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Aliases for EZH1 Gene

Aliases for EZH1 Gene

  • Enhancer Of Zeste 1 Polycomb Repressive Complex 2 Subunit 2 3 5
  • Enhancer Of Zeste Homolog 1 3 4
  • EC 2.1.1.43 4 56
  • ENX-2 3 4
  • Enhancer Of Zeste (Drosophila) Homolog 1 2
  • Enhancer Of Zeste Homolog 1 (Drosophila) 2
  • Histone-Lysine N-Methyltransferase EZH1 3
  • KIAA0388 4
  • KMT6B 3

External Ids for EZH1 Gene

Previous GeneCards Identifiers for EZH1 Gene

  • GC17M040422
  • GC17M043016
  • GC17M040761
  • GC17M041225
  • GC17M038105
  • GC17M040852
  • GC17M036617

Summaries for EZH1 Gene

Entrez Gene Summary for EZH1 Gene

  • EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]

GeneCards Summary for EZH1 Gene

EZH1 (Enhancer Of Zeste 1 Polycomb Repressive Complex 2 Subunit) is a Protein Coding gene. Among its related pathways are PKMTs methylate histone lysines and Interactome of polycomb repressive complex 2 (PRC2). Gene Ontology (GO) annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K27 specific). An important paralog of this gene is EZH2.

UniProtKB/Swiss-Prot for EZH1 Gene

  • Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates Lys-27 of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate Lys-27 of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation.

Tocris Summary for EZH1 Gene

  • Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.

Gene Wiki entry for EZH1 Gene

Additional gene information for EZH1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EZH1 Gene

Genomics for EZH1 Gene

GeneHancer (GH) Regulatory Elements for EZH1 Gene

Promoters and enhancers for EZH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I042743 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 504 2.2 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 E2F8 EZH1 GC17M042742 GC17P043436 GC17P043437 GC17P043494 GC17P043495 GC17P043496 GC17P043497 GC17P043514 PIR39772
GH17I042772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.9 -29.3 -29336 4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 VPS25 HMGN1P29 DHX8 ENSG00000267758 LINC00910 HMGN2P15 NBR2 NKIRAS2 CNTNAP1 MEOX1
GH17I042778 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.7 -35.2 -35241 3.6 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 POLR2B WNK4 GC17P043538 PIR58321 HMGN2P15 EZH1 AOC4P VPS25
GH17I042721 Enhancer 0.7 ENCODE 12.9 +23.9 23860 0.2 ELF3 CTCF SAP130 RB1 ARID4B SIN3A ZSCAN9 RAD21 CC2D1A CTBP1 EZH1 TUBG2 CNTD1 COA3 PSMC3IP PIR36960 GC17P042717 GC17P042716 PIR41014 GC17P043456
GH17I042802 Enhancer 0.8 ENCODE 11.1 -59.9 -59938 4.3 FOXA2 ARID4B RARA ETS1 ZNF121 SMARCC2 CREM THAP11 MIXL1 SP1 WNK4 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 EZH1 AOC2 AOC3 PSMC3IP AOC4P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EZH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EZH1 gene promoter:

Genomic Locations for EZH1 Gene

Genomic Locations for EZH1 Gene
chr17:42,700,275-42,745,078
(GRCh38/hg38)
Size:
44,804 bases
Orientation:
Minus strand
chr17:40,852,293-40,897,071
(GRCh37/hg19)

Genomic View for EZH1 Gene

Genes around EZH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EZH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EZH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EZH1 Gene

Proteins for EZH1 Gene

  • Protein details for EZH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92800-EZH1_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase EZH1
    Protein Accession:
    Q92800
    Secondary Accessions:
    • A6NCH6
    • B4DIJ1
    • B4DIZ7
    • B4DSS2
    • B4E3R7
    • O43287
    • Q14459
    • Q53XP3

    Protein attributes for EZH1 Gene

    Size:
    747 amino acids
    Molecular mass:
    85271 Da
    Quaternary structure:
    • Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2/EED-EZH1 is less abundant than the PRC2/EED-EZH2 complex, has weak methyltransferase activity and compacts chromatin in the absence of the methyltransferase cofactor S-adenosyl-L-methionine (SAM).
    SequenceCaution:
    • Sequence=BAA20842.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EZH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EZH1 Gene

Selected DME Specific Peptides for EZH1 Gene

Q92800:
  • DYRYSQADALKYVGIERE
  • SSSEANSRCQTP
  • VKSEYMRLRQLKR
  • CQNRFPGCRCK
  • VSCKNCSIQRG
  • ALNQYSD
  • HCRKIQLKKD
  • NYDGKVHG
  • TFIEELI
  • GDHRIGIFAKRAIQ
  • CFKYDCFLHPFHATPN
  • KKHLLLAPSDVAGWG
  • SFLFNLN
  • QLCVVEAPSEPVEWTGAEESLFRVFHGTYFNNFCSIARLL
  • GEELFFDY
  • QNFCEKFC
  • QCNTKQCPCYLAVRECDPDLCLTCGA
  • ISQDEADRRGKVYDKYM
  • PNCYAKV

Post-translational modifications for EZH1 Gene

No Post-translational modifications

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EZH1 (EZH1)
  • Abcam antibodies for EZH1

Domains & Families for EZH1 Gene

Gene Families for EZH1 Gene

Protein Domains for EZH1 Gene

Suggested Antigen Peptide Sequences for EZH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92800

UniProtKB/Swiss-Prot:

EZH1_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
genes like me logo Genes that share domains with EZH1: view

Function for EZH1 Gene

Molecular function for EZH1 Gene

GENATLAS Biochemistry:
Drosophila enhancer of zeste homolog 1,polycomb group,PcG
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates Lys-27 of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate Lys-27 of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation.

Enzyme Numbers (IUBMB) for EZH1 Gene

Gene Ontology (GO) - Molecular Function for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0018024 histone-lysine N-methyltransferase activity IEA --
genes like me logo Genes that share ontologies with EZH1: view
genes like me logo Genes that share phenotypes with EZH1: view

Animal Models for EZH1 Gene

MGI Knock Outs for EZH1:

Clone Products

  • Addgene plasmids for EZH1

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EZH1 Gene

Localization for EZH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EZH1 Gene

Nucleus. Note=Colocalizes with trimethylated Lys-27 of histone H3.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EZH1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0035098 ESC/E(Z) complex IDA 20075857
genes like me logo Genes that share ontologies with EZH1: view

Pathways & Interactions for EZH1 Gene

genes like me logo Genes that share pathways with EZH1: view

Pathways by source for EZH1 Gene

1 GeneTex pathway for EZH1 Gene
1 Cell Signaling Technology pathway for EZH1 Gene
1 KEGG pathway for EZH1 Gene

Gene Ontology (GO) - Biological Process for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 8921387
GO:0016569 covalent chromatin modification IEA --
GO:0021766 hippocampus development IEA --
genes like me logo Genes that share ontologies with EZH1: view

No data available for SIGNOR curated interactions for EZH1 Gene

Drugs & Compounds for EZH1 Gene

(3) Drugs for EZH1 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0
UNC 2400 Pharma negative control of UNC1999 0
UNC1999 Pharma EZH2 inhibitor 0

(1) Additional Compounds for EZH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0

(2) ApexBio Compounds for EZH1 Gene

Compound Action Cas Number
UNC 2400 negative control of UNC1999 1433200-49-7
UNC1999 EZH2 inhibitor 1431612-23-5
genes like me logo Genes that share compounds with EZH1: view

Drug Products

Transcripts for EZH1 Gene

Unigene Clusters for EZH1 Gene

Enhancer of zeste homolog 1 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for EZH1

Alternative Splicing Database (ASD) splice patterns (SP) for EZH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5:

ExUns: 21b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for EZH1 Gene

GeneLoc Exon Structure for
EZH1
ECgene alternative splicing isoforms for
EZH1

Expression for EZH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EZH1 Gene

Protein differential expression in normal tissues from HIPED for EZH1 Gene

This gene is overexpressed in Pancreatic juice (41.8), Placenta (7.7), and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EZH1 Gene



Protein tissue co-expression partners for EZH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EZH1 Gene:

EZH1

SOURCE GeneReport for Unigene cluster for EZH1 Gene:

Hs.194669

Evidence on tissue expression from TISSUES for EZH1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with EZH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EZH1 Gene

Orthologs for EZH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EZH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EZH1 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia EZH1 33 34
  • 92.59 (n)
cow
(Bos Taurus)
Mammalia EZH1 33 34
  • 92.19 (n)
rat
(Rattus norvegicus)
Mammalia Ezh1 33
  • 91.03 (n)
oppossum
(Monodelphis domestica)
Mammalia EZH1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ezh1 33 16 34
  • 90.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EZH1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves EZH1 33 34
  • 81.59 (n)
lizard
(Anolis carolinensis)
Reptilia EZH1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ezh1 33
  • 73.45 (n)
zebrafish
(Danio rerio)
Actinopterygii ezh1 33 34
  • 68.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta E(z) 35 34
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea mes-2 34
  • 24 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.3851 33
corn
(Zea mays)
Liliopsida Zm.10343 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
Species where no ortholog for EZH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EZH1 Gene

ENSEMBL:
Gene Tree for EZH1 (if available)
TreeFam:
Gene Tree for EZH1 (if available)

Paralogs for EZH1 Gene

(1) SIMAP similar genes for EZH1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with EZH1: view

Variants for EZH1 Gene

Sequence variations from dbSNP and Humsavar for EZH1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000004745 -- 42,714,622(-) C/T intron_variant
rs1000004780 -- 42,718,139(-) T/G intron_variant
rs1000010689 -- 42,737,625(-) AAACTA/A intron_variant
rs1000128806 -- 42,703,017(-) A/T intron_variant
rs1000215170 -- 42,717,538(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EZH1 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv833450 CNV loss 17160897

Variation tolerance for EZH1 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EZH1 Gene

Human Gene Mutation Database (HGMD)
EZH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EZH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EZH1 Gene

Disorders for EZH1 Gene

Additional Disease Information for EZH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EZH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EZH1 Gene

Publications for EZH1 Gene

  1. Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1. (PMID: 8921387) Abel KJ … Weber BL (Genomics 1996) 2 3 4 58
  2. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58
  3. Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms. (PMID: 19026781) Margueron R … Reinberg D (Molecular cell 2008) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Cloning and expression of a human/mouse Polycomb group gene, ENX-2/Enx-2. (PMID: 9473645) Ogawa M … Aiso S (Biochimica et biophysica acta 1998) 3 4 58

Products for EZH1 Gene

  • Addgene plasmids for EZH1

Sources for EZH1 Gene

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