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

Summary

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: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42700275..42745040, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43557412..43602180, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40852293..40897058, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical Significance of Upregulation of EZH1 Expression in Hepatocellular Carcinoma Tissues.
Title: Clinical Significance of Upregulation of EZH1 Expression in Hepatocellular Carcinoma Tissues.
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.
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.
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.
The role of EZH1 and EZH2 in development and cancer.
Title: The role of EZH1 and EZH2 in development and cancer.
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.
TRIM21 improves apatinib treatment in gastric cancer through suppressing EZH1 stability.
Title: TRIM21 improves apatinib treatment in gastric cancer through suppressing EZH1 stability.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D17S2003 (e-PCR)
- UniSTS:46096

RH70658 (e-PCR)
- UniSTS:34860

STS-Z40888 (e-PCR)
- UniSTS:3906

BARC0021 (e-PCR)
- UniSTS:255307

RH79740 (e-PCR)
- UniSTS:88396

SHGC-53562 (e-PCR)
- UniSTS:75876

D1S1423 (e-PCR)
- UniSTS:149619

WI-16114 (e-PCR)
- UniSTS:37529

SHGC-132859 (e-PCR)
- UniSTS:170928

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
located_in 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

EC 2.1.1.356

NP_001308010.1

EC 2.1.1.356

NP_001308011.1

EC 2.1.1.356

NP_001982.2

EC 2.1.1.356

XP_005257202.1

EC 2.1.1.356

XP_011522819.1

EC 2.1.1.356

XP_047291550.1

EC 2.1.1.356

XP_054171399.1

EC 2.1.1.356

XP_054171400.1

EC 2.1.1.356

XP_054171401.1

EC 2.1.1.356

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)

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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42700275..42745040 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

43557412..43602180 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315424.1 → XP_054171399.1 histone-lysine N-methyltransferase EZH1 isoform X1
XM_054315425.1 → XP_054171400.1 histone-lysine N-methyltransferase EZH1 isoform X2
XM_054315426.1 → XP_054171401.1 histone-lysine N-methyltransferase EZH1 isoform X3