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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
Location 9q34.3
Location_base_pair Starts at 140513444 and ends at 140678845 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)EHMT1   24650
Cards
Entrez_Gene (NCBI)EHMT1  79813  euchromatic histone-lysine N-methyltransferase 1
GeneCards (Weizmann)EHMT1
Ensembl (Hinxton)ENSG00000181090 [Gene_View]  chr9:140513444-140678845 [Contig_View]  EHMT1 [Vega]
ICGC DataPortalENSG00000181090
AceView (NCBI)EHMT1
Genatlas (Paris)EHMT1
WikiGenes79813
SOURCE (Princeton)NM_001145527 NM_024757
Genomic and cartography
GoldenPath (UCSC)EHMT1  -  9q34.3   chr9:140513444-140678845 +  9q34.3   [Description]    (hg19-Feb_2009)
EnsemblEHMT1 - 9q34.3 [CytoView]
Mapping of homologs : NCBIEHMT1 [Mapview]
OMIM607001   610253   
Gene and transcription
Genbank (Entrez)AB028932 AB058779 AF461894 AK022941 AL713772
RefSeq transcript (Entrez)NM_001145527 NM_024757
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_011776 NT_008470 NW_001839245 NW_004929369
Consensus coding sequences : CCDS (NCBI)EHMT1
Cluster EST : UnigeneHs.495511 [ NCBI ]
CGAP (NCI)Hs.495511
Alternative Splicing : Fast-db (Paris)GSHG0030621
Alternative Splicing GalleryENSG00000181090
Gene ExpressionEHMT1 [ NCBI-GEO ]     EHMT1 [ SEEK ]   EHMT1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9B1 (Uniprot)
NextProtQ9H9B1  [Medical]
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 ]   
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   
Related proteins : CluSTrQ9H9B1
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    Pre-SET (PF05033)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam05033    pfam00856   
Domain families : Smart (EMBL)ANK (SM00248)  PreSET (SM00468)  SET (SM00317)  
DMDM Disease mutations79813
Blocks (Seattle)Q9H9B1
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   
Human Protein AtlasENSG00000181090
Peptide AtlasQ9H9B1
HPRD07383
IPIIPI00942420   IPI00645334   IPI00946054   IPI00946234   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9B1
IntAct (EBI)Q9H9B1
FunCoupENSG00000181090
BioGRIDEHMT1
InParanoidQ9H9B1
Interologous Interaction database Q9H9B1
IntegromeDBEHMT1
STRING (EMBL)EHMT1
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  p53 binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  plasma membrane  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  histone H3-K27 methylation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  p53 binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  plasma membrane  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  histone H3-K27 methylation  
Pathways : KEGGLysine degradation   
Protein Interaction DatabaseEHMT1
Wikipedia pathwaysEHMT1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EHMT1
SNP (GeneSNP Utah)EHMT1
SNP : HGBaseEHMT1
Genetic variants : HAPMAPEHMT1
1000_GenomesEHMT1 
ICGC programENSG00000181090 
CONAN: Copy Number AnalysisEHMT1 
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
Mutations and Diseases : HGMDEHMT1
OMIM607001    610253   
MedgenEHMT1
GENETestsEHMT1
Disease Genetic AssociationEHMT1
Huge Navigator EHMT1 [HugePedia]  EHMT1 [HugeCancerGEM]
Genomic VariantsEHMT1  EHMT1 [DGVbeta]
Exome VariantEHMT1
dbVarEHMT1
ClinVarEHMT1
snp3D : Map Gene to Disease79813
General knowledge
Homologs : HomoloGeneEHMT1
Homology/Alignments : Family Browser (UCSC)EHMT1
Phylogenetic Trees/Animal Genes : TreeFamEHMT1
Chemical/Protein Interactions : CTD79813
Chemical/Pharm GKB GenePA134941393
Clinical trialEHMT1
Cancer Resource (Charite)ENSG00000181090
Other databases
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
CoreMineEHMT1
iHOPEHMT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:44:13 CEST 2014

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