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] See more...

Aliases for EZH1 Gene

Aliases for EZH1 Gene

  • Enhancer Of Zeste 1 Polycomb Repressive Complex 2 Subunit 2 3 5
  • Histone-Lysine N-Methyltransferase EZH1 3 4
  • Enhancer Of Zeste Homolog 1 3 4
  • KIAA0388 2 4
  • KMT6B 2 3
  • ENX-2 3 4
  • Enhancer Of Zeste (Drosophila) Homolog 1 2
  • Enhancer Of Zeste Homolog 1 (Drosophila) 2
  • EC 2.1.1.356 4
  • EC 2.1.1.43 50
  • EZH1 5

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. Diseases associated with EZH1 include Retinitis Pigmentosa 48 and Weaver Syndrome. Among its related pathways are Lysine degradation and Chromatin Regulation / Acetylation. 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 Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EZH1 Gene

Genomics for EZH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EZH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EZH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EZH1

Top Transcription factor binding sites by QIAGEN in the EZH1 gene promoter:
  • AP-4
  • c-Myb
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Hlf
  • LCR-F1
  • MAZR
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for EZH1 Gene

Latest Assembly
chr17:42,700,275-42,745,078
(GRCh38/hg38)
Size:
44,804 bases
Orientation:
Minus strand

Previous Assembly
chr17:40,852,293-40,897,058
(GRCh37/hg19 by Entrez Gene)
Size:
44,766 bases
Orientation:
Minus strand

chr17:40,852,293-40,897,071
(GRCh37/hg19 by Ensembl)
Size:
44,779 bases
Orientation:
Minus strand

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 (PubMed:19026781). 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) (PubMed:19026781). Interacts with EZHIP; the interaction blocks EZH1 methyltransferase activity (PubMed:31451685).
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for EZH1 Gene

Protein Domains for EZH1 Gene

Suggested Antigen Peptide Sequences for EZH1 Gene

GenScript: Design optimal peptide antigens:
  • Enhancer of zeste homolog 1 (EZH1_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60292, Rhea:RHEA-COMP:15535, Rhea:RHEA-COMP:15548, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.356; Evidence={ECO:0000269|PubMed:19026781};.
GENATLAS Biochemistry:
Drosophila enhancer of zeste homolog 1,polycomb group,PcG

Enzyme Numbers (IUBMB) for EZH1 Gene

Phenotypes From GWAS Catalog for EZH1 Gene

Gene Ontology (GO) - Molecular Function for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 NOT DNA binding ISS 19026781
GO:0003682 chromatin binding TAS 8921387
GO:0003714 transcription corepressor activity ISS 19026781
GO:0005515 protein binding IEA --
GO:0008168 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:
  • Ezh1 Ezh1<tm1Jnw>
  • Ezh1 Ezh1<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EZH1

No data available for 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

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:0000781 chromosome, telomeric region ISS 9214638
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 Cell Signaling Technology pathway for EZH1 Gene
1 GeneTex pathway for EZH1 Gene

Gene Ontology (GO) - Biological Process for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS 19026781
GO:0006325 chromatin organization IEA --
GO:0006338 chromatin remodeling ISS 19026781
GO:0006348 chromatin silencing at telomere ISS 9214638
GO:0009653 anatomical structure morphogenesis TAS 8921387
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

(4) Drugs for EZH1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tazemetostat Approved, Investigational Pharma Target, inhibitor 0
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, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3

(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 for research

Transcripts for EZH1 Gene

mRNA/cDNA for EZH1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for EZH1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Ovary (Reproductive System)

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, MaxQB, and MOPED for EZH1 Gene



Protein tissue co-expression partners for EZH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Skin(2.5)
  • Muscle(2.5)
  • Kidney(2.4)
  • Heart(2.3)
  • Intestine(2.2)
  • Lymph node(2.1)
  • Spleen(2.1)
  • Thyroid gland(2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with EZH1: view

No data available for 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 29 30
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EZH1 29 30
  • 92.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EZH1 29 30
  • 92.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ezh1 29
  • 91.03 (n)
Oppossum
(Monodelphis domestica)
Mammalia EZH1 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ezh1 29 16 30
  • 90.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EZH1 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EZH1 29 30
  • 81.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EZH1 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ezh1 29
  • 73.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii ezh1 29 30
  • 68.16 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta E(z) 30 31
  • 50 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mes-2 30
  • 24 (a)
OneToMany
Soybean
(Glycine max)
eudicotyledons Gma.3851 29
Corn
(Zea mays)
Liliopsida Zm.10343 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
OneToMany
Species where no ortholog for EZH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EZH1: view image
Alliance of Genome Resources:
Additional Orthologs for EZH1

Paralogs for EZH1 Gene

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

  • EZH1_HUMAN
  • K7EIH5_HUMAN
  • K7EJU6_HUMAN
  • K7EK26_HUMAN
  • K7EK66_HUMAN
  • K7EM79_HUMAN
  • K7ENP2_HUMAN
  • K7EPC0_HUMAN
  • K7ESB9_HUMAN
genes like me logo Genes that share paralogs with EZH1: view

Variants for EZH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EZH1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
977755 Uncertain Significance: EZH1-related disorder 42,703,805(-) G/C
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly)
MISSENSE
rs1597832055 Uncertain Significance: not provided 42,712,473(-) C/T
NM_001991.5(EZH1):c.1217G>A (p.Arg406His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EZH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
EZH1

SNP Genotyping and Copy Number Assays for research

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

Disorders for EZH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EZH1 Gene - From: COP

Disorder Aliases PubMed IDs
retinitis pigmentosa 48
  • rp48
weaver syndrome
  • wvs
- elite association - COSMIC cancer census association via MalaCards
Search EZH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EZH1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EZH1: view

No data available for 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
  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 40
  3. Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms. (PMID: 19026781) Margueron R … Reinberg D (Molecular cell 2008) 3 4
  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
  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

Products for EZH1 Gene

Sources for EZH1 Gene