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EZH1 (enhancer of zeste 1 polycomb repressive complex 2 subunit)

Identity

Alias_namesenhancer of zeste (Drosophila) homolog 1
enhancer of zeste homolog 1 (Drosophila)
Alias_symbol (synonym)KIAA0388
KMT6B
Other alias
HGNC (Hugo) EZH1
LocusID (NCBI) 2145
Atlas_Id 47297
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42700275 and ends at 42745096 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EZH1 (17q21.2) / IGFBP5 (2q35)EZH1 (17q21.2) / STAT3 (17q21.2)EZH1 (17q21.2) / TOP2A (17q21.2)
EZH1 (17q21.2) / ZC3H3 (8q24.3)WIPF2 (17q21.1) / EZH1 (17q21.2)EZH1 17q21.2 / IGFBP5 2q35
EZH1 17q21.2 / TOP2A 17q21.2EZH1 17q21.2 / ZC3H3 8q24.3WIPF2 17q21.1 / EZH1 17q21.2

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)EZH1   3526
Cards
Entrez_Gene (NCBI)EZH1  2145  enhancer of zeste 1 polycomb repressive complex 2 subunit
AliasesKMT6B
GeneCards (Weizmann)EZH1
Ensembl hg19 (Hinxton)ENSG00000108799 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108799 [Gene_View]  chr17:42700275-42745096 [Contig_View]  EZH1 [Vega]
ICGC DataPortalENSG00000108799
TCGA cBioPortalEZH1
AceView (NCBI)EZH1
Genatlas (Paris)EZH1
WikiGenes2145
SOURCE (Princeton)EZH1
Genetics Home Reference (NIH)EZH1
Genomic and cartography
GoldenPath hg38 (UCSC)EZH1  -     chr17:42700275-42745096 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EZH1  -     17q21.2   [Description]    (hg19-Feb_2009)
EnsemblEZH1 - 17q21.2 [CytoView hg19]  EZH1 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIEZH1 [Mapview hg19]  EZH1 [Mapview hg38]
OMIM601674   
Gene and transcription
Genbank (Entrez)AB002386 AB004818 AK295626 AK295853 AK299887
RefSeq transcript (Entrez)NM_001321079 NM_001321081 NM_001321082 NM_001991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EZH1
Cluster EST : UnigeneHs.194669 [ NCBI ]
CGAP (NCI)Hs.194669
Alternative Splicing GalleryENSG00000108799
Gene ExpressionEZH1 [ NCBI-GEO ]   EZH1 [ EBI - ARRAY_EXPRESS ]   EZH1 [ SEEK ]   EZH1 [ MEM ]
Gene Expression Viewer (FireBrowse)EZH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2145
GTEX Portal (Tissue expression)EZH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92800   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92800  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92800
Splice isoforms : SwissVarQ92800
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
PhosPhoSitePlusQ92800
Domaine pattern : Prosite (Expaxy)CXC (PS51633)    SET (PS50280)   
Domains : Interpro (EBI)CXC_dom    EZH1    EZH1/EZH2    SANT/Myb    SET_dom    Tesmin/TSO1-like_CXC   
Domain families : Pfam (Sanger)EZH2_WD-Binding (PF11616)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam11616    pfam00856   
Domain families : Smart (EMBL)CXC (SM01114)  SANT (SM00717)  SET (SM00317)  
Conserved Domain (NCBI)EZH1
DMDM Disease mutations2145
Blocks (Seattle)EZH1
SuperfamilyQ92800
Human Protein AtlasENSG00000108799
Peptide AtlasQ92800
HPRD03397
IPIIPI00023672   IPI00921311   IPI00921284   IPI00921136   IPI00921257   
Protein Interaction databases
DIP (DOE-UCLA)Q92800
IntAct (EBI)Q92800
FunCoupENSG00000108799
BioGRIDEZH1
STRING (EMBL)EZH1
ZODIACEZH1
Ontologies - Pathways
QuickGOQ92800
Ontology : AmiGOchromatin binding  nucleoplasm  transcription, DNA-templated  anatomical structure morphogenesis  histone-lysine N-methyltransferase activity  hippocampus development  ESC/E(Z) complex  positive regulation of transcription from RNA polymerase II promoter  histone H3-K27 methylation  
Ontology : EGO-EBIchromatin binding  nucleoplasm  transcription, DNA-templated  anatomical structure morphogenesis  histone-lysine N-methyltransferase activity  hippocampus development  ESC/E(Z) complex  positive regulation of transcription from RNA polymerase II promoter  histone H3-K27 methylation  
Pathways : BIOCARTAThe PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes]   
NDEx NetworkEZH1
Atlas of Cancer Signalling NetworkEZH1
Wikipedia pathwaysEZH1
Orthology - Evolution
OrthoDB2145
GeneTree (enSembl)ENSG00000108799
Phylogenetic Trees/Animal Genes : TreeFamEZH1
HOVERGENQ92800
HOGENOMQ92800
Homologs : HomoloGeneEZH1
Homology/Alignments : Family Browser (UCSC)EZH1
Gene fusions - Rearrangements
Fusion : MitelmanEZH1/IGFBP5 [17q21.2/2q35]  
Fusion : MitelmanEZH1/TOP2A [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
Fusion : MitelmanEZH1/ZC3H3 [17q21.2/8q24.3]  [t(8;17)(q24;q21)]  
Fusion : MitelmanWIPF2/EZH1 [17q21.1/17q21.2]  [t(17;17)(q21;q21)]  
Fusion: TCGAEZH1 17q21.2 IGFBP5 2q35 PRAD
Fusion: TCGAEZH1 17q21.2 TOP2A 17q21.2 BRCA
Fusion: TCGAEZH1 17q21.2 ZC3H3 8q24.3 OV
Fusion: TCGAWIPF2 17q21.1 EZH1 17q21.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEZH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EZH1
dbVarEZH1
ClinVarEZH1
1000_GenomesEZH1 
Exome Variant ServerEZH1
ExAC (Exome Aggregation Consortium)EZH1 (select the gene name)
Genetic variants : HAPMAP2145
Genomic Variants (DGV)EZH1 [DGVbeta]
DECIPHEREZH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEZH1 
Mutations
ICGC Data PortalEZH1 
TCGA Data PortalEZH1 
Broad Tumor PortalEZH1
OASIS PortalEZH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEZH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEZH1
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 EZH1
DgiDB (Drug Gene Interaction Database)EZH1
DoCM (Curated mutations)EZH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EZH1 (select a term)
intoGenEZH1
Cancer3DEZH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601674   
Orphanet
MedgenEZH1
Genetic Testing Registry EZH1
NextProtQ92800 [Medical]
TSGene2145
GENETestsEZH1
Target ValidationEZH1
Huge Navigator EZH1 [HugePedia]
snp3D : Map Gene to Disease2145
BioCentury BCIQEZH1
ClinGenEZH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2145
Chemical/Pharm GKB GenePA27938
Clinical trialEZH1
Miscellaneous
canSAR (ICR)EZH1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEZH1
EVEXEZH1
GoPubMedEZH1
iHOPEZH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:52:55 CEST 2017

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