UniProtKB - Q8IXL7 (MSRB3_HUMAN)
Protein
Methionine-R-sulfoxide reductase B3
Gene
MSRB3
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.2 Publications
Catalytic activityi
- [thioredoxin]-disulfide + H2O + L-methionyl-[protein] = [thioredoxin]-dithiol + L-methionyl-(R)-S-oxide-[protein]By similarityEC:1.8.4.12By similarity
- [thioredoxin]-disulfide + H2O + L-methionine = [thioredoxin]-dithiol + L-methionine (R)-S-oxideBy similarityEC:1.8.4.14By similarity
Cofactori
Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 86 | ZincPROSITE-ProRule annotation | 1 | |
Metal bindingi | 89 | ZincPROSITE-ProRule annotation | 1 | |
Metal bindingi | 135 | ZincPROSITE-ProRule annotation | 1 | |
Metal bindingi | 138 | ZincPROSITE-ProRule annotation | 1 | |
Active sitei | 158 | NucleophilePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- L-methionine-(R)-S-oxide reductase activity Source: UniProtKB-EC
- peptide-methionine (R)-S-oxide reductase activity Source: HGNC-UCL
- zinc ion binding Source: HGNC-UCL
GO - Biological processi
- protein repair Source: HGNC-UCL
- response to oxidative stress Source: InterPro
Keywordsi
Molecular function | Oxidoreductase |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 1.8.4.12, 2681 1.8.4.B3, 2681 |
PathwayCommonsi | Q8IXL7 |
Reactomei | R-HSA-5676934, Protein repair |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:MSRB3 ORF Names:UNQ1965/PRO4487 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:27375, MSRB3 |
MIMi | 613719, gene |
neXtProti | NX_Q8IXL7 |
VEuPathDBi | HostDB:ENSG00000174099.10 |
Subcellular locationi
Endoplasmic reticulum
Mitochondrion
Cytosol
- cytosol Source: Reactome
Endoplasmic reticulum
- endoplasmic reticulum Source: HGNC-UCL
Mitochondrion
- mitochondrion Source: HGNC-UCL
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
Endoplasmic reticulum, MitochondrionPathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 74 (DFNB74)1 Publication
The disease is caused by variants affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.
Disease descriptionA form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064904 | 89 | C → G in DFNB74; abolishes zinc-binding and enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs387907088Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 141 | H → G: 30-fold reduction in activity. 1 Publication | 1 | |
Mutagenesisi | 160 | N → F: 7000-fold reduction in activity. 1 Publication | 1 | |
Mutagenesisi | 160 | N → Y: 500-fold reduction in activity. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 253827 |
MalaCardsi | MSRB3 |
MIMi | 613718, phenotype |
OpenTargetsi | ENSG00000174099 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134991350 |
Miscellaneous databases
Pharosi | Q8IXL7, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3509604 |
Genetic variation databases
BioMutai | MSRB3 |
DMDMi | 327478523 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 32 | Sequence analysisAdd BLAST | 32 | |
ChainiPRO_0000327240 | 33 – 192 | Methionine-R-sulfoxide reductase B3Add BLAST | 160 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 42 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 183 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q8IXL7 |
jPOSTi | Q8IXL7 |
MassIVEi | Q8IXL7 |
MaxQBi | Q8IXL7 |
PaxDbi | Q8IXL7 |
PeptideAtlasi | Q8IXL7 |
PRIDEi | Q8IXL7 |
ProteomicsDBi | 71024 [Q8IXL7-1] 71025 [Q8IXL7-2] |
PTM databases
iPTMneti | Q8IXL7 |
PhosphoSitePlusi | Q8IXL7 |
Expressioni
Tissue specificityi
Widely expressed.2 Publications
Gene expression databases
Bgeei | ENSG00000174099, Expressed in myometrium and 215 other tissues |
ExpressionAtlasi | Q8IXL7, baseline and differential |
Genevisiblei | Q8IXL7, HS |
Organism-specific databases
HPAi | ENSG00000174099, Tissue enhanced (smooth) |
Interactioni
Subunit structurei
Monomer.
1 PublicationBinary interactionsi
Hide detailsQ8IXL7
With | #Exp. | IntAct |
---|---|---|
GOLGA2 [Q08379] | 3 | EBI-8634060,EBI-618309 |
PRDM4 [Q9UKN5] | 3 | EBI-8634060,EBI-2803427 |
TCF4 [P15884] | 3 | EBI-8634060,EBI-533224 |
TRIP6 [Q15654] | 3 | EBI-8634060,EBI-742327 |
Isoform 2 [Q8IXL7-2]
Protein-protein interaction databases
BioGRIDi | 128990, 74 interactors |
IntActi | Q8IXL7, 46 interactors |
MINTi | Q8IXL7 |
STRINGi | 9606.ENSP00000347324 |
Miscellaneous databases
RNActi | Q8IXL7, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8IXL7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 47 – 169 | MsrBPROSITE-ProRule annotationAdd BLAST | 123 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 189 – 192 | Endoplasmic reticulum retention signalBy similarity | 4 |
Sequence similaritiesi
Belongs to the MsrB Met sulfoxide reductase family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG0856, Eukaryota |
GeneTreei | ENSGT00940000155240 |
InParanoidi | Q8IXL7 |
OMAi | DEQWRAE |
OrthoDBi | 1549489at2759 |
PhylomeDBi | Q8IXL7 |
TreeFami | TF329147 |
Family and domain databases
HAMAPi | MF_01400, MsrB, 1 hit |
InterProi | View protein in InterPro IPR028427, Met_Sox_Rdtase IPR002579, Met_Sox_Rdtase_MsrB IPR011057, Mss4-like_sf |
PANTHERi | PTHR10173, PTHR10173, 1 hit |
Pfami | View protein in Pfam PF01641, SelR, 1 hit |
SUPFAMi | SSF51316, SSF51316, 1 hit |
TIGRFAMsi | TIGR00357, TIGR00357, 1 hit |
PROSITEi | View protein in PROSITE PS51790, MSRB, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8IXL7-1) [UniParc]FASTAAdd to basket
Also known as: A
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSPRRTLPRP LSLCLSLCLC LCLAAALGSA QSGSCRDKKN CKVVFSQQEL
60 70 80 90 100
RKRLTPLQYH VTQEKGTESA FEGEYTHHKD PGIYKCVVCG TPLFKSETKF
110 120 130 140 150
DSGSGWPSFH DVINSEAITF TDDFSYGMHR VETSCSQCGA HLGHIFDDGP
160 170 180 190
RPTGKRYCIN SAALSFTPAD SSGTAEGGSG VASPAQADKA EL
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YFW5 | H0YFW5_HUMAN | Peptide-methionine (R)-S-oxide redu... | MSRB3 | 174 | Annotation score: | ||
F5H6G9 | F5H6G9_HUMAN | Peptide-methionine (R)-S-oxide redu... | MSRB3 | 160 | Annotation score: | ||
F5H199 | F5H199_HUMAN | Peptide-methionine (R)-S-oxide redu... | MSRB3 | 164 | Annotation score: | ||
H7C2B7 | H7C2B7_HUMAN | Peptide-methionine (R)-S-oxide redu... | MSRB3 | 117 | Annotation score: | ||
F5H7C4 | F5H7C4_HUMAN | L-methionine (R)-S-oxide reductase | MSRB3 | 117 | Annotation score: | ||
A0A2R8Y7J8 | A0A2R8Y7J8_HUMAN | L-methionine (R)-S-oxide reductase | MSRB3 | 84 | Annotation score: | ||
F5H4C9 | F5H4C9_HUMAN | Methionine-R-sulfoxide reductase B3 | MSRB3 | 44 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 49 | E → G in BAH14736 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064904 | 89 | C → G in DFNB74; abolishes zinc-binding and enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs387907088Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040883 | 1 – 31 | MSPRR…LGSAQ → MSAFNLLHLVTKSQPVALRA CGLP in isoform 2. 3 PublicationsAdd BLAST | 31 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358229 mRNA Translation: AAQ88596.1 AK293084 mRNA Translation: BAF85773.1 AK299065 mRNA Translation: BAG61131.1 AK316365 mRNA Translation: BAH14736.1 BX648776 mRNA Translation: CAI46018.1 BC040053 mRNA Translation: AAH40053.1 |
CCDSi | CCDS31853.1 [Q8IXL7-2] CCDS8973.1 [Q8IXL7-1] |
RefSeqi | NP_001026849.1, NM_001031679.2 [Q8IXL7-2] NP_001180389.1, NM_001193460.1 [Q8IXL7-2] NP_001180390.1, NM_001193461.1 [Q8IXL7-2] NP_932346.1, NM_198080.3 [Q8IXL7-1] |
Genome annotation databases
Ensembli | ENST00000308259; ENSP00000312274; ENSG00000174099 [Q8IXL7-2] ENST00000355192; ENSP00000347324; ENSG00000174099 [Q8IXL7-1] ENST00000535664; ENSP00000441650; ENSG00000174099 [Q8IXL7-2] ENST00000614640; ENSP00000481483; ENSG00000174099 [Q8IXL7-2] ENST00000642404; ENSP00000496008; ENSG00000174099 [Q8IXL7-2] ENST00000642411; ENSP00000494265; ENSG00000174099 [Q8IXL7-2] ENST00000646299; ENSP00000494941; ENSG00000174099 [Q8IXL7-2] |
GeneIDi | 253827 |
KEGGi | hsa:253827 |
UCSCi | uc001ssm.3, human [Q8IXL7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358229 mRNA Translation: AAQ88596.1 AK293084 mRNA Translation: BAF85773.1 AK299065 mRNA Translation: BAG61131.1 AK316365 mRNA Translation: BAH14736.1 BX648776 mRNA Translation: CAI46018.1 BC040053 mRNA Translation: AAH40053.1 |
CCDSi | CCDS31853.1 [Q8IXL7-2] CCDS8973.1 [Q8IXL7-1] |
RefSeqi | NP_001026849.1, NM_001031679.2 [Q8IXL7-2] NP_001180389.1, NM_001193460.1 [Q8IXL7-2] NP_001180390.1, NM_001193461.1 [Q8IXL7-2] NP_932346.1, NM_198080.3 [Q8IXL7-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6QA0 | X-ray | 1.71 | A/B | 31-169 | [»] | |
SMRi | Q8IXL7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 128990, 74 interactors |
IntActi | Q8IXL7, 46 interactors |
MINTi | Q8IXL7 |
STRINGi | 9606.ENSP00000347324 |
Chemistry databases
ChEMBLi | CHEMBL3509604 |
PTM databases
iPTMneti | Q8IXL7 |
PhosphoSitePlusi | Q8IXL7 |
Genetic variation databases
BioMutai | MSRB3 |
DMDMi | 327478523 |
Proteomic databases
EPDi | Q8IXL7 |
jPOSTi | Q8IXL7 |
MassIVEi | Q8IXL7 |
MaxQBi | Q8IXL7 |
PaxDbi | Q8IXL7 |
PeptideAtlasi | Q8IXL7 |
PRIDEi | Q8IXL7 |
ProteomicsDBi | 71024 [Q8IXL7-1] 71025 [Q8IXL7-2] |
Protocols and materials databases
Antibodypediai | 2870, 119 antibodies |
DNASUi | 253827 |
Genome annotation databases
Organism-specific databases
CTDi | 253827 |
DisGeNETi | 253827 |
GeneCardsi | MSRB3 |
HGNCi | HGNC:27375, MSRB3 |
HPAi | ENSG00000174099, Tissue enhanced (smooth) |
MalaCardsi | MSRB3 |
MIMi | 613718, phenotype 613719, gene |
neXtProti | NX_Q8IXL7 |
OpenTargetsi | ENSG00000174099 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134991350 |
VEuPathDBi | HostDB:ENSG00000174099.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0856, Eukaryota |
GeneTreei | ENSGT00940000155240 |
InParanoidi | Q8IXL7 |
OMAi | DEQWRAE |
OrthoDBi | 1549489at2759 |
PhylomeDBi | Q8IXL7 |
TreeFami | TF329147 |
Enzyme and pathway databases
BRENDAi | 1.8.4.12, 2681 1.8.4.B3, 2681 |
PathwayCommonsi | Q8IXL7 |
Reactomei | R-HSA-5676934, Protein repair |
Miscellaneous databases
BioGRID-ORCSi | 253827, 5 hits in 990 CRISPR screens |
ChiTaRSi | MSRB3, human |
GenomeRNAii | 253827 |
Pharosi | Q8IXL7, Tbio |
PROi | PR:Q8IXL7 |
RNActi | Q8IXL7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174099, Expressed in myometrium and 215 other tissues |
ExpressionAtlasi | Q8IXL7, baseline and differential |
Genevisiblei | Q8IXL7, HS |
Family and domain databases
HAMAPi | MF_01400, MsrB, 1 hit |
InterProi | View protein in InterPro IPR028427, Met_Sox_Rdtase IPR002579, Met_Sox_Rdtase_MsrB IPR011057, Mss4-like_sf |
PANTHERi | PTHR10173, PTHR10173, 1 hit |
Pfami | View protein in Pfam PF01641, SelR, 1 hit |
SUPFAMi | SSF51316, SSF51316, 1 hit |
TIGRFAMsi | TIGR00357, TIGR00357, 1 hit |
PROSITEi | View protein in PROSITE PS51790, MSRB, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MSRB3_HUMAN | |
Accessioni | Q8IXL7Primary (citable) accession number: Q8IXL7 Secondary accession number(s): B4DR19, B7ZAQ0, Q6UXS2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | April 5, 2011 | |
Last modified: | April 7, 2021 | |
This is version 150 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families