1. Gene
  2. MSH4 - mutS homolog 4 Gene

MSH4 - mutS homolog 4 Gene

中文名称:mutS 同系物 4

种属: Homo sapiens

同用名: POF20; SPGF2

基因 ID: 4438 | 基因类型: protein coding

关于 MSH4

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:75,796,882-75,913,242 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and 4 paralogues. Biased expression in testis (RPKM 2.6) and small intestine (RPKM 0.1).

功能概要

该基因编码 DNA 错配修复 mutS 家族的成员。该成员是一种减数分裂特异性蛋白,不参与 DNA 错配校正,但在减数分裂 I 时需要同源染色体的相互重组和适当分离。该蛋白和 MSH5 形成异二聚体,该异二聚体独特地结合霍利迪连接点及其发育祖细胞,从而激发 ADP-ATP 交换,并在减数分裂双链断裂修复过程中稳定亲本染色体之间的相互作用。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]

MSH4 基因产物(1)

mRNA Protein Name
NM_002440.4 NP_002431.2 mutS protein homolog 4

MSH4 蛋白结构

MutS_II

MutS_II: MutS domain II (155 - 292)

MutS_III

MutS_III: MutS domain III (315 - 628)

MutS_IV

MutS_IV: MutS family domain IV (493 - 584)

MutS_V

MutS_V: MutS domain V (635 - 870)

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  • 936 a.a.
蛋白主名 其他名称

mutS protein homolog 4

hMSH4

MSH4 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
MSH4 O15457 MSH5 Homo sapiens O43196
Protein 3 Hybrid
16397227
种属内
MSH4 O15457 MSH5 Homo sapiens O43196
Y2H
16397227
种属内
MSH4 O15457 EIF3F Homo sapiens O00303
Pull Down
23725059
种属内
MSH4 O15457 EIF3F Homo sapiens O00303
Y2H
23725059
种属内
MSH4 O15457 EIF3F Homo sapiens O00303
Anti Tag CoIP
23725059
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
Spermatogenic Failure 2

SPGF2

Aspermiogenesis Factor

Asg

Premature Ovarian Failure 20

POF20

Oligospermia
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

Genetic Non-Acquired Premature Ovarian Failure
Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta

IMD25

Immunodeficiency, Type 25

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

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MSH4 VGNC VGNC:74933
Canis familiaris MSH4 VGNC VGNC:43440
Mus musculus MSH4 MGD MGI:1860077
Felis catus MSH4 VGNC VGNC:107586
Rattus norvegicus MSH4 RGD RGD:1309190
Bos taurus MSH4 VGNC VGNC:31695