MSRB3
entrez
253827
canonical
uniprot
Q8IXL7
canonical
ensembl
ENSG00000174099
resolver
ensp
ENSP00000312274
resolver
ensp
ENSP00000347324
resolver
ensp
ENSP00000441650
resolver
ensp
ENSP00000481483
resolver
ensp
ENSP00000494265
resolver
ensp
ENSP00000494941
resolver
ensp
ENSP00000496008
resolver
genesymbol
MSRB3
resolver
hgnc
HGNC:27375
resolver
uniprot
B4DR19
resolver
uniprot
B7ZAQ0
resolver
uniprot
Q6UXS2
resolver
uniprot_entry
MSRB3_HUMAN
resolver
uniprot_sec
B4DR19
resolver
uniprot_sec
B7ZAQ0
resolver
uniprot_sec
Q6UXS2
resolver
amino_acid_sequence
MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSAALSFTPADSSGTAEGGSGVASPAQADKAEL
uniprot
proteins
disease_involvement
DISEASE: Deafness, 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 variants affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.
uniprot
proteins
ec_number
1.8.4.12
uniprot
proteins
ec_number
1.8.4.14
uniprot
proteins
function
FUNCTION: Catalyzes 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}.
uniprot
proteins
mass_dalton
20702
uniprot
proteins
mutagenesis
MUTAGEN 141; /note="H->G: 30-fold reduction in activity."; /evidence="ECO:0000269|PubMed:16262444"; MUTAGEN 160; /note="N->F: 7000-fold reduction in activity."; /evidence="ECO:0000269|PubMed:16262444"; MUTAGEN 160; /note="N->Y: 500-fold reduction in activity."; /evidence="ECO:0000269|PubMed:16262444
uniprot
proteins
protein_family
MsrB Met sulfoxide reductase family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14699060
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15914630
uniprot
proteins
pubmed
16262444
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21185009
uniprot
proteins
sequence_length
192
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum.; SUBCELLULAR LOCATION: [Isoform 2]: Mitochondrion.
uniprot
proteins