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MSRA methionine sulfoxide reductase A [ Homo sapiens (human) ]

Gene ID: 4482, updated on 7-Jun-2020

Summary

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Official Symbol
MSRAprovided by HGNC
Official Full Name
methionine sulfoxide reductase Aprovided by HGNC
Primary source
HGNC:HGNC:7377
See related
Ensembl:ENSG00000175806 MIM:601250
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
PMSR
Summary
This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression
Broad expression in kidney (RPKM 12.0), bone marrow (RPKM 3.1) and 21 other tissues See more
Orthologs
mouse all

Genomic context

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See MSRA in Genome Data Viewer
Location:
8p23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (10054224..10428891)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (9911830..10286401)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene microRNA 124-1 Neighboring gene uncharacterized LOC105379234 Neighboring gene transmembrane protein 126A pseudogene Neighboring gene uncharacterized LOC112268021 Neighboring gene uncharacterized LINCR-0001 Neighboring gene RNA, U6 small nuclear 729, pseudogene Neighboring gene serine protease 52, pseudogene

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
  • 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. Myristoylated methionine sulfoxide reductase A is a late endosomal protein. Lim JM, et al. J Biol Chem, 2018 May 11. PMID 29593096, Free PMC Article
  2. Methionine sulfoxide reductase A (MsrA) associated with bipolar I disorder and executive functions in A Han Chinese population. Ni P, et al. J Affect Disord, 2015 Sep 15. PMID 26117066
  3. Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children. Albuquerque D, et al. J Hum Genet, 2014 Jun. PMID 24670271
  4. Methionine sulfoxide reductase A rs10903323 G/A polymorphism is associated with increased risk of coronary artery disease in a Chinese population. Gu H, et al. Clin Biochem, 2013 Nov. PMID 23880405
  5. Methionine sulfoxide reductase A as a marker for isolating subpopulations of stem and progenitor cells used in regenerative medicine. Hu B, et al. Med Hypotheses, 2013 May. PMID 23415806

See all (70) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Three SNPs (RUNX3 rs7553295 G > T, AMD1 rs1279590 G > A and MSRA rs73534533 C > A) were replicated in the validation dataset, and their meta-analysis showed an adjusted hazards ratio [HR] of 0.82 [95% confidence interval (CI) =0.75-0.89] and pmeta = 2.86 x 10(-6) , 0.81 (0.73-0.91) and pmeta = 4.63 x 10(-4) , and 0.77 (0.68-0.89) and pmeta = 2.07 x 10(-4) , respectively).
    Title: Genetic variants in RUNX3, AMD1 and MSRA in the methionine metabolic pathway and survival in nonsmall cell lung cancer patients.
  2. myristoylated MSRA is a late endosomal protein that may play a role in lipid metabolism or may protect endosomal proteins from oxidative damage.
    Title: Myristoylated methionine sulfoxide reductase A is a late endosomal protein.
  3. Data show that miR-193b, by directly targeting focal adhesion kinase (FAK), CRK-like proto-oncogene (CRKL), and methionine sulfoxide reductase A (MSRA), regulates focal adhesion signaling and ROS signaling, which play pivotal roles in liposarcomagenesis and adipogenic differentiation.
    Title: miR-193b-Regulated Signaling Networks Serve as Tumor Suppressors in Liposarcoma and Promote Adipogenesis in Adipose-Derived Stem Cells.
  4. this study we have identified, for the first time, compounds structurally related to the natural products fusaricidins that markedly activate recombinant bovine and human MsrA and human MsrB.
    Title: Identification of activators of methionine sulfoxide reductases A and B.
  5. The association of MsrA haplotypes with executive functions indicated that MsrA is associated with executive function defects in bipolar I disorder patients.
    Title: Methionine sulfoxide reductase A (MsrA) associated with bipolar I disorder and executive functions in A Han Chinese population.
  6. Silencing the expression of the main Msr elements-MsrA, MsrB1, or MsrB2 exacerbates sensitivity toward oxidative stress.
    Title: Proteome alteration in oxidative stress-sensitive methionine sulfoxide reductase-silenced HEK293 cells.
  7. ARD1 has a crucial role in the cellular response to oxidative stress as a bona fide regulator of MSRA.
    Title: Arrest defective 1 regulates the oxidative stress response in human cells and mice by acetylating methionine sulfoxide reductase A.
  8. The functional MSRA rs10903323 G/A polymorphism is associated with coronary artery disease development.
    Title: Methionine sulfoxide reductase A rs10903323 G/A polymorphism is associated with increased risk of coronary artery disease in a Chinese population.
  9. We hypothesize that the activity of MsrA can be employed as a marker for the isolation of stem and progenitor cell subpopulations for cell therapy applications.
    Title: Methionine sulfoxide reductase A as a marker for isolating subpopulations of stem and progenitor cells used in regenerative medicine.
  10. The MSRA rs10903323 G/A variant allele is associated with Rheumatoid Arthritis development, especially among male patients, older patients, C-Reactive Protein-positive patients, and anti-cyclic citrullinated peptide negative patients.
    Title: MSRA polymorphism is associated with the risk of rheumatoid arthritis in a Chinese population.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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

NHGRI GWAS Catalog

Description
A genome-wide association study for quantitative traits in schizophrenia in China.
NHGRI GWA Catalog
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
NHGRI GWA Catalog
Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study.
NHGRI GWA Catalog
Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
NHGRI GWA Catalog
Genetic variants associated with disordered eating.
NHGRI GWA Catalog
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog
Genome-wide association study of blood pressure and hypertension.
NHGRI GWA Catalog
Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
NHGRI GWA 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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of methionine sulfoxide reductase A (MSRA) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-methionine-(S)-S-oxide reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peptide-methionine (S)-S-oxide reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peptide-methionine (S)-S-oxide reductase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
cellular protein modification process TAS
Traceable Author Statement
more info
 PubMed 
cellular response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
methionine metabolic process TAS
Traceable Author Statement
more info
 PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
  
protein repair TAS
Traceable Author Statement
more info
  
response to oxidative stress TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
extracellular exosome HDA PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
  
membrane IEA
Inferred from Electronic Annotation
more info
  
mitochondrion IEA
Inferred from Electronic Annotation
more info
  
nuclear body IDA
Inferred from Direct Assay
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
mitochondrial peptide methionine sulfoxide reductase
Names
cytosolic methionine-S-sulfoxide reductase
peptide Met(O) reductase
peptide met (O) reductase
peptide-methionine (S)-S-oxide reductase
NP_001129142.1
NP_001129143.1
NP_001186658.1
NP_036463.1
XP_011542124.1
XP_011542125.1
XP_016868937.1
XP_016868938.1
XP_016868939.1
XP_016868940.1
XP_024302930.1

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.

mRNA and Protein(s)

  1. NM_001135670.3 → NP_001129142.1  mitochondrial peptide methionine sulfoxide reductase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AC023385, AC034111, AC112673
    Consensus CDS
    CCDS47798.1
    UniProtKB/Swiss-Prot
    Q9UJ68
    Related
    ENSP00000410912.2, ENST00000441698.6
    Conserved Domains (1) summary
    cl00366
    Location:30 → 192
    PMSR; Peptide methionine sulfoxide reductase

  2. NM_001135671.3 → NP_001129143.1  mitochondrial peptide methionine sulfoxide reductase isoform c

    See identical proteins and their annotated locations for NP_001129143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC023385, AC079200, AC112673
    Consensus CDS
    CCDS47799.1
    UniProtKB/Swiss-Prot
    Q9UJ68
    Related
    ENSP00000371930.5, ENST00000382490.9
    Conserved Domains (1) summary
    PRK00058
    Location:1 → 189
    PRK00058; methionine sulfoxide reductase A; Provisional

  3. NM_001199729.3 → NP_001186658.1  mitochondrial peptide methionine sulfoxide reductase isoform d

    See identical proteins and their annotated locations for NP_001186658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC023385, AC079200, AC112673
    Consensus CDS
    CCDS56522.1
    UniProtKB/Swiss-Prot
    Q9UJ68
    Related
    ENSP00000436839.1, ENST00000528246.5
    Conserved Domains (1) summary
    PRK00058
    Location:2 → 166
    PRK00058; methionine sulfoxide reductase A; Provisional

  4. NM_012331.5 → NP_036463.1  mitochondrial peptide methionine sulfoxide reductase isoform a precursor

    See identical proteins and their annotated locations for NP_036463.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC023385, AC034111, AC079200, AC112673
    Consensus CDS
    CCDS5975.1
    UniProtKB/Swiss-Prot
    Q9UJ68
    Related
    ENSP00000313921.4, ENST00000317173.9
    Conserved Domains (1) summary
    PRK00058
    Location:30 → 232
    PRK00058; methionine sulfoxide reductase A; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    10054224..10428891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013448.2 → XP_016868937.1  mitochondrial peptide methionine sulfoxide reductase isoform X3

  2. XM_011543822.2 → XP_011542124.1  mitochondrial peptide methionine sulfoxide reductase isoform X1

    Conserved Domains (1) summary
    cl00366
    Location:30 → 182
    PMSR; Peptide methionine sulfoxide reductase

  3. XM_011543823.2 → XP_011542125.1  mitochondrial peptide methionine sulfoxide reductase isoform X2

    Conserved Domains (1) summary
    cl00366
    Location:30 → 181
    PMSR; Peptide methionine sulfoxide reductase

  4. XM_024447162.1 → XP_024302930.1  mitochondrial peptide methionine sulfoxide reductase isoform X6

    Conserved Domains (1) summary
    cl00366
    Location:30 → 110
    PMSR; Peptide methionine sulfoxide reductase

  5. XM_017013451.2 → XP_016868940.1  mitochondrial peptide methionine sulfoxide reductase isoform X5

  6. XM_017013449.2 → XP_016868938.1  mitochondrial peptide methionine sulfoxide reductase isoform X4

    UniProtKB/Swiss-Prot
    Q9UJ68
    Conserved Domains (1) summary
    PRK00058
    Location:2 → 166
    PRK00058; methionine sulfoxide reductase A; Provisional

  7. XM_017013450.2 → XP_016868939.1  mitochondrial peptide methionine sulfoxide reductase isoform X4

    UniProtKB/Swiss-Prot
    Q9UJ68
    Conserved Domains (1) summary
    PRK00058
    Location:2 → 166
    PRK00058; methionine sulfoxide reductase A; Provisional

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    2918137..3294116 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJ68.1 GenPept UniProtKB/Swiss-Prot:Q9UJ68

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