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

Gene ID: 253827, updated on 13-Feb-2019

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
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

Genomic context

See MSRB3 in Genome Data Viewer
Location:
12q14.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (65278593..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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36866, DKFZp686C1178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-methionine-(R)-S-oxide reductase activity IEA
Inferred from Electronic Annotation
more info
 
peptide-methionine (R)-S-oxide reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide-methionine (R)-S-oxide reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
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
cellular response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 

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_024304690.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000312274.5, ENST00000308259.9
    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
    ENSP00000441650.1, ENST00000535664.5
    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
    ENSP00000481483.1, ENST00000614640.4
    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
    ENSP00000347324.3, ENST00000355192.8
    Conserved Domains (1) summary
    PRK00222
    Location:42170
    PRK00222; methionine sulfoxide reductase B; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    65278593..65466907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448922.1XP_024304690.1  methionine-R-sulfoxide reductase B3 isoform X2

    Conserved Domains (1) summary
    cl15841
    Location:86138
    SelR; SelR domain
  2. XM_024448919.1XP_024304687.1  methionine-R-sulfoxide reductase B3 isoform X1

    Related
    ENSP00000494265.1, ENST00000642411.1
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  3. XM_024448921.1XP_024304689.1  methionine-R-sulfoxide reductase B3 isoform X1

    Related
    ENSP00000494941.1, ENST00000646299.1
    Conserved Domains (1) summary
    PRK00222
    Location:35163
    PRK00222; methionine sulfoxide reductase B; Provisional
  4. XM_024448918.1XP_024304686.1  methionine-R-sulfoxide reductase B3 isoform X1

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

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