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Aliases for EZH1 Gene

Aliases for EZH1 Gene

  • Enhancer Of Zeste 1 Polycomb Repressive Complex 2 Subunit 2 3
  • Enhancer Of Zeste Homolog 1 3 4
  • EC 2.1.1.43 4 63
  • ENX-2 3 4
  • Enhancer Of Zeste (Drosophila) Homolog 1 2
  • Enhancer Of Zeste Homolog 1 (Drosophila) 2
  • 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. Diseases associated with EZH1 include weaver syndrome. GO annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K27 specific). An important paralog of this gene is KMT2C.

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.

Gene Wiki entry for EZH1 Gene

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

Genomics for EZH1 Gene

Regulatory Elements for EZH1 Gene

Genomic Location for EZH1 Gene

Chromosome:
17
Start:
42,700,275 bp from pter
End:
42,745,078 bp from pter
Size:
44,804 bases
Orientation:
Minus strand

Genomic View for EZH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for EZH1 Gene at MOPED

Post-translational modifications for EZH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & 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 :
  • Contains 1 CXC domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
Domain:
  • Contains 1 CXC domain.
  • Contains 1 SET domain.
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:0005515 protein binding --
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:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EZH1

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for EZH1 Gene COMPARTMENTS Subcellular localization image for EZH1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
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

SuperPathways for EZH1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Polycomb & Trithorax Complexes in human,mouse,rat

Gene Ontology (GO) - Biological Process for EZH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 8921387
GO:0021766 hippocampus development IEA --
GO:0034968 histone lysine methylation IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with EZH1: view

No data available for Pathways by source and 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-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
UNC1999 Pharma EZH2 inhibitor 0
genes like me logo Genes that share compounds with EZH1: view

Transcripts for EZH1 Gene

Unigene Clusters for EZH1 Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EZH1

Flow Cytometry Products

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 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, MOPED, and MaxQB for EZH1 Gene



SOURCE GeneReport for Unigene cluster for EZH1 Gene Hs.194669

genes like me logo Genes that share expression patterns with EZH1: view

Protein tissue co-expression partners for EZH1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia EZH1 35
  • 92.19 (n)
  • 98.3 (a)
EZH1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EZH1 35
  • 92.59 (n)
  • 97.05 (a)
EZH1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ezh1 35
  • 90.81 (n)
  • 97.86 (a)
Ezh1 16
Ezh1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EZH1 35
  • 99.78 (n)
  • 100 (a)
EZH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ezh1 35
  • 91.03 (n)
  • 97.86 (a)
oppossum
(Monodelphis domestica)
Mammalia EZH1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EZH1 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves EZH1 35
  • 81.59 (n)
  • 91.82 (a)
EZH1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EZH1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ezh1 35
  • 73.45 (n)
  • 80.19 (a)
zebrafish
(Danio rerio)
Actinopterygii ezh1 35
  • 68.16 (n)
  • 69.41 (a)
ezh1 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta E(z) 37
  • 50 (a)
E(z) 36
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mes-2 36
  • 24 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.3851 35
corn
(Zea mays)
Liliopsida Zm.10343 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for EZH1:
  • 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

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 Sequence Context AA Info Type MAF
rs9766 -- 42,700,823(-) ACACA(C/T)GTACC utr-variant-3-prime
rs1064878 -- 42,702,407(-) CTCCC(C/T)CTGTA utr-variant-3-prime
rs1542923 -- 42,711,743(-) ACCTC(C/T)GCCTC intron-variant
rs1542924 -- 42,711,674(-) GGCCA(C/G)TATGC intron-variant
rs2089115 -- 42,706,823(-) AATTT(A/G)CCAGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv33998 OTHER Inversion 15654335
nsv833450 CNV Loss 17160897

Variation tolerance for EZH1 Gene

Residual Variation Intolerance Score: 11.49% 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)

Relevant External Links for EZH1 Gene

HapMap Linkage Disequilibrium report
EZH1

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

Disorders for EZH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EZH1 Gene - From: OMIM

Disorder Aliases PubMed IDs
weaver syndrome
  • weaver-williams syndrome
- elite association
Search EZH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EZH1

Genetic Association Database (GAD)
EZH1
Human Genome Epidemiology (HuGE) Navigator
EZH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EZH1
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 K.J. … Weber B.L. (Genomics 1996) 2 67
  2. Developmental control of polycomb subunit composition by GATA factors mediates a switch to non-canonical functions. (PMID: 25578878) Xu J. … Orkin S.H. (Mol. Cell 2015) 67
  3. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 67
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  5. An H3K36 methylation-engaging Tudor motif of Polycomb-like proteins mediates PRC2 complex targeting. (PMID: 23273982) Cai L. … Wang G.G. (Mol. Cell 2013) 67

Products for EZH1 Gene

  • Addgene plasmids for EZH1

Sources for EZH1 Gene

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