• Gene id: 253827

Gene Summary

• Gene Symbol: MSRB3   Gene   UCSC   Ensembl
• Aliases: DFNB74
• Gene name: methionine sulfoxide reductase B3
• Alternate names: methionine-R-sulfoxide reductase B3, methionine-R-sulfoxide reductase B3, mitochondrial,
• Gene location: 12q14.3 (65278592: 65466906)     Exons: 11     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One o
• OMIM: 613719

Protein Summary

• Protein general information: Q8IXL7  
  • Name: Methionine R sulfoxide reductase B3 (MsrB3) (EC 1.8.4.12) (EC 1.8.4.14)
  • Length: 192  
  • Mass: 20702
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEY
  THHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQCGAHLGHIFDDGP
  RPTGKRYCINSAALSFTPADSSGTAEGGSGVASPAQADKAEL

• Structural information:
  • Protein Domains: (47..16-)
    (/note="MsrB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01126"-)
  • Interpro: IPR028427  IPR002579  IPR011057  
  • Prosite: PS51790
  • PDB: 6QA0
  • PDBsum: 6QA0
  • STRING: ENSP00000347324
• Other Databases: GeneCards:  MSRB3  Malacards:  MSRB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0033743	peptide-methionine (R)-S-oxide reductase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0030091	protein repair	IDA	biological process
GO:0033743	peptide-methionine (R)-S-oxide reductase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016671	oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	IEA	molecular function
GO:0030091	protein repair	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0033743	peptide-methionine (R)-S-oxide reductase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0033745	L-methionine-(R)-S-oxide reductase activity	IEA	molecular function
GO:0033743	peptide-methionine (R)-S-oxide reductase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0030091	protein repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)