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

    Gene ID: 253827, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Ahmed ZM, et al. Am J Hum Genet, 2011 Jan 7. PMID 21185009, Free PMC Article
    2. Identification of an antimicrobial peptide from human methionine sulfoxide reductase B3. Kim Y, et al. BMB Rep, 2011 Oct. PMID 22027001
    3. Methionine sulfoxide reductase B in the endoplasmic reticulum is critical for stress resistance and aging in Drosophila. Lim DH, et al. Biochem Biophys Res Commun, 2012 Mar 2. PMID 22310715
    4. Methionine sulfoxide reductase B3 protects from endoplasmic reticulum stress in Drosophila and in mammalian cells. Kwak GH, et al. Biochem Biophys Res Commun, 2012 Mar 30. PMID 22405767
    5. DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15. Waryah AM, et al. Clin Genet, 2009 Sep. PMID 19650862

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal Podocyte Injury via Targeting Methionine Sulfoxide Reductase B3.
      Title: MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal Podocyte Injury via Targeting Methionine Sulfoxide Reductase B3.
    2. MSRB3 promotes the progression of clear cell renal cell carcinoma via regulating endoplasmic reticulum stress.
      Title: MSRB3 promotes the progression of clear cell renal cell carcinoma via regulating endoplasmic reticulum stress.
    3. individuals with MSRB3 rs61921502 minor allele had increased odds for brain infarcts on MRI compared to those with no minor allele
      Title: Methionine Sulfoxide Reductase-B3 Risk Allele Implicated in Alzheimer's Disease Associates with Increased Odds for Brain Infarcts.
    4. we characterise the mammalian enzyme Msr B3. There are two splice variants of this enzyme that differ only in their N-terminal signal sequence, which directs the protein to either the endoplasmic reticulum (ER) or mitochondria
      Title: Methionine sulfoxide reductase B3 requires resolving cysteine residues for full activity and can act as a stereospecific methionine oxidase.
    5. This characterization of GWAS-implicated MSRB3 protein expression in human hippocampus suggests that patterns of neuronal and vascular MsrB3 protein expression reflect or underlie pathology associated with Alzheimer disease.
      Title: Methionine Sulfoxide Reductase-B3 (MsrB3) Protein Associates with Synaptic Vesicles and its Expression Changes in the Hippocampi of Alzheimer's Disease Patients.
    6. Oncogene induction in differentiated cells induces massive DNA damage, mammary stem cells are resistant, owing to a preemptive program driven by ZEB1 and MSRB3. The prevention of oncogene-induced DNA damage precludes induction of the oncosuppressive p53-dependent DNA-damage response, thereby increasing stem cells' intrinsic susceptibility to malignant transformation.
      Title: A stemness-related ZEB1-MSRB3 axis governs cellular pliancy and breast cancer genome stability.
    7. The data suggest that MsrB3 attenuates HO-1 induction by inhibiting reactive oxygen species production, endoplasmic reticulum stress, and Nrf2 activation.
      Title: Methionine sulfoxide reductase B3 deficiency stimulates heme oxygenase-1 expression via ROS-dependent and Nrf2 activation pathways.
    8. MsrB3 plays an important role in cancer cell survival through the modulation of the intrinsic apoptosis pathway.
      Title: Down-regulation of MsrB3 induces cancer cell apoptosis through reactive oxygen species production and intrinsic mitochondrial pathway activation.
    9. Taken together, our results suggest that MsrB3 plays a critical role in cancer cell apoptosis through the modulation of ER stress status.
      Title: MsrB3 deficiency induces cancer cell apoptosis through p53-independent and ER stress-dependent pathways.
    10. MsrB3 deficiency activates the cell cycle inhibitors p21 and p27.
      Title: Methionine sulfoxide reductase B3 deficiency inhibits cell growth through the activation of p53-p21 and p27 pathways.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_001031679.3 → NP_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:35 → 163
      PRK00222; methionine sulfoxide reductase B; Provisional

    2. NM_001193460.2 → NP_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:35 → 163
      PRK00222; methionine sulfoxide reductase B; Provisional

    3. NM_001193461.2 → NP_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:35 → 163
      PRK00222; methionine sulfoxide reductase B; Provisional

    4. NM_198080.4 → NP_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:42 → 170
      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_024448921.2 → XP_024304689.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000494941.1, ENST00000646299.1
      Conserved Domains (1) summary
      PRK00222
      Location:35 → 163
      PRK00222; methionine sulfoxide reductase B; Provisional

    2. XM_024448919.2 → XP_024304687.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000494265.1, ENST00000642411.1
      Conserved Domains (1) summary
      PRK00222
      Location:35 → 163
      PRK00222; methionine sulfoxide reductase B; Provisional

    3. XM_024448918.2 → XP_024304686.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Related
      ENSP00000496008.1, ENST00000642404.1
      Conserved Domains (1) summary
      PRK00222
      Location:35 → 163
      PRK00222; methionine sulfoxide reductase B; Provisional

    4. XM_024448920.1 → XP_024304688.1  methionine-R-sulfoxide reductase B3 isoform X1

      UniProtKB/TrEMBL
      F5H199
      Conserved Domains (1) summary
      PRK00222
      Location:35 → 163
      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_054371653.1 → XP_054227628.1  methionine-R-sulfoxide reductase B3 isoform X1

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

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXL7.2 GenPept UniProtKB/Swiss-Prot:Q8IXL7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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