Entity Details

Primary name MSH5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43196
EntryNameMSH5_HUMAN
FullNameMutS protein homolog 5
TaxID9606
Evidenceevidence at protein level
Length834
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesMSH5

GO terms

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GOName
GO:0000228 nuclear chromosome
GO:0000710 meiotic mismatch repair
GO:0005524 ATP binding
GO:0007131 reciprocal meiotic recombination
GO:0008094 ATPase, acting on DNA
GO:0030983 mismatched DNA binding

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000432 DNA mismatch repair protein MutS, C-terminalDomainDomain
IPR007696 DNA mismatch repair protein MutS, coreDomainDomain
IPR007861 DNA mismatch repair protein MutS, clampDomainDomain
IPR011184 DNA mismatch repair Msh2-typeFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036187 DNA mismatch repair protein MutS, core domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617442 OMIMPremature ovarian failure 13 (POF13)An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease is caused by variants affecting the gene represented in this entry.