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Q8IXL7

- MSRB3_HUMAN

UniProt

Q8IXL7 - MSRB3_HUMAN

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Protein

Methionine-R-sulfoxide reductase B3

Gene
MSRB3, UNQ1965/PRO4487
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.UniRule annotation

Cofactori

Binds 1 zinc ion per subunit.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi86 – 861Zinc By similarity
Metal bindingi89 – 891Zinc By similarity
Metal bindingi135 – 1351Zinc By similarity
Metal bindingi138 – 1381Zinc By similarity
Active sitei158 – 1581Nucleophile Inferred

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
Complete GO annotation...

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

Isoform 1 : Endoplasmic reticulum 1 Publication
Isoform 2 : Mitochondrion 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: HGNC
  2. mitochondrion Source: HGNC
Complete GO annotation...

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.
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.1 Publication
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 – 3232 Reviewed predictionAdd
BLAST
Chaini33 – 192160Methionine-R-sulfoxide reductase B3UniRule annotationPRO_0000327240Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei42 – 421N6-acetyllysine By 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.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi189 – 1924Endoplasmic reticulum retention signal By 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

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. VSP_040883Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti49 – 491E → G in BAH14736. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 95 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

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