MSH5 - mutS homolog 5 Gene

中文名称：mutS 同系物 5

种属: Homo sapiens

同用名: G7; NG23; POF13; MUTSH5; SPGF74

基因 ID: 4439 | 基因类型: protein coding

关于 MSH5

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,740,005-31,762,676 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 197 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 8.9), bone marrow (RPKM 7.5) and 23 other tissues.

功能概要

该基因编码参与 DNA 错配修复和减数分裂重组的 mutS 蛋白家族成员。这种蛋白质类似于参与减数分裂过程中的分离保真度和交叉事件的酿酒酵母蛋白质。该蛋白在促进电离辐射诱导的细胞凋亡中发挥作用。这种蛋白质与该家族的另一个成员 mutS 同系物 4 形成异源寡聚体。该基因的多态性与多种人类疾病有关，包括 IgA 缺乏症、常见的可变免疫缺陷和卵巢早衰。可变剪接导致多个转录变体。该基因与下游 6 号染色体开放阅读框 26 (C6orf26) 基因之间也存在通读转录。[RefSeq 提供，2011 年 2 月]

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced Apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

MSH5 基因产物(4)

mRNA	Protein	Name
NM_002441.5	NP_002432.1	mutS protein homolog 5 isoform c
NM_025259.6	NP_079535.4	mutS protein homolog 5 isoform a
NM_172165.4	NP_751897.1	mutS protein homolog 5 isoform b
NM_172166.4	NP_751898.1	mutS protein homolog 5 isoform c

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16397227	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

MSH5 蛋白结构

MutS_III

MutS_IV

MutS_V

0
200
400
600
834 a.a.

蛋白主名

其他名称

mutS protein homolog 5

MSH5 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	MSH5	O43196	ABL1	Homo sapiens	P00519	Protein 3 Hybrid	16397227
种属内	MSH5	O43196	ABL1	Homo sapiens	P00519	Anti Bait CoIP	16397227
种属内	MSH5	O43196	ABL1	Homo sapiens	P00519	Y2H	16397227
种属内	MSH5	O43196	ABL1	Homo sapiens	P00519	Anti Tag CoIP	19442657
种属内	MSH5	O43196	ABL1	Homo sapiens	P00519	TAP	16397227
种属内	MSH5	O43196	ABL1	Homo sapiens	P00519	Pull Down	16397227
种属内	MSH5	O43196	ABL1	Homo sapiens	P00519	Anti Bait CoIP	19442657
种属内	MSH5	O43196	MSH4	Homo sapiens	O15457	Anti Bait CoIP	22401567
种属内	MSH5	O43196	MSH4	Homo sapiens	O15457	Y2H	16397227
种属内	MSH5	O43196	MSH4	Homo sapiens	O15457	Protein 3 Hybrid	16397227

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

Premature Ovarian Failure 13

POF13

Spermatogenic Failure 74

SPGF74

Genetic Non-Acquired Premature Ovarian Failure

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Pulmonary Embolism And Infarction

Common Variable Immunodeficiency

Cvid	Common Variable Agammaglobulinemia
Common Variable Immune Deficiency	Acquired Hypogammaglobulinemia
Hypogamma-Globulinemia, Acquired	Idiopathic Immunoglobulin Deficiency
Primary Antibody Deficiency	Primary Hypogammaglobulinemia
Acquired Agammaglobulinemia	Sporadic Hypogammaglobulinemia
Common Variable Hypogamma-Globulinemia	Immunoglobulin Deficiency, Late-Onset
Common Variable Hypogammaglobulinemia	Immunodeficiency, Common Variable

Infertility

Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta	IMD25
Immunodeficiency, Type 25

Transient Hypogammaglobulinemia Of Infancy

Immunoglobulin Maturational Delay

Thi - [Transient Hypogammaglobulinaemia Of Infancy]

Transient Hypogammaglobulinemia

Immunoglobulin A Deficiency 1

Immunoglobulin A Deficiency	Selective Iga Deficiency Disease
Selective Immunoglobulin A Deficiency	IGAD1
Immunoglobulin A, Selective Deficiency Of	Iga, Selective Deficiency Of
Gamma-A-Globulin, Selective Deficiency Of	Selective Iga Immunodeficiency
Selective Iga Deficiency	Iga Deficiency Selective

Immunoglobulin Alpha Deficiency

Iga Deficiency	Gamma-A-Globulin Deficiency
Immunoglobulin A Deficiency

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08712	MSH5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	MSH5	RGD	RGD:1303008
Mus musculus	MSH5	MGD	MGI:1329021

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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）

MSH5 - mutS homolog 5 Gene

关于 MSH5

功能概要

MSH5 基因产物(4)

MSH5 蛋白结构

MSH5 蛋白互作信息

关联疾病

直系同源

热门区域

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MSH5 - mutS homolog 5 Gene

关于 MSH5

功能概要

MSH5 基因产物(4)

MSH5 蛋白结构

MSH5 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z