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Q8IXL7

- MSRB3_HUMAN

UniProt

Q8IXL7 - MSRB3_HUMAN

Protein

Methionine-R-sulfoxide reductase B3

Gene

MSRB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (05 Apr 2011)
      Previous versions | rss
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    Functioni

    Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.2 Publications

    Catalytic activityi

    L-methionine + oxidized thioredoxin = L-methionine R-oxide + reduced thioredoxin.

    Cofactori

    Binds 1 zinc ion per subunit.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi86 – 861ZincBy similarity
    Metal bindingi89 – 891ZincBy similarity
    Metal bindingi135 – 1351ZincBy similarity
    Metal bindingi138 – 1381ZincBy similarity
    Active sitei158 – 1581NucleophileCurated

    GO - Molecular functioni

    1. peptide-methionine (R)-S-oxide reductase activity Source: HGNC
    2. zinc ion binding Source: HGNC

    GO - Biological processi

    1. protein repair Source: HGNC
    2. response to oxidative stress Source: InterPro

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methionine-R-sulfoxide reductase B3 (EC:1.8.4.-)
    Short name:
    MsrB3
    Gene namesi
    Name:MSRB3
    ORF Names:UNQ1965/PRO4487
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:27375. MSRB3.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: HGNC
    2. mitochondrion Source: HGNC

    Keywords - Cellular componenti

    Endoplasmic reticulum, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti89 – 891C → G in DFNB74; abolishes zinc-binding and enzymatic activity. 1 Publication
    VAR_064904

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi141 – 1411H → G: 30-fold reduction in activity. 1 Publication
    Mutagenesisi160 – 1601N → F: 7000-fold reduction in activity. 1 Publication
    Mutagenesisi160 – 1601N → Y: 500-fold reduction in activity. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi613718. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA134991350.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3232Sequence AnalysisAdd
    BLAST
    Chaini33 – 192160Methionine-R-sulfoxide reductase B3PRO_0000327240Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei42 – 421N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8IXL7.
    PaxDbiQ8IXL7.
    PRIDEiQ8IXL7.

    PTM databases

    PhosphoSiteiQ8IXL7.

    Expressioni

    Tissue specificityi

    Widely expressed.2 Publications

    Gene expression databases

    ArrayExpressiQ8IXL7.
    BgeeiQ8IXL7.
    CleanExiHS_MSRB3.
    GenevestigatoriQ8IXL7.

    Organism-specific databases

    HPAiHPA014432.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Protein-protein interaction databases

    IntActiQ8IXL7. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IXL7.
    SMRiQ8IXL7. Positions 49-166.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi189 – 1924Endoplasmic reticulum retention signalBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG0229.
    HOGENOMiHOG000243424.
    HOVERGENiHBG002192.
    KOiK07305.
    OMAiMLEKATW.
    OrthoDBiEOG7VHSZD.
    PhylomeDBiQ8IXL7.
    TreeFamiTF329147.

    Family and domain databases

    Gene3Di2.170.150.20. 1 hit.
    HAMAPiMF_01400. MsrB.
    InterProiIPR028427. Met_Sox_Rdtase.
    IPR002579. Met_Sox_Rdtase_MsrB.
    IPR011057. Mss4-like.
    [Graphical view]
    PANTHERiPTHR10173. PTHR10173. 1 hit.
    PfamiPF01641. SelR. 1 hit.
    [Graphical view]
    SUPFAMiSSF51316. SSF51316. 1 hit.
    TIGRFAMsiTIGR00357. TIGR00357. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IXL7-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSPRRTLPRP LSLCLSLCLC LCLAAALGSA QSGSCRDKKN CKVVFSQQEL    50
    RKRLTPLQYH VTQEKGTESA FEGEYTHHKD PGIYKCVVCG TPLFKSETKF 100
    DSGSGWPSFH DVINSEAITF TDDFSYGMHR VETSCSQCGA HLGHIFDDGP 150
    RPTGKRYCIN SAALSFTPAD SSGTAEGGSG VASPAQADKA EL 192
    Length:192
    Mass (Da):20,702
    Last modified:April 5, 2011 - v2
    Checksum:iC3326F6103369083
    GO
    Isoform 2 (identifier: Q8IXL7-2) [UniParc]FASTAAdd to Basket

    Also known as: B, C, D

    The sequence of this isoform differs from the canonical sequence as follows:
         1-31: MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQ → MSAFNLLHLVTKSQPVALRACGLP

    Note: Has a transit peptide.

    Show »
    Length:185
    Mass (Da):20,010
    Checksum:i37576AFCF88CE227
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti49 – 491E → G in BAH14736. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti89 – 891C → G in DFNB74; abolishes zinc-binding and enzymatic activity. 1 Publication
    VAR_064904

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3131MSPRR…LGSAQ → MSAFNLLHLVTKSQPVALRA CGLP in isoform 2. 3 PublicationsVSP_040883Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS31853.1. [Q8IXL7-2]
    CCDS8973.1. [Q8IXL7-1]
    RefSeqiNP_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]
    UniGeneiHs.339024.

    Genome annotation databases

    EnsembliENST00000308259; ENSP00000312274; ENSG00000174099. [Q8IXL7-2]
    ENST00000355192; ENSP00000347324; ENSG00000174099. [Q8IXL7-1]
    ENST00000535664; ENSP00000441650; ENSG00000174099. [Q8IXL7-2]
    GeneIDi253827.
    KEGGihsa:253827.
    UCSCiuc001ssm.3. human. [Q8IXL7-2]
    uc001ssn.3. human. [Q8IXL7-1]

    Polymorphism databases

    DMDMi327478523.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.339024.

    3D structure databases

    ProteinModelPortali Q8IXL7.
    SMRi Q8IXL7. Positions 49-166.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q8IXL7. 1 interaction.

    PTM databases

    PhosphoSitei Q8IXL7.

    Polymorphism databases

    DMDMi 327478523.

    Proteomic databases

    MaxQBi Q8IXL7.
    PaxDbi Q8IXL7.
    PRIDEi Q8IXL7.

    Protocols and materials databases

    DNASUi 253827.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308259 ; ENSP00000312274 ; ENSG00000174099 . [Q8IXL7-2 ]
    ENST00000355192 ; ENSP00000347324 ; ENSG00000174099 . [Q8IXL7-1 ]
    ENST00000535664 ; ENSP00000441650 ; ENSG00000174099 . [Q8IXL7-2 ]
    GeneIDi 253827.
    KEGGi hsa:253827.
    UCSCi uc001ssm.3. human. [Q8IXL7-2 ]
    uc001ssn.3. human. [Q8IXL7-1 ]

    Organism-specific databases

    CTDi 253827.
    GeneCardsi GC12P065672.
    HGNCi HGNC:27375. MSRB3.
    HPAi HPA014432.
    MIMi 613718. phenotype.
    613719. gene.
    neXtProti NX_Q8IXL7.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA134991350.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0229.
    HOGENOMi HOG000243424.
    HOVERGENi HBG002192.
    KOi K07305.
    OMAi MLEKATW.
    OrthoDBi EOG7VHSZD.
    PhylomeDBi Q8IXL7.
    TreeFami TF329147.

    Miscellaneous databases

    ChiTaRSi MSRB3. human.
    GenomeRNAii 253827.
    NextBioi 92177.
    PROi Q8IXL7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IXL7.
    Bgeei Q8IXL7.
    CleanExi HS_MSRB3.
    Genevestigatori Q8IXL7.

    Family and domain databases

    Gene3Di 2.170.150.20. 1 hit.
    HAMAPi MF_01400. MsrB.
    InterProi IPR028427. Met_Sox_Rdtase.
    IPR002579. Met_Sox_Rdtase_MsrB.
    IPR011057. Mss4-like.
    [Graphical view ]
    PANTHERi PTHR10173. PTHR10173. 1 hit.
    Pfami PF01641. SelR. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51316. SSF51316. 1 hit.
    TIGRFAMsi TIGR00357. TIGR00357. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Esophageal carcinoma, Teratocarcinoma and Uterus.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Uterus.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Pancreas.
    5. "Methionine sulfoxide reduction in mammals: characterization of methionine-R-sulfoxide reductases."
      Kim H.-Y., Gladyshev V.N.
      Mol. Biol. Cell 15:1055-1064(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, COFACTOR, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING.
    6. "Methionine sulfoxide reductases B1, B2, and B3 are present in the human lens and confer oxidative stress resistance to lens cells."
      Marchetti M.A., Pizarro G.O., Sagher D., Deamicis C., Brot N., Hejtmancik J.F., Weissbach H., Kantorow M.
      Invest. Ophthalmol. Vis. Sci. 46:2107-2112(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "Different catalytic mechanisms in mammalian selenocysteine- and cysteine-containing methionine-R-sulfoxide reductases."
      Kim H.-Y., Gladyshev V.N.
      PLoS Biol. 3:2080-2089(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: MUTAGENESIS OF HIS-141 AND ASN-160, SUBUNIT.
    8. "Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74."
      Ahmed Z.M., Yousaf R., Lee B.C., Khan S.N., Lee S., Lee K., Husnain T., Rehman A.U., Bonneux S., Ansar M., Ahmad W., Leal S.M., Gladyshev V.N., Belyantseva I.A., Van Camp G., Riazuddin S., Friedman T.B., Riazuddin S.
      Am. J. Hum. Genet. 88:19-29(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNB74 GLY-89, FUNCTION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiMSRB3_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 96 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3