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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：zeste 1 多梳抑制复合物 2 亚基的增强子

种属: Homo sapiens

同用名: KMT6B

基因 ID: 2145 | 基因类型: protein coding

关于 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.

功能概要

EZH1 是非经典 Polycomb 抑制复合物 2 (PRC2) 的一个组分，它介导组蛋白 H3 (参见 MIM 602812) lys27 (H3K27) 的甲基化，并在维持胚胎干细胞多能性和可塑性方面发挥作用 (Shen 等人，2008 [ PubMed 19026780]) .[OMIM 提供，2009 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone H3K27 methyltransferase activity IMP
IMP: 通过突变表型推断
33514705 GOA
enables molecular condensate scaffold activity IMP
IMP: 通过突变表型推断
33514705 GOA
enables nucleosome binding IMP
IMP: 通过突变表型推断
33514705 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20211142 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ESC/E(Z) complex IDA
IDA: 通过直接分析推断
20075857 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EZH1 蛋白结构

EZH2_WD-Binding

EZH2_WD-Binding: WD repeat binding protein EZH2 (39 - 68)

SET

SET: SET domain (615 - 718)

  • 0
  • 200
  • 400
  • 600
  • 738 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase EZH1

ENX-2

enhancer of zeste homolog 1

EZH1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
EZH1 Q92800 EED Homo sapiens O75530
Anti Tag CoIP
33961781
种属内
EZH1 Q92800 EED Homo sapiens O75530
TAP
24981860
种属内
EZH1 Q92800 EED Homo sapiens O75530
TAP
27705803
种属内
EZH1 Q92800 EED Homo sapiens O75530
Y2H Array
20211142
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Approval
生物活性分子 (2)
目录号 产品名 作用方式
纯度 是否罕见病
HY-109108 Valemetostat Inhibitor 99.84% 否
HY-109108A Valemetostat tosylate Inhibitor 98.14% 否
Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-145602 Tulmimetostat Inhibitor 99.79% Phase 2
Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-15646 UNC1999 Inhibitor 99.83% 否
HY-144881 (S)-HH2853 Inhibitor / 否

直系同源

种属 基因名 来源 基因 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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