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EHMT1 (euchromatic histone-lysine N-methyltransferase 1)

Identity

Other namesEUHMTASE1
Eu-HMTase1
FP13812
GLP
GLP1
KMT1D
bA188C12.1
HGNC (Hugo) EHMT1
LocusID (NCBI) 79813
Atlas_Id 51162
Location 9q34.3
Location_base_pair Starts at 140513444 and ends at 140678845 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  79813  euchromatic histone-lysine N-methyltransferase 1
GeneCards (Weizmann)EHMT1
Ensembl hg19 (Hinxton)ENSG00000181090 [Gene_View]  chr9:140513444-140678845 [Contig_View]  EHMT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000181090 [Gene_View]  chr9:140513444-140678845 [Contig_View]  EHMT1 [Vega]
ICGC DataPortalENSG00000181090
TCGA cBioPortalEHMT1
AceView (NCBI)EHMT1
Genatlas (Paris)EHMT1
WikiGenes79813
SOURCE (Princeton)EHMT1
Genomic and cartography
GoldenPath hg19 (UCSC)EHMT1  -     chr9:140513444-140678845 +  9q34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EHMT1  -     9q34.3   [Description]    (hg38-Dec_2013)
EnsemblEHMT1 - 9q34.3 [CytoView hg19]  EHMT1 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIEHMT1 [Mapview hg19]  EHMT1 [Mapview hg38]
OMIM607001   610253   
Gene and transcription
Genbank (Entrez)AB028932 AB058779 AF461894 AK022941 AK309602
RefSeq transcript (Entrez)NM_001145527 NM_024757
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_011776 NT_008470 NW_004929369
Consensus coding sequences : CCDS (NCBI)EHMT1
Cluster EST : UnigeneHs.495511 [ NCBI ]
CGAP (NCI)Hs.495511
Alternative Splicing GalleryENSG00000181090
Gene ExpressionEHMT1 [ NCBI-GEO ]   EHMT1 [ EBI - ARRAY_EXPRESS ]   EHMT1 [ SEEK ]   EHMT1 [ MEM ]
Gene Expression Viewer (FireBrowse)EHMT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79813
GTEX Portal (Tissue expression)EHMT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9B1 (Uniprot)
NextProtQ9H9B1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9B1
Splice isoforms : SwissVarQ9H9B1 (Swissvar)
Catalytic activity : Enzyme2.1.1.- [ Enzyme-Expasy ]   2.1.1.-2.1.1.- [ IntEnz-EBI ]   2.1.1.- [ BRENDA ]   2.1.1.- [ KEGG ]   
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    Pre-SET_dom    Pre-SET_Zn-bd_sub    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)  
DMDM Disease mutations79813
Blocks (Seattle)EHMT1
PDB (SRS)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
PDB (PDBSum)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
PDB (IMB)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
PDB (RSDB)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
Structural Biology KnowledgeBase2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
SCOP (Structural Classification of Proteins)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
CATH (Classification of proteins structures)2IGQ    2RFI    3B7B    3B95    3FPD    3HNA    3MO0    3MO2    3MO5    3SW9    3SWC    4I51   
SuperfamilyQ9H9B1
Human Protein AtlasENSG00000181090
Peptide AtlasQ9H9B1
HPRD07383
IPIIPI00942420   IPI00645334   IPI00946054   IPI00946234   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9B1
IntAct (EBI)Q9H9B1
FunCoupENSG00000181090
BioGRIDEHMT1
STRING (EMBL)EHMT1
ZODIACEHMT1
Ontologies - Pathways
QuickGOQ9H9B1
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  p53 binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  DNA methylation  methyltransferase activity  zinc ion binding  embryo development  protein-lysine N-methyltransferase activity  chromatin modification  histone methylation  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  peptidyl-lysine dimethylation  negative regulation of transcription, DNA-templated  histone methyltransferase activity (H3-K9 specific)  histone methyltransferase activity (H3-K27 specific)  histone H3-K9 methylation  response to fungicide  histone H3-K27 methylation  C2H2 zinc finger domain binding  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  p53 binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  DNA methylation  methyltransferase activity  zinc ion binding  embryo development  protein-lysine N-methyltransferase activity  chromatin modification  histone methylation  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  peptidyl-lysine dimethylation  negative regulation of transcription, DNA-templated  histone methyltransferase activity (H3-K9 specific)  histone methyltransferase activity (H3-K27 specific)  histone H3-K9 methylation  response to fungicide  histone H3-K27 methylation  C2H2 zinc finger domain binding  regulation of signal transduction by p53 class mediator  
Pathways : KEGGLysine degradation   
NDEx Network
Atlas of Cancer Signalling NetworkEHMT1
Wikipedia pathwaysEHMT1
Orthology - Evolution
OrthoDB79813
GeneTree (enSembl)ENSG00000181090
Phylogenetic Trees/Animal Genes : TreeFamEHMT1
Homologs : HomoloGeneEHMT1
Homology/Alignments : Family Browser (UCSC)EHMT1
Gene fusions - Rearrangements
Fusion: TCGAEHMT1 9q34.3 GRIN1 9q34.3 BRCA PRAD
Fusion: TCGAEHMT1 9q34.3 LRRC68 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerEHMT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHMT1
dbVarEHMT1
ClinVarEHMT1
1000_GenomesEHMT1 
Exome Variant ServerEHMT1
ExAC (Exome Aggregation Consortium)EHMT1 (select the gene name)
Genetic variants : HAPMAP79813
Genomic Variants (DGV)EHMT1 [DGVbeta]
Mutations
ICGC Data PortalEHMT1 
TCGA Data PortalEHMT1 
Broad Tumor PortalEHMT1
OASIS PortalEHMT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHMT1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:140513444-140678845  ENSG00000181090
CONAN: Copy Number AnalysisEHMT1 
Mutations and Diseases : HGMDEHMT1
OMIM607001    610253   
MedgenEHMT1
Genetic Testing Registry EHMT1
NextProtQ9H9B1 [Medical]
TSGene79813
GENETestsEHMT1
Huge Navigator EHMT1 [HugePedia]
snp3D : Map Gene to Disease79813
BioCentury BCIQEHMT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79813
Chemical/Pharm GKB GenePA134941393
Clinical trialEHMT1
Miscellaneous
canSAR (ICR)EHMT1 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHMT1
EVEXEHMT1
GoPubMedEHMT1
iHOPEHMT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 18:44:50 CEST 2016

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