9H9B1
Clinical trialEHMT1
Miscellaneous
canSAR (ICR)EHMT1 (select the gene name)
HarmonizomeEHMT1
DataMed IndexEHMT1
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEHMT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 25 19:19:39 CET 2021
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