Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ezh1provided by MGI
Official Full Name: enhancer of zeste 1 polycomb repressive complex 2 subunitprovided by MGI
Primary source: MGI:MGI:1097695
See related: Ensembl:ENSMUSG00000006920 AllianceGenome:MGI:1097695
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ENX-2
Summary: This gene encodes a member of the Polycomb-group (PcG) family. The encoded protein is interchangeable with the related Enhancer of zeste 2 (Ezh2) protein as a core component of the polycomb repressive complex 2 (PRC2), which methylates histone H3 at lysine 27 and results in the transcriptional repression of affected target genes. This complex is involved in carrying out cell-fate decisions during embryonic stem cell differentiation. [provided by RefSeq, Sep 2014]
Expression: Ubiquitous expression in lung adult (RPKM 16.7), kidney adult (RPKM 16.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 64.37 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (101081941..101117268, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (101191115..101226463, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos.
Title: Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos.
Polycomb Ezh1 maintains murine muscle stem cell quiescence through non-canonical regulation of Notch signaling.
Title: Polycomb Ezh1 maintains murine muscle stem cell quiescence through non-canonical regulation of Notch signaling.
Maternal Ezh1/2 deficiency in oocyte delays H3K27me2/3 restoration and impairs epiblast development responsible for embryonic sub-lethality in mouse.
Title: Maternal Ezh1/2 deficiency in oocyte delays H3K27me2/3 restoration and impairs epiblast development responsible for embryonic sub-lethality in mouse.
Malat-1-PRC2-EZH1 interaction supports adaptive oxidative stress dependent epigenome remodeling in skeletal myotubes.
Title: Malat-1-PRC2-EZH1 interaction supports adaptive oxidative stress dependent epigenome remodeling in skeletal myotubes.
Ezh1 regulates expression of Cpg15/Neuritin in mouse cortical neurons.
Title: Ezh1 regulates expression of Cpg15/Neuritin in mouse cortical neurons.
The polycomb proteins EZH1 and EZH2 co-regulate chromatin accessibility and nephron progenitor cell lifespan in mice.
Title: The polycomb proteins EZH1 and EZH2 co-regulate chromatin accessibility and nephron progenitor cell lifespan in mice.
Findings reveal that Ezh1/Ezh2-catalyzed H3K27-trimethyation regulates sex-dependent genetic programs in liver metabolism and liver fibrosis through its sex-dependent effects on the epigenome, and may thereby determine the sex-bias in liver disease susceptibility.
Title: Sex-biased genetic programs in liver metabolism and liver fibrosis are controlled by EZH1 and EZH2.
Depletion of EZH1 in the prefrontal cortex attenuated sociability, enhanced motivational behaviors and affected gene expression pathways.
Title: EZH1 is an antipsychotic-sensitive epigenetic modulator of social and motivational behavior that is dysregulated in schizophrenia.
The Polycomb repressive complex 2 proteins EZH1 and EZH2 regulate genes that control hepatocyte maturation and fibrogenesis and genes not specifically associated with the liver lineage by acting at euchromatic promoter regions. EZH1 and EZH2 thereby promote liver homeostasis and prevent liver damage.
Title: Polycomb Repressive Complex 2 Proteins EZH1 and EZH2 Regulate Timing of Postnatal Hepatocyte Maturation and Fibrosis by Repressing Genes With Euchromatic Promoters in Mice.
The combined loss of Ezh1 and Ezh2 in chondrocytes severely impairs skeletal growth in mice.
Title: EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AB004817 (e-PCR)
- UniSTS:185917

Ezh1 (e-PCR), detects polymorphism
- UniSTS:257094

PMC108938P1 (e-PCR)
- UniSTS:257095

BARC0021 (e-PCR)
- UniSTS:255307

AW557915 (e-PCR)
- UniSTS:180321

MARC_15753-15754:1017935735:1 (e-PCR)
- UniSTS:267893

MARC_15753-15754:1032191159:1 (e-PCR)
- UniSTS:267893

NoName (e-PCR)
- UniSTS:236736

NoName (e-PCR)
- UniSTS:236745

Ezh1 (e-PCR), detects polymorphism
- UniSTS:143052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables histone H3K27 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3K27 methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H3K27 methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables histone H3K27 trimethyltransferase activity	IEA Inferred from Electronic Annotation more info
contributes_to histone binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables nucleosome binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in facultative heterochromatin formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within hepatocyte homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in heterochromatin formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within liver regeneration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to tetrachloromethane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in subtelomeric heterochromatin formation	IGI Inferred from Genetic Interaction 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
part_of ESC/E(Z) complex	ISO Inferred from Sequence Orthology more info
located_in chromosome, telomeric region	IGI Inferred from Genetic Interaction more info	PubMed
located_in heterochromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histone-lysine N-methyltransferase EZH1

Names: enhancer of zeste homolog 1

NP_001390736.1

EC 2.1.1.356

NP_001390738.1

EC 2.1.1.356

NP_001390739.1

EC 2.1.1.356

NP_001390740.1

EC 2.1.1.356

NP_001390741.1

EC 2.1.1.356

NP_001390742.1

EC 2.1.1.356

NP_001390743.1

EC 2.1.1.356

NP_001390744.1

EC 2.1.1.356

NP_001390745.1

EC 2.1.1.356

NP_001390747.1

EC 2.1.1.356

NP_001390750.1

EC 2.1.1.356

NP_001390751.1

EC 2.1.1.356

NP_031996.1

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_001403807.1 → NP_001390736.1 histone-lysine N-methyltransferase EZH1 isoform 2

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403809.1 → NP_001390738.1 histone-lysine N-methyltransferase EZH1 isoform 3

Status: REVIEWED

Source sequence(s)

AL590969

UniProtKB/Swiss-Prot

A2A4K5, P70351, Q3TPR1, Q3U3V5, Q3UU02, Q8BR85, Q922L1, Q9R089

Related

ENSMUSP00000102905.2, ENSMUST00000107284.8
NM_001403810.1 → NP_001390739.1 histone-lysine N-methyltransferase EZH1 isoform 4

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403811.1 → NP_001390740.1 histone-lysine N-methyltransferase EZH1 isoform 5

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403812.1 → NP_001390741.1 histone-lysine N-methyltransferase EZH1 isoform 6

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403813.1 → NP_001390742.1 histone-lysine N-methyltransferase EZH1 isoform 7

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403814.1 → NP_001390743.1 histone-lysine N-methyltransferase EZH1 isoform 8

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403815.1 → NP_001390744.1 histone-lysine N-methyltransferase EZH1 isoform 9

Status: REVIEWED

Source sequence(s)

AL590969

Related

ENSMUSP00000097984.3, ENSMUST00000100417.3
NM_001403816.1 → NP_001390745.1 histone-lysine N-methyltransferase EZH1 isoform 10

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403818.1 → NP_001390747.1 histone-lysine N-methyltransferase EZH1 isoform 11

Status: REVIEWED

Source sequence(s)

AL590969
NM_001403821.1 → NP_001390750.1 histone-lysine N-methyltransferase EZH1 isoform 1

Status: REVIEWED

Source sequence(s)

AL590969

UniProtKB/TrEMBL

A0A0R4J1C0
NM_001403822.1 → NP_001390751.1 histone-lysine N-methyltransferase EZH1 isoform 4

Status: REVIEWED

Source sequence(s)

AL590969
NM_007970.4 → NP_031996.1 histone-lysine N-methyltransferase EZH1 isoform 1

See identical proteins and their annotated locations for NP_031996.1

Status: REVIEWED

Source sequence(s)

AL590969

Consensus CDS

CCDS36335.1

UniProtKB/TrEMBL

A0A0R4J1C0

Related

ENSMUSP00000102906.2, ENSMUST00000107285.8

Conserved Domains (5) summary

smart00717
Location:436 → 477

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

smart00317
Location:616 → 737

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG2940
Location:466 → 730

SET; SET domain-containing protein (function unknown) [General function prediction only]

cd00167
Location:436 → 477

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:42 → 70

EZH2_WD-Binding; WD repeat binding protein EZH2