EZH1 - enhancer of zeste 1 polycomb repressive complex 2 subunit Gene

Homo sapiens

Also known as KMT6B

Gene ID: 2145 | Gene type: protein coding

About EZH1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,700,275-42,745,040 (from NCBI)

This gene has 24 transcripts (splice variants), 234 orthologues and 19 paralogues. Ubiquitous expression in ovary (RPKM 23.1), fat (RPKM 20.0) and 25 other tissues.

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]

EZH1 Products(7)

mRNA	Protein	Name
XM_005257145.3	XP_005257202.1	histone-lysine N-methyltransferase EZH1 isoform X2
XM_047435594.1	XP_047291550.1	histone-lysine N-methyltransferase EZH1 isoform X3
NM_001991.5	NP_001982.2	histone-lysine N-methyltransferase EZH1 isoform 1
NM_001321082.2	NP_001308011.1	histone-lysine N-methyltransferase EZH1 isoform 3
NM_001321079.2	NP_001308008.1	histone-lysine N-methyltransferase EZH1 isoform 2
XM_011524517.3	XP_011522819.1	histone-lysine N-methyltransferase EZH1 isoform X1
NM_001321081.2	NP_001308010.1	histone-lysine N-methyltransferase EZH1 isoform 4

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone H3K27 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	33514705	GOA
enables molecular condensate scaffold activity	IMP IMP: Inferred from mutant phenotype	33514705	GOA
enables nucleosome binding	IMP IMP: Inferred from mutant phenotype	33514705	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20211142	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ESC/E(Z) complex	IDA IDA: Inferred from direct assay	20075857	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EZH1 Protein Structure

EZH2_WD-Binding

SET

0
200
400
600
738 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase EZH1

ENX-2

enhancer of zeste homolog 1

EZH1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EZH1	Q92800	EED	Homo sapiens	O75530	Anti Tag CoIP	33961781
Intra	EZH1	Q92800	EED	Homo sapiens	O75530	TAP	24981860
Intra	EZH1	Q92800	EED	Homo sapiens	O75530	TAP	27705803
Intra	EZH1	Q92800	EED	Homo sapiens	O75530	Y2H Array	20211142

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109108	Valemetostat	Inhibitor	99.84%	Unkown
HY-109108A	Valemetostat tosylate	Inhibitor	98.14%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-145602	Tulmimetostat	Inhibitor	99.79%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15646	UNC1999	Inhibitor	99.83%	Unkown
HY-144881	(S)-HH2853	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EZH1	VGNC	VGNC:40540
Mus musculus	EZH1	MGD	MGI:1097695
Bos taurus	EZH1	VGNC	VGNC:28674
Rattus norvegicus	EZH1	RGD	RGD:1305028
Felis catus	EZH1	VGNC	VGNC:62017
Macaca mulatta	EZH1	VGNC	VGNC:72457

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