Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MSRB3 contributors: mct - updated : 12-07-2010
HGNC name methionine sulfoxide reductase B3
HGNC id 27375
Corresponding disease
DFNB74 neurosensory deafness 7 4
Location 12q14.3      Physical location : 65.672.422 - 65.860.680
Synonym name methionine-R-sulfoxide reductase B3, mitochondrial
Synonym symbol(s) LOC253827, FLJ36866, DKFZp686C1178
EC.number 1.8.4.-
DNA
TYPE functioning gene
STRUCTURE 188.27 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 4369 - 185 found in the ER 2004 15249228
  • isoform B
  • Isoforms B, C, and D have an identical N terminus that is encoded by exon 3, and contain a predicted mitochondrial localization signal also encoded by exon 3
  • 6 - 4242 - 192 mitochondrial 2004 15249228
  • isoform a
  • N-terminus has a predicted endoplasmic reticulum localization signal (AAs 131), whereas the remaining peptide encodes a methionine sulfoxide reductase (Msr domain) that catalyzes the reduction of oxidized methionine AAs and thus repairs oxidatively damaged proteins
  • 8 - 4598 - 185 - 2004 15249228
  • isoform C
  • Isoforms B, C, and D have an identical N terminus that is encoded by exon 3, and contain a predicted mitochondrial localization signal also encoded by exon 3
  • 7 - 4296 - 185 - 2004 15249228
  • isoform D
  • Isoforms B, C, and D have an identical N terminus that is encoded by exon 3, and contain a predicted mitochondrial localization signal also encoded by exon 3
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Digestiveintestinesmall intestine   
     intestinelarge intestinecolon  
    Hearing/EquilibriumearinnercochleaCorti  Homo sapiens
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systemuteruscervix  
    Urinarykidney    
    Visualeyelens    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Msrb3 (93.4pc)
    Homologene
    FAMILY
  • msrB Met sulfoxide reductase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text localized in the endoplasmic reticulum and mitochondria
    basic FUNCTION
  • catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine
  • with SEPX1, and MSRB2, required for lens cell viability, and their silencing in lens cells results in increased oxidative-stress-induced cell death
  • important as antioxidant/repair systems for neutrophils, cells with enormous capacity for the generation of reactive oxidants and hence, susceptible to oxidative damage
  • repair enzymes that protect proteins from oxidative stress by catalyzing stereospecific reduction of oxidized methionine residues
  • MSRB3-catalyzed reduction of methionine sulfoxides to methionine is essential for hearing
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binding one Zn2+ per subunit
  • protein
  • interaction with selenocompounds which can serve as oxidoreductants
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB74
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS