The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only mem... See more...

Aliases for MSRB1 Gene

Aliases for MSRB1 Gene

  • Methionine Sulfoxide Reductase B1 2 3 5
  • Methionine-R-Sulfoxide Reductase B1 3 4
  • Selenoprotein X, 1 2 3
  • Selenoprotein R 2 3
  • SEPX1 3 4
  • Selenoprotein X 4
  • EC 1.8.4.12 4
  • EC 1.8.4.14 4
  • HSPC270 3
  • MsrB1 4
  • SELR 3
  • SELX 3
  • SepR 3
  • SelX 4

External Ids for MSRB1 Gene

Previous HGNC Symbols for MSRB1 Gene

  • SEPX1

Previous GeneCards Identifiers for MSRB1 Gene

  • GC16M001995
  • GC16M001997
  • GC16M001999
  • GC16M002001

Summaries for MSRB1 Gene

Entrez Gene Summary for MSRB1 Gene

  • The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017]

GeneCards Summary for MSRB1 Gene

MSRB1 (Methionine Sulfoxide Reductase B1) is a Protein Coding gene. Diseases associated with MSRB1 include Deafness, Autosomal Recessive 74 and Staphyloenterotoxemia. Among its related pathways are Selenium Metabolism and Selenoproteins and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include actin binding and methionine-R-sulfoxide reductase activity. An important paralog of this gene is MSRB2.

UniProtKB/Swiss-Prot Summary for MSRB1 Gene

  • Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to actin repolymerization in macrophages.

Gene Wiki entry for MSRB1 Gene

Additional gene information for MSRB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSRB1 Gene

Genomics for MSRB1 Gene

GeneHancer (GH) Regulatory Elements for MSRB1 Gene

Promoters and enhancers for MSRB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001937 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.1 +2.2 2247 6.4 CTCF NRF1 POLR2G SP1 NCOR1 BCLAF1 RBAK PHF8 ZNF639 ZBTB5 MSRB1 lnc-RPL3L-1 ENSG00000260778 FAHD1 HAGH ENSG00000261613 piR-32214-229 piR-32214-230 lnc-RPL3L-2 RPL3L
GH16J001944 Enhancer 0.9 ENCODE dbSUPER 500.7 -1.1 -1089 0.2 ZBTB5 REST TAF9B NCOR1 ZNF316 NFIC MAFF FOSL1 PBX2 MAFK MSRB1 piR-32214-230 lnc-RPL3L-2 HAGH lnc-MSRB1-1 RPL3L
GH16J001976 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 -36.3 -36256 1.8 POLR2A GABPA EZH2 DEK KLF9 NFIC POLR2G CHD2 KLF8 ZFHX2 ENSG00000255513 NDUFB10 RPL3L MSRB1 GFER NOXO1 TBL3
GH16J001863 Enhancer 0.8 Ensembl ENCODE 12.2 +79.4 79418 0.3 CTCF REST RAD21 SMC3 ZNF335 ZNF654 RFX5 GLIS1 ARID3A KLF10 HS3ST6 MEIOB MSRB1 RPL3L NDUFB10 SYNGR3 HE856231 ENSG00000260541
GH16J001900 Enhancer 0.8 Ensembl ENCODE 11.7 +42.8 42815 1 SIN3A MYC ZNF592 USF1 CTCF SAP130 FOXA1 PKNOX1 TFAP4 MNT FAHD1 HS3ST6 MSRB1 NDUFB10 RPL3L HAGH lnc-NDUFB10-2 piR-55139
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSRB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MSRB1

Genomic Locations for MSRB1 Gene

Genomic Locations for MSRB1 Gene
chr16:1,938,210-1,943,326
(GRCh38/hg38)
Size:
5,117 bases
Orientation:
Minus strand
chr16:1,988,211-1,993,327
(GRCh37/hg19)
Size:
5,117 bases
Orientation:
Minus strand

Genomic View for MSRB1 Gene

Genes around MSRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSRB1 Gene

Proteins for MSRB1 Gene

  • Protein details for MSRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZV6-MSRB1_HUMAN
    Recommended name:
    Methionine-R-sulfoxide reductase B1
    Protein Accession:
    Q9NZV6
    Secondary Accessions:
    • Q96RX6
    • Q9BTV2
    • Q9P0B1

    Protein attributes for MSRB1 Gene

    Size:
    116 amino acids
    Molecular mass:
    12760 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF28948.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MSRB1 Gene

neXtProt entry for MSRB1 Gene

Post-translational modifications for MSRB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSRB1 Gene

No data available for DME Specific Peptides for MSRB1 Gene

Domains & Families for MSRB1 Gene

Gene Families for MSRB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for MSRB1 Gene

Blocks:
  • Protein of unknown function DUF25
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MSRB1 Gene

GenScript: Design optimal peptide antigens:
  • Selenoprotein X, 1 (D3DU81_HUMAN)
  • Selenoprotein X (MSRB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZV6

UniProtKB/Swiss-Prot:

MSRB1_HUMAN :
  • Belongs to the MsrB Met sulfoxide reductase family.
Family:
  • Belongs to the MsrB Met sulfoxide reductase family.
genes like me logo Genes that share domains with MSRB1: view

Function for MSRB1 Gene

Molecular function for MSRB1 Gene

UniProtKB/Swiss-Prot Function:
Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to actin repolymerization in macrophages.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thioredoxin]-disulfide + H2O + L-methionyl-[protein] = [thioredoxin]-dithiol + L-methionyl-(R)-S-oxide-[protein]; Xref=Rhea:RHEA:24164, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, Rhea:RHEA-COMP:12313, Rhea:RHEA-COMP:12314, ChEBI:CHEBI:15377, ChEBI:CHEBI:16044, ChEBI:CHEBI:29950, ChEBI:CHEBI:45764, ChEBI:CHEBI:50058; EC=1.8.4.12; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thioredoxin]-disulfide + H2O + L-methionine = [thioredoxin]-dithiol + L-methionine (R)-S-oxide; Xref=Rhea:RHEA:21260, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57844, ChEBI:CHEBI:58773; EC=1.8.4.14; Evidence=. ;.

Enzyme Numbers (IUBMB) for MSRB1 Gene

Phenotypes From GWAS Catalog for MSRB1 Gene

Gene Ontology (GO) - Molecular Function for MSRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,ISS --
GO:0005515 protein binding IPI 23805218
GO:0008270 zinc ion binding IEA,ISS 14699060
GO:0016491 oxidoreductase activity IEA --
GO:0033743 peptide-methionine (R)-S-oxide reductase activity IEA,ISS --
genes like me logo Genes that share ontologies with MSRB1: view
genes like me logo Genes that share phenotypes with MSRB1: view

Animal Models for MSRB1 Gene

MGI Knock Outs for MSRB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MSRB1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSRB1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MSRB1 Gene

Localization for MSRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSRB1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSRB1 gene
Compartment Confidence
cytosol 5
nucleus 4
extracellular 3
cytoskeleton 3
mitochondrion 2
endoplasmic reticulum 2
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MSRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MSRB1: view

Pathways & Interactions for MSRB1 Gene

genes like me logo Genes that share pathways with MSRB1: view

Pathways by source for MSRB1 Gene

2 Reactome pathways for MSRB1 Gene

Gene Ontology (GO) - Biological Process for MSRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030041 actin filament polymerization ISS,IEA --
GO:0030091 protein repair TAS,IEA --
GO:0045087 innate immune response ISS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MSRB1: view

No data available for SIGNOR curated interactions for MSRB1 Gene

Drugs & Compounds for MSRB1 Gene

(10) Drugs for MSRB1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methionine Approved Nutra Enzyme, substrate 114
Selenium Approved, Investigational, Vet_approved Pharma 226
Selenocysteine Experimental Pharma 0

(2) Additional Compounds for MSRB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MSRB1: view

Transcripts for MSRB1 Gene

mRNA/cDNA for MSRB1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSRB1

Alternative Splicing Database (ASD) splice patterns (SP) for MSRB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for MSRB1 Gene

GeneLoc Exon Structure for
MSRB1

Expression for MSRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MSRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSRB1 Gene

This gene is overexpressed in Whole Blood (x24.9).

Protein differential expression in normal tissues from HIPED for MSRB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (62.0) and Monocytes (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MSRB1 Gene



Protein tissue co-expression partners for MSRB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MSRB1

SOURCE GeneReport for Unigene cluster for MSRB1 Gene:

Hs.655346

Evidence on tissue expression from TISSUES for MSRB1 Gene

  • Blood(4.5)
  • Skin(4.2)
  • Liver(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MSRB1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MSRB1 Gene

Orthologs for MSRB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MSRB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPX1 31 30
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPX1 30
  • 87.43 (n)
mouse
(Mus musculus)
Mammalia Msrb1 17 31 30
  • 86.78 (n)
cow
(Bos Taurus)
Mammalia SEPX1 30
  • 86.78 (n)
rat
(Rattus norvegicus)
Mammalia Msrb1 30
  • 86.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MSRB1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSRB1 31 30
  • 83.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSRB1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msrb1 30
  • 69.35 (n)
Str.3291 30
zebrafish
(Danio rerio)
Actinopterygii msrb1a 31 30
  • 72.33 (n)
OneToMany
msrb1b 31
  • 69 (a)
OneToMany
sepx1 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.650 30
Species where no ortholog for MSRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MSRB1 Gene

ENSEMBL:
Gene Tree for MSRB1 (if available)
TreeFam:
Gene Tree for MSRB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MSRB1: view image

Paralogs for MSRB1 Gene

Paralogs for MSRB1 Gene

(2) SIMAP similar genes for MSRB1 Gene using alignment to 4 proteins:

  • MSRB1_HUMAN
  • A8MYR2_HUMAN
  • H3BS64_HUMAN
  • H3BTT6_HUMAN

Pseudogenes.org Pseudogenes for MSRB1 Gene

genes like me logo Genes that share paralogs with MSRB1: view

Variants for MSRB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MSRB1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
761571 Likely Benign: not provided 1,941,326(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MSRB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MSRB1 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV duplication 17116639
nsv519366 CNV loss 19592680
nsv571178 CNV loss 21841781
nsv833120 CNV loss 17160897
nsv952901 CNV deletion 24416366

Variation tolerance for MSRB1 Gene

Residual Variation Intolerance Score: 67.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.41; 71.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MSRB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSRB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSRB1 Gene

Disorders for MSRB1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MSRB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 74
  • dfnb74
staphyloenterotoxemia
  • staphylococcal food poisoning
deafness, autosomal recessive 86
  • dfnb86
keshan disease
  • caused by deficiency of selenium in the diet
rigid spine muscular dystrophy 1
  • rss
- elite association - COSMIC cancer census association via MalaCards
Search MSRB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MSRB1

genes like me logo Genes that share disorders with MSRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MSRB1 Gene

Publications for MSRB1 Gene

  1. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif. (PMID: 10608886) Lescure A … Krol A (The Journal of biological chemistry 1999) 2 3 4 54
  2. Diversity of protein and mRNA forms of mammalian methionine sulfoxide reductase B1 due to intronization and protein processing. (PMID: 20634897) Liang X … Gladyshev VN (PloS one 2010) 2 3 54
  3. Up-regulation of ADM and SEPX1 in the lymphoblastoid cells of patients in monozygotic twins discordant for schizophrenia. (PMID: 18081029) Kakiuchi C … Kato T (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 23 54
  4. Neutrophil granulocytes uniquely express, among human blood cells, high levels of Methionine-sulfoxide-reductase enzymes. (PMID: 17938273) Achilli C … Minetti G (Journal of leukocyte biology 2008) 3 23 54
  5. Alternative first exon splicing regulates subcellular distribution of methionine sulfoxide reductases. (PMID: 16542431) Kim HY … Gladyshev VN (BMC molecular biology 2006) 23 26 54

Products for MSRB1 Gene

Sources for MSRB1 Gene