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

    Gene ID: 253827, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:27375
    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]
    Expression
    Broad expression in endometrium (RPKM 66.2), esophagus (RPKM 57.7) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MSRB3 in Genome Data Viewer
    Location:
    12q14.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (65278683..65466907)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (65257707..65446355)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65672463..65860687)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:65563126-65563698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4630 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:65564244-65564447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6608 Neighboring gene Sharpr-MPRA regulatory region 14888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4631 Neighboring gene LEM domain containing 3 Neighboring gene MPRA-validated peak1765 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:65655701-65656202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:65656203-65656702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4633 Neighboring gene uncharacterized LOC124902954 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:65824313-65825512 Neighboring gene keratin 18 pseudogene 60 Neighboring gene uncharacterized LOC105369809 Neighboring gene MSRB3 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:65930061-65931260 Neighboring gene uncharacterized LOC105369187 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:65950046-65951245 Neighboring gene uncharacterized LOC105369808

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 74
    MedGen: C2239351 OMIM: 613718 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36866, DKFZp686C1178

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-methionine-(R)-S-oxide reductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide-methionine (R)-S-oxide reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide-methionine (R)-S-oxide reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide-methionine (R)-S-oxide reductase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein repair TAS
    Traceable Author Statement
    more info
     
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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
    XP_024304686.1
    XP_024304687.1
    XP_024304688.1
    XP_024304689.1
    XP_054227626.1
    XP_054227627.1
    XP_054227628.1
    XP_054227629.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5041..193265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031679.3NP_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
      Consensus CDS
      CCDS31853.1
      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000312274.6, ENST00000308259.10
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    2. NM_001193460.2NP_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/TrEMBL
      F5H199
      Related
      ENSP00000441650.1, ENST00000535664.5
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    3. NM_001193461.2NP_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/TrEMBL
      F5H199
      Related
      ENSP00000481483.1, ENST00000614640.4
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    4. NM_198080.4NP_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
      B4DR19, B7ZAQ0, Q6UXS2, Q8IXL7
      Related
      ENSP00000347324.3, ENST00000355192.8
      Conserved Domains (1) summary
      PRK00222
      Location:42170
      PRK00222; methionine sulfoxide reductase B; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      65278683..65466907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448921.2XP_024304689.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000494941.1, ENST00000646299.1
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    2. XM_024448919.2XP_024304687.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000494265.1, ENST00000642411.1
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    3. XM_024448918.2XP_024304686.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000496008.1, ENST00000642404.1
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional
    4. XM_024448920.1XP_024304688.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Conserved Domains (1) summary
      PRK00222
      Location:35163
      PRK00222; methionine sulfoxide reductase B; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      65257707..65446355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371653.1XP_054227628.1  methionine-R-sulfoxide reductase B3 isoform X1

    2. XM_054371651.1XP_054227626.1  methionine-R-sulfoxide reductase B3 isoform X1

    3. XM_054371652.1XP_054227627.1  methionine-R-sulfoxide reductase B3 isoform X1

    4. XM_054371654.1XP_054227629.1  methionine-R-sulfoxide reductase B3 isoform X1