2. Gene
  3. EME1 - essential meiotic structure-specific endonuclease 1 Gene

EME1 - essential meiotic structure-specific endonuclease 1 Gene

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

中文名称：必需的减数分裂结构特异性核酸内切酶 1

种属: Homo sapiens

同用名: MMS4L; SLX2A

基因 ID: 146956 | 基因类型: protein coding

关于 EME1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,373,229-50,381,483 (from NCBI)

This gene has 10 transcripts (splice variants), 194 orthologues and 1 paralogue. Broad expression in testis (RPKM 5.3), bone marrow (RPKM 3.4) and 25 other tissues.

功能概要

该基因编码一种蛋白质，该蛋白质与甲磺酸甲酯敏感的紫外线敏感 81 蛋白复合，形成核酸内切酶复合物。编码的蛋白质与特定的 DNA 结构相互作用，包括带切口的 Holliday 连接、3'-瓣结构和异常复制叉结构。这种蛋白质可能参与修复 DNA 损伤和维持基因组稳定性。可变剪接导致多个转录变体。[RefSeq 提供，2009 年 10 月]

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an Endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

EME1 基因产物(2)

mRNA Protein Name
NM_001166131.2 NP_001159603.1 crossover junction endonuclease EME1 isoform 1
NM_152463.4 NP_689676.2 crossover junction endonuclease EME1 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding EXP
EXP: 通过实验结果推断
18413719 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12686547 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in double-strand break repair IDA
IDA: 通过直接分析推断
18413719 GOA
involved in replication fork processing IDA
IDA: 通过直接分析推断
18413719 GOA
acts upstream of or within response to intra-S DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
23361013 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of endodeoxyribonuclease complex IPI
IPI: 通过物理相互作用推断
24733841 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

EME1 蛋白结构

ERCC4

ERCC4: ERCC4 domain (257 - 439)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 570 a.a.
蛋白主名 其他名称

crossover junction endonuclease EME1

MMS4 homolog

EME1 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
Intra EME1 Q96AY2 SLX4 Homo sapiens Q8IY92
Anti Tag CoIP
19596236
Intra EME1 Q96AY2 MUS81 Homo sapiens Q96NY9
Gal4 VP16 Complement
17289582
Intra EME1 Q96AY2 MUS81 Homo sapiens Q96NY9
X-Ray Diffraction
24733841
Intra EME1 Q96AY2 MUS81 Homo sapiens Q96NY9
Anti Tag CoIP
19017809
Intra EME1 Q96AY2 MUS81 Homo sapiens Q96NY9
Anti Tag CoIP
12686547
Intra EME1 Q96AY2 MUS81 Homo sapiens Q96NY9
Pull Down
17289582
Intra EME1 Q96AY2 MUS81 Homo sapiens Q96NY9
Anti Tag CoIP
19596236
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
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome
Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04346 EME1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus EME1 MGD MGI:3576783
Macaca mulatta EME1 VGNC VGNC:72107
Rattus norvegicus EME1 RGD RGD:1309067
Canis familiaris EME1 VGNC VGNC:40341
Bos taurus EME1 VGNC VGNC:28470
Felis catus EME1 VGNC VGNC:61841
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