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EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit [ Homo sapiens (human) ]

Gene ID: 2145, updated on 11-Apr-2024

Summary

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Official Symbol
EZH1provided by HGNC
Official Full Name
enhancer of zeste 1 polycomb repressive complex 2 subunitprovided by HGNC
Primary source
HGNC:HGNC:3526
See related
Ensembl:ENSG00000108799 MIM:601674; AllianceGenome:HGNC:3526
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KMT6B
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 23.1), fat (RPKM 20.0) and 25 other tissues See more
Orthologs
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Genomic context

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See EZH1 in Genome Data Viewer
Location:
17q21.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42700275..42745040, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43557412..43602180, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40852293..40897058, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40831166-40832014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40832015-40832863 Neighboring gene Sharpr-MPRA regulatory region 12568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40834082-40834700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12221 Neighboring gene Sharpr-MPRA regulatory region 245 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40839750-40840278 Neighboring gene contactin associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40842919-40843418 Neighboring gene EZH1 +46 kb erythroid enhancer Neighboring gene EZH1 +39 kb lymphoid enhancer Neighboring gene microRNA 6780a Neighboring gene ribosomal protein L34 pseudogene 30 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8546 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 15 Neighboring gene RAMP2 antisense RNA 1 Neighboring gene receptor activity modifying protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Polycomb EZH1 regulates cell cycle/5-fluorouracil sensitivity of neuroblastoma cells in concert with MYCN. Shinno Y, et al. Cancer Sci, 2022 Dec. PMID 36052716, Free PMC Article
  2. Downregulation of the enhancer of zeste homolog 1 transcriptional factor predicts poor prognosis of triple-negative breast cancer patients. Peng W, et al. PeerJ, 2022. PMID 35846880, Free PMC Article
  3. Structures of monomeric and dimeric PRC2:EZH1 reveal flexible modules involved in chromatin compaction. Grau D, et al. Nat Commun, 2021 Jan 29. PMID 33514705, Free PMC Article
  4. The Effect of Overexpression of the Enhancer of Zeste Homolog 1 (EZH1) Gene on Aristolochic Acid-Induced Injury in HK-2 Human Kidney Proximal Tubule Cells In Vitro. Wang L, et al. Med Sci Monit, 2019 Jan 28. PMID 30688289, Free PMC Article
  5. Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors. Jung CK, et al. Hum Pathol, 2018 Nov. PMID 29723601

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical Significance of Upregulation of EZH1 Expression in Hepatocellular Carcinoma Tissues.
    Title: Clinical Significance of Upregulation of EZH1 Expression in Hepatocellular Carcinoma Tissues.
  2. The competitive mechanism of EZH1 and EZH2 in promoting oral squamous cell carcinoma.
    Title: The competitive mechanism of EZH1 and EZH2 in promoting oral squamous cell carcinoma.
  3. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
    Title: Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
  4. Downregulation of the enhancer of zeste homolog 1 transcriptional factor predicts poor prognosis of triple-negative breast cancer patients.
    Title: Downregulation of the enhancer of zeste homolog 1 transcriptional factor predicts poor prognosis of triple-negative breast cancer patients.
  5. The role of EZH1 and EZH2 in development and cancer.
    Title: The role of EZH1 and EZH2 in development and cancer.
  6. Polycomb EZH1 regulates cell cycle/5-fluorouracil sensitivity of neuroblastoma cells in concert with MYCN.
    Title: Polycomb EZH1 regulates cell cycle/5-fluorouracil sensitivity of neuroblastoma cells in concert with MYCN.
  7. TRIM21 improves apatinib treatment in gastric cancer through suppressing EZH1 stability.
    Title: TRIM21 improves apatinib treatment in gastric cancer through suppressing EZH1 stability.
  8. Structures of monomeric and dimeric PRC2:EZH1 reveal flexible modules involved in chromatin compaction.
    Title: Structures of monomeric and dimeric PRC2:EZH1 reveal flexible modules involved in chromatin compaction.
  9. Targeting Excessive EZH1 and EZH2 Activities for Abnormal Histone Methylation and Transcription Network in Malignant Lymphomas.
    Title: Targeting Excessive EZH1 and EZH2 Activities for Abnormal Histone Methylation and Transcription Network in Malignant Lymphomas.
  10. Findings highlight the role of EZH1 in non-histone lysine methylation, indicating that cooperation between AML1-ETO and EZH1 and AML1-ETO site-specific lysine methylation promote AML1-ETO transcriptional repression in leukemia.
    Title: Protein lysine 43 methylation by EZH1 promotes AML1-ETO transcriptional repression in leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0388

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone H3K27 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone H3K27 methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables histone H3K27 trimethyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to histone binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables molecular condensate scaffold activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables nucleosome binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in chromatin remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in heterochromatin formation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
  
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in subtelomeric heterochromatin formation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
part_of ESC/E(Z) complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ESC/E(Z) complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
part_of heterochromatin ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
histone-lysine N-methyltransferase EZH1
Names
ENX-2
enhancer of zeste homolog 1
NP_001308008.1
NP_001308010.1
NP_001308011.1
NP_001982.2
XP_005257202.1
XP_011522819.1
XP_047291550.1
XP_054171399.1
XP_054171400.1
XP_054171401.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001321079.2 → NP_001308008.1  histone-lysine N-methyltransferase EZH1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AB002386, AK295626, AL833159
    UniProtKB/Swiss-Prot
    Q92800
    Conserved Domains (5) summary
    smart00717
    Location:439 → 480
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    smart00317
    Location:619 → 740
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:469 → 733
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:439 → 480
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    pfam11616
    Location:45 → 73
    EZH2_WD-Binding; WD repeat binding protein EZH2

  2. NM_001321081.2 → NP_001308010.1  histone-lysine N-methyltransferase EZH1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AB002386, AL833159
    Consensus CDS
    CCDS82130.1
    UniProtKB/TrEMBL
    A0A0A0MSY9
    Related
    ENSP00000407869.2, ENST00000415827.6
    Conserved Domains (5) summary
    COG2940
    Location:454 → 718
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:424 → 465
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    cd19217
    Location:599 → 734
    SET_EZH1; SET domain found in enhancer of zeste homolog 1 (EZH1) and similar proteins
    pfam11616
    Location:39 → 68
    EZH2_WD-Binding; WD repeat binding protein EZH2
    pfam18118
    Location:150 → 253
    PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain

  3. NM_001321082.2 → NP_001308011.1  histone-lysine N-methyltransferase EZH1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AB002386, AK299887, AL833159, DC423942
    Consensus CDS
    CCDS82129.1
    UniProtKB/Swiss-Prot
    Q92800
    Related
    ENSP00000467871.1, ENST00000585893.5
    Conserved Domains (5) summary
    COG2940
    Location:423 → 687
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:393 → 434
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    cd19217
    Location:568 → 703
    SET_EZH1; SET domain found in enhancer of zeste homolog 1 (EZH1) and similar proteins
    pfam11616
    Location:39 → 68
    EZH2_WD-Binding; WD repeat binding protein EZH2
    pfam18118
    Location:119 → 222
    PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain

  4. NM_001991.5 → NP_001982.2  histone-lysine N-methyltransferase EZH1 isoform 1

    See identical proteins and their annotated locations for NP_001982.2

    Status: VALIDATED

    Source sequence(s)
    AB002386, AL833159, DC333017
    Consensus CDS
    CCDS32659.1
    UniProtKB/Swiss-Prot
    A6NCH6, B4DIJ1, B4DIZ7, B4DSS2, B4E3R7, O43287, Q14459, Q53XP3, Q92800
    Related
    ENSP00000404658.1, ENST00000428826.7
    Conserved Domains (5) summary
    COG2940
    Location:463 → 727
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:433 → 474
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    cd19217
    Location:608 → 743
    SET_EZH1; SET domain found in enhancer of zeste homolog 1 (EZH1) and similar proteins
    pfam11616
    Location:39 → 68
    EZH2_WD-Binding; WD repeat binding protein EZH2
    pfam18118
    Location:159 → 262
    PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42700275..42745040 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524517.3 → XP_011522819.1  histone-lysine N-methyltransferase EZH1 isoform X1

    Conserved Domains (5) summary
    smart00717
    Location:430 → 471
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    smart00317
    Location:610 → 731
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:460 → 724
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:430 → 471
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    pfam11616
    Location:45 → 73
    EZH2_WD-Binding; WD repeat binding protein EZH2

  2. XM_005257145.3 → XP_005257202.1  histone-lysine N-methyltransferase EZH1 isoform X2

    Conserved Domains (5) summary
    smart00717
    Location:399 → 440
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    smart00317
    Location:579 → 700
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:429 → 693
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:399 → 440
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    pfam11616
    Location:45 → 73
    EZH2_WD-Binding; WD repeat binding protein EZH2

  3. XM_047435594.1 → XP_047291550.1  histone-lysine N-methyltransferase EZH1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43557412..43602180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315424.1 → XP_054171399.1  histone-lysine N-methyltransferase EZH1 isoform X1

  2. XM_054315425.1 → XP_054171400.1  histone-lysine N-methyltransferase EZH1 isoform X2

  3. XM_054315426.1 → XP_054171401.1  histone-lysine N-methyltransferase EZH1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92800.2 GenPept UniProtKB/Swiss-Prot:Q92800

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