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MGP006868

UniProt Annotations

Entry Information
Gene Namemethionine sulfoxide reductase B3
Protein EntryMSRB3_HUMAN
UniProt IDQ8IXL7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A; IsoId=Q8IXL7-1; Sequence=Displayed; Name=2; Synonyms=B, C, D; IsoId=Q8IXL7-2; Sequence=VSP_040883; Note=Has a transit peptide.;
Catalytic ActivityL-methionine + oxidized thioredoxin = L- methionine R-oxide + reduced thioredoxin.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:14699060}; Note=Binds 1 zinc ion per subunit. {ECO:0000269|PubMed:14699060};
DiseaseDeafness, autosomal recessive, 74 (DFNB74) [MIM:613718]: A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:21185009}. Note=The disease is caused by mutations affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.
FunctionCatalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing. {ECO:0000269|PubMed:14699060, ECO:0000269|PubMed:21185009}.
SimilarityBelongs to the MsrB Met sulfoxide reductase family. {ECO:0000305}.
Subcellular LocationIsoform 1: Endoplasmic reticulum.
Subcellular LocationIsoform 2: Mitochondrion.
SubunitMonomer. {ECO:0000269|PubMed:16262444}.
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:15914630, ECO:0000269|PubMed:21185009}.
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