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    MSRB3 methionine sulfoxide reductase B3 [ Homo sapiens (human) ]

    Gene ID: 253827, updated on 6-Dec-2016
    Official Symbol
    MSRB3provided by HGNC
    Official Full Name
    methionine sulfoxide reductase B3provided by HGNC
    Primary source
    HGNC:HGNC:27375
    See related
    Ensembl:ENSG00000174099 MIM:613719; Vega:OTTHUMG00000168866
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB74
    Summary
    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 of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]
    Orthologs
    Location:
    12q14.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (65278643..65466907)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65672423..65860687)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene apolipoprotein O pseudogene 3 Neighboring gene LEM domain containing 3 Neighboring gene keratin 18 pseudogene 60 Neighboring gene uncharacterized LOC100507065 Neighboring gene uncharacterized LOC105369809 Neighboring gene uncharacterized LOC105369187 Neighboring gene uncharacterized LOC105369808

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 74
    MedGen: C2239351 OMIM: 613718 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study for diabetic nephropathy genes in African Americans.
    NHGRI GWA Catalog
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    NHGRI GWA Catalog
    Common variants at 12q14 and 12q24 are associated with hippocampal volume.
    NHGRI GWA Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    NHGRI GWA Catalog
    Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ36866, DKFZp686C1178

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptide-methionine (R)-S-oxide reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide-methionine (R)-S-oxide reductase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    protein repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein repair TAS
    Traceable Author Statement
    more info
     
    response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    methionine-R-sulfoxide reductase B3
    Names
    methionine-R-sulfoxide reductase B3, mitochondrial
    NP_001026849.1
    NP_001180389.1
    NP_001180390.1
    NP_932346.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023441.1 RefSeqGene

      Range
      5001..193265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031679.2NP_001026849.1  methionine-R-sulfoxide reductase B3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001026849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
      Source sequence(s)
      AC025419, AK293084, AY358229, BX648776, DC357690
      Consensus CDS
      CCDS31853.1
      UniProtKB/Swiss-Prot
      Q8IXL7
      Related
      ENSP00000312274, OTTHUMP00000239656, ENST00000308259, OTTHUMT00000401422
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    2. NM_001193460.1NP_001180389.1  methionine-R-sulfoxide reductase B3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001180389.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
      Source sequence(s)
      AC025419, AY358229, BC040053, BX648776, DC357690
      Consensus CDS
      CCDS31853.1
      UniProtKB/Swiss-Prot
      Q8IXL7
      Related
      ENSP00000441650, OTTHUMP00000239659, ENST00000535664, OTTHUMT00000401426
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    3. NM_001193461.1NP_001180390.1  methionine-R-sulfoxide reductase B3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001180390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
      Source sequence(s)
      AC025419, AC026124, AY358229, BX500552, BX648776
      Consensus CDS
      CCDS31853.1
      UniProtKB/Swiss-Prot
      Q8IXL7
      Related
      ENSP00000481483, ENST00000614640
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    4. NM_198080.3NP_932346.1  methionine-R-sulfoxide reductase B3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_932346.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC025419, AY358229, BX648776, DC357690
      Consensus CDS
      CCDS8973.1
      UniProtKB/Swiss-Prot
      Q8IXL7
      Related
      ENSP00000347324, OTTHUMP00000239655, ENST00000355192, OTTHUMT00000401421
      Conserved Domains (1) summary
      PRK00222
      Location:42170
      PRK00222; methionine sulfoxide reductase B; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      65278643..65466907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      65639431..65827664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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