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

Identity

Alias (NCBI)KMT6B
HGNC (Hugo) EZH1
HGNC Alias symbKIAA0388
KMT6B
HGNC Previous nameenhancer of zeste (Drosophila) homolog 1
 enhancer of zeste homolog 1 (Drosophila)
LocusID (NCBI) 2145
Atlas_Id 47297
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42700275 and ends at 42745040 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)
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    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]  ENSG00000108799 [Sequence]  chr17:42700275-42745040 [Contig_View]  EZH1 [Vega]
ICGC DataPortalENSG00000108799
TCGA cBioPortalEZH1
AceView (NCBI)EZH1
Genatlas (Paris)EZH1
SOURCE (Princeton)EZH1
Genetics Home Reference (NIH)EZH1
Genomic and cartography
GoldenPath hg38 (UCSC)EZH1  -     chr17:42700275-42745040 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EZH1  -     17q21.2   [Description]    (hg19-Feb_2009)
GoldenPathEZH1 - 17q21.2 [CytoView hg19]  EZH1 - 17q21.2 [CytoView hg38]
ImmunoBaseENSG00000108799
Genome Data Viewer NCBIEZH1 [Mapview hg19]  
OMIM601674   
Gene and transcription
Genbank (Entrez)AB002386 AB004818 AK295626 AK295853 AK299887
RefSeq transcript (Entrez)NM_001321079 NM_001321081 NM_001321082 NM_001991
Consensus coding sequences : CCDS (NCBI)EZH1
Gene ExpressionEZH1 [ NCBI-GEO ]   EZH1 [ EBI - ARRAY_EXPRESS ]   EZH1 [ SEEK ]   EZH1 [ MEM ]
Gene Expression Viewer (FireBrowse)EZH1 [ Firebrowse - Broad ]
GenevisibleExpression of EZH1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2145
GTEX Portal (Tissue expression)EZH1
Human Protein AtlasENSG00000108799-EZH1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ92800
Domaine pattern : Prosite (Expaxy)CXC (PS51633)    SET (PS50280)   
Domains : Interpro (EBI)CXC_dom    EZH1    EZH1/EZH2    PRC2_HTH_1    Pre-SET_CXC    SANT/Myb    SET_dom    Tesmin/TSO1-like_CXC   
Domain families : Pfam (Sanger)EZH2_WD-Binding (PF11616)    PRC2_HTH_1 (PF18118)    preSET_CXC (PF18264)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam11616    pfam18118    pfam18264    pfam00856   
Domain families : Smart (EMBL)CXC (SM01114)  SANT (SM00717)  SET (SM00317)  
Conserved Domain (NCBI)EZH1
SuperfamilyQ92800
AlphaFold pdb e-kbQ92800   
Human Protein Atlas [tissue]ENSG00000108799-EZH1 [tissue]
HPRD03397
Protein Interaction databases
DIP (DOE-UCLA)Q92800
IntAct (EBI)Q92800
BioGRIDEZH1
STRING (EMBL)EZH1
ZODIACEZH1
Ontologies - Pathways
QuickGOQ92800
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromosome, telomeric region  DNA binding  chromatin binding  transcription corepressor activity  protein binding  nucleoplasm  chromatin remodeling  chromatin silencing at telomere  anatomical structure morphogenesis  histone-lysine N-methyltransferase activity  hippocampus development  nucleosomal histone binding  heterochromatin assembly  ESC/E(Z) complex  positive regulation of transcription by RNA polymerase II  histone H3-K27 methylation  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromosome, telomeric region  DNA binding  chromatin binding  transcription corepressor activity  protein binding  nucleoplasm  chromatin remodeling  chromatin silencing at telomere  anatomical structure morphogenesis  histone-lysine N-methyltransferase activity  hippocampus development  nucleosomal histone binding  heterochromatin assembly  ESC/E(Z) complex  positive regulation of transcription by RNA polymerase II  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
Homologs : HomoloGeneEZH1
Homology/Alignments : Family Browser (UCSC)EZH1
Gene fusions - Rearrangements
Fusion : MitelmanEZH1/IGFBP5 [17q21.2/2q35]  
Fusion : MitelmanEZH1/TOP2A [17q21.2/17q21.2]  
Fusion : MitelmanEZH1/ZC3H3 [17q21.2/8q24.3]  
Fusion : MitelmanWIPF2/EZH1 [17q21.1/17q21.2]  
Fusion : QuiverEZH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEZH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EZH1
dbVarEZH1
ClinVarEZH1
MonarchEZH1
1000_GenomesEZH1 
Exome Variant ServerEZH1
GNOMAD BrowserENSG00000108799
Varsome BrowserEZH1
ACMGEZH1 variants
VarityQ92800
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]  
Somatic Mutations in Cancer : COSMIC3DEZH1
Mutations and Diseases : HGMDEZH1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEZH1
DgiDB (Drug Gene Interaction Database)EZH1
DoCM (Curated mutations)EZH1
CIViC (Clinical Interpretations of Variants in Cancer)EZH1
Cancer3DEZH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601674   
Orphanet
DisGeNETEZH1
MedgenEZH1
Genetic Testing Registry EZH1
NextProtQ92800 [Medical]
GENETestsEZH1
Target ValidationEZH1
Huge Navigator EZH1 [HugePedia]
ClinGenEZH1
Clinical trials, drugs, therapy
MyCancerGenomeEZH1
Protein Interactions : CTDEZH1
Pharm GKB GenePA27938
PharosQ92800
Clinical trialEZH1
Miscellaneous
canSAR (ICR)EZH1
HarmonizomeEZH1
DataMed IndexEZH1
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEZH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:08:42 CEST 2021

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