Entity Details

Primary name MSH3_HUMAN
Entity type UniProt
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Details

AccessionP20585
EntryNameMSH3_HUMAN
FullNameDNA mismatch repair protein Msh3
TaxID9606
Evidenceevidence at protein level
Length1137
SequenceStatuscomplete
DateCreated1991-02-01
DateModified2021-06-02

Ontological Relatives

GenesMSH3

GO terms

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GOName
GO:0000710 meiotic mismatch repair
GO:0000735 removal of nonhomologous ends
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006281 DNA repair
GO:0006298 mismatch repair
GO:0006312 mitotic recombination
GO:0007131 reciprocal meiotic recombination
GO:0008094 ATPase, acting on DNA
GO:0016020 membrane
GO:0016447 somatic recombination of immunoglobulin gene segments
GO:0019899 enzyme binding
GO:0032135 DNA insertion or deletion binding
GO:0032300 mismatch repair complex
GO:0032302 MutSbeta complex
GO:0043111 replication fork arrest
GO:0043570 maintenance of DNA repeat elements
GO:0045910 negative regulation of DNA recombination
GO:0051096 positive regulation of helicase activity

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000432 DNA mismatch repair protein MutS, C-terminalDomainDomain
IPR007695 DNA mismatch repair protein MutS-like, N-terminalDomainDomain
IPR007696 DNA mismatch repair protein MutS, coreDomainDomain
IPR007860 DNA mismatch repair protein MutS, connector domainDomainDomain
IPR016151 DNA mismatch repair protein MutS, N-terminalFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036187 DNA mismatch repair protein MutS, core domain superfamilyFamilyHomologous superfamily
IPR036678 MutS, connector domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617100 OMIMFamilial adenomatous polyposis 4 (FAP4)A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
608089 OMIMEndometrial cancer (ENDMC)A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Disease susceptibility is associated with variants affecting the gene represented in this entry.