MUS81 - MUS81 structure-specific endonuclease subunit Gene

中文名称：MUS81 结构特异性核酸内切酶亚基

种属: Homo sapiens

同用名: SLX3

基因 ID: 80198 | 基因类型: protein coding

关于 MUS81

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,859,674-65,867,653 (from NCBI)

This gene has 17 transcripts (splice variants) and 181 orthologues. Ubiquitous expression in spleen (RPKM 12.7), endometrium (RPKM 11.9) and 25 other tissues.

功能概要

该基因编码属于 XPF/MUS81 核酸内切酶家族的结构特异性核酸内切酶，在链间交联、复制叉塌陷和 DNA 双链断裂后 DNA 修复过程中重组中间体的分解中起关键作用。编码的蛋白质与两种密切相关的减数分裂核酸内切酶蛋白 (EME1 或 EME2) 中的一种结合，形成处理 DNA 二级结构的复合物。它包含一个 N 端 DEAH 解旋酶结构域、一个切除修复交叉互补组 4 (ERCC4) 核酸内切酶结构域和两个串联的 C 端螺旋-发夹-螺旋结构域。同源基因纯合敲除的小鼠具有显着的减数分裂缺陷，包括无法修复 DNA 双链断裂的一个子集。[RefSeq 提供，2017 年 6 月]

This gene encodes a structure-specific Endonuclease which belongs to the XPF/MUS81 Endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic Endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) Endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]

MUS81 基因产物(2)

mRNA	Protein	Name
NM_001350283.2	NP_001337212.1	crossover junction endonuclease MUS81 isoform 1
NM_025128.5	NP_079404.3	crossover junction endonuclease MUS81 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 3'-flap endonuclease activity	IMP IMP: 通过突变表型推断	19595721	GOA
enables endonuclease activity	IDA IDA: 通过直接分析推断	19595721	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
acts upstream of or within DNA catabolic process	IMP IMP: 通过突变表型推断	23361013	GOA
involved in DNA repair	IMP IMP: 通过突变表型推断	19596235	GOA
involved in double-strand break repair	IDA IDA: 通过直接分析推断	17289582	GOA
involved in osteoblast proliferation	IMP IMP: 通过突变表型推断	26415217	GOA
involved in replication fork processing	IDA IDA: 通过直接分析推断	17289582	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	17289582	GOA
is active in replication fork	IDA IDA: 通过直接分析推断	28575661	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

MUS81 蛋白结构

ERCC4

0
100
200
300
400
500
551 a.a.

蛋白主名

其他名称

crossover junction endonuclease MUS81

MUS81 endonuclease homolog

MUS81 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	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Y2H Array	29892012
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	19596236
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Y2H Prey Pooling	32296183
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	19596235
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Confocal	19596235
Intra	MUS81	Q96NY9	SLX4	Homo sapiens	Q8IY92	Y2H Array	32296183
Intra	MUS81	Q96NY9	EME1	Homo sapiens	Q96AY2	Anti Tag CoIP	33961781
Intra	MUS81	Q96NY9	EME1	Homo sapiens	Q96AY2	Enzymatic Study	12686547
Intra	MUS81	Q96NY9	EME1	Homo sapiens	Q96AY2	Nuclease Assay	17289582
Intra	MUS81	Q96NY9	FEN1	Homo sapiens	P39748	Anti Tag CoIP	22551069
Intra	MUS81	Q96NY9	FEN1	Homo sapiens	P39748	Pull Down	22551069
Intra	MUS81	Q96NY9	FEN1	Homo sapiens	P39748	IF	22551069
Intra	MUS81	Q96NY9	EME2	Homo sapiens	A4GXA9	Nuclease Assay	17289582

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

Cutis Laxa, Autosomal Recessive, Type Ib

ARCL1B	Cutis Laxa, Autosomal Recessive, Type 1b
Autosomal Recessive Cutis Laxa Type Ib	Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
Cutis Laxa, Autosomal Recessive, 1b	Cutis Laxa Autosomal Recessive Type Ib

Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia	SIOD
Immunoosseous Dysplasia, Schimke Type	Schimke Syndrome
Immunoosseous Dysplasia Schimke Type	Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
Spondyloepiphyseal Dysplasia Nephrotic Syndrome	Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis	KMIN
Kin	Systemic Karyomegaly
Karyomegalic Tubulointerstitial Nephritis	Ktn

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 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

Spastic Paraplegia 4, Autosomal Dominant

SPG4	Hereditary Spastic Paraplegia 4
Fsp2	Autosomal Dominant Spastic Paraplegia Type 4
Familial Spastic Paraplegia, Autosomal Dominant, 2	Autosomal Dominant Spastic Paraplegia 4
Familial Spastic Paraplegia Autosomal Dominant 2	Paraplegia, Spastic, Autosomal Dominant, Type 4

Xeroderma Pigmentosum, Complementation Group F

Xeroderma Pigmentosum, Group F	Xeroderma Pigmentosum Vi
Xp6	Xeroderma Pigmentosum, Type F/Cockayne Syndrome
XPF	Xp, Group F
Xeroderma Pigmentosum Group F	Xp Group F
Xeroderma Pigmentosum, Type 6	Xeroderma Pigmentosum Complementation Group F
XP-F	Xeroderma Pigmentosum Type F/Cockayne Syndrome
XPF/CS

Rapadilino Syndrome

Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate	Radial And Patellar Aplasia
Radial And Patellar Hypoplasia	RAPADILINOS

Chronic Fatigue Syndrome

Myalgic Encephalomyelitis	Postviral Fatigue Syndrome
Cfs	Myalgic Encephalitis
Encephalomyelitis, Myalgic	Chronic Fatigue
Fatigue Syndrome, Chronic	Benign Myalgic Encephalomyelitis
Akureyri	Akureyri Disease
Cfs - [Chronic Fatigue Syndrome]	Epidemic Neuromyasthenia
Myalgic Encephalomyelitis Syndrome	Me - [Myalgic Encephalomyelitis]
Pvfs - [Postviral Fatigue Syndrome]	Neuromyasthenia
Iceland Disease	Icelandic Disease

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

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-163699	MUS81-IN-1	Inhibitor	99.42%	否
HY-RS08851	MUS81 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	MUS81	MGD	MGI:1918961
Canis familiaris	MUS81	VGNC	VGNC:43503
Felis catus	MUS81	VGNC	VGNC:63666
Bos taurus	MUS81	VGNC	VGNC:31762
Macaca mulatta	MUS81	VGNC	VGNC:75041
Rattus norvegicus	MUS81	RGD	RGD:1311957

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MUS81 - MUS81 structure-specific endonuclease subunit Gene

关于 MUS81

功能概要

MUS81 基因产物(2)

MUS81 蛋白结构

MUS81 蛋白互作信息

关联疾病

直系同源

热门区域

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MUS81 - MUS81 structure-specific endonuclease subunit Gene

关于 MUS81

功能概要

MUS81 基因产物(2)

MUS81 蛋白结构

MUS81 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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Z