InnateDB Protein
|
IDBP-589653.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
MSRB3
|
Protein Name
|
methionine sulfoxide reductase B3
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000441650
|
InnateDB Gene
|
IDBG-45323 (MSRB3)
|
Protein Structure
|
|
Function |
Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing. {ECO:0000269PubMed:14699060, ECO:0000269PubMed:21185009}.
|
Subcellular Localization |
Isoform 1: Endoplasmic reticulum.Isoform 2: Mitochondrion.
|
Disease Associations |
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:0000269PubMed: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.
|
Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:15914630, ECO:0000269PubMed:21185009}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0008270
|
zinc ion binding
|
GO:0033743
|
peptide-methionine (R)-S-oxide reductase activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR002579
Peptide methionine sulphoxide reductase MrsB
IPR011057
Mss4-like
|
PFAM |
PF01641
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8IXL7
|
PhosphoSite |
PhosphoSite-Q8IXL7
|
TrEMBL |
Q6MZU8
|
UniProt Splice Variant |
|
Entrez Gene |
253827
|
UniGene |
Hs.639220
|
RefSeq |
|
HUGO |
HGNC:27375
|
OMIM |
613719
|
CCDS |
CCDS31853
|
HPRD |
14785
|
IMGT |
|
EMBL |
AC025419
AC026124
AC079948
AK293084
AK299065
AK316365
AY358229
BC040053
BX640871
BX648776
|
GenPept |
AAH40053
AAQ88596
BAF85773
BAG61131
BAH14736
CAE45929
CAI46018
|
|
|