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

Gene ID: 2145, updated on 5-Aug-2022

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
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Genomic context

See EZH1 in Genome Data Viewer
Location:
17q21.2
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42700275..42745040, complement)
110 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 C-C motif chemokine receptor 10 Neighboring gene contactin associated protein 1 Neighboring gene microRNA 6780a Neighboring gene ribosomal protein L34 pseudogene 30 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
contributes_to histone binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables histone methyltransferase activity (H3-K27 specific) IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 histone H3-K27 trimethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001321079.2NP_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:439480
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    smart00317
    Location:619740
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:469733
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:439480
    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:4573
    EZH2_WD-Binding; WD repeat binding protein EZH2
  2. NM_001321081.2NP_001308010.1  histone-lysine N-methyltransferase EZH1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AB002386, AL833159
    Consensus CDS
    CCDS82130.1
    UniProtKB/Swiss-Prot
    Q92800
    UniProtKB/TrEMBL
    A0A0A0MSY9
    Related
    ENSP00000407869.2, ENST00000415827.6
    Conserved Domains (5) summary
    COG2940
    Location:454718
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:424465
    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:599734
    SET_EZH1; SET domain found in enhancer of zeste homolog 1 (EZH1) and similar proteins
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    pfam18118
    Location:150253
    PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
  3. NM_001321082.2NP_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:423687
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:393434
    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:568703
    SET_EZH1; SET domain found in enhancer of zeste homolog 1 (EZH1) and similar proteins
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    pfam18118
    Location:119222
    PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
  4. NM_001991.5NP_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
    Q53XP3, Q92800
    Related
    ENSP00000404658.1, ENST00000428826.7
    Conserved Domains (5) summary
    COG2940
    Location:463727
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:433474
    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:608743
    SET_EZH1; SET domain found in enhancer of zeste homolog 1 (EZH1) and similar proteins
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    pfam18118
    Location:159262
    PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011524517.3XP_011522819.1  histone-lysine N-methyltransferase EZH1 isoform X1

    Conserved Domains (5) summary
    smart00717
    Location:430471
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    smart00317
    Location:610731
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:460724
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:430471
    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:4573
    EZH2_WD-Binding; WD repeat binding protein EZH2
  2. XM_005257145.3XP_005257202.1  histone-lysine N-methyltransferase EZH1 isoform X2

    Conserved Domains (5) summary
    smart00717
    Location:399440
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    smart00317
    Location:579700
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    COG2940
    Location:429693
    SET; SET domain-containing protein (function unknown) [General function prediction only]
    cd00167
    Location:399440
    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:4573
    EZH2_WD-Binding; WD repeat binding protein EZH2
  3. XM_047435594.1XP_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)