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Q80T11

- USH1G_MOUSE

UniProt

Q80T11 - USH1G_MOUSE

Protein

Usher syndrome type-1G protein homolog

Gene

Ush1g

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Functioni

    Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. protein homodimerization activity Source: MGI
    3. spectrin binding Source: MGI

    GO - Biological processi

    1. equilibrioception Source: Ensembl
    2. inner ear morphogenesis Source: MGI
    3. inner ear receptor cell differentiation Source: MGI
    4. photoreceptor cell maintenance Source: Ensembl
    5. sensory perception of light stimulus Source: Ensembl
    6. sensory perception of sound Source: MGI

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Usher syndrome type-1G protein homolog
    Alternative name(s):
    Jackson shaker protein
    Scaffold protein containing ankyrin repeats and SAM domain
    Gene namesi
    Name:Ush1g
    Synonyms:Sans
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 11

    Organism-specific databases

    MGIiMGI:2450757. Ush1g.

    Subcellular locationi

    Cytoplasmcytosol. Cytoplasmcytoskeleton. Cell membrane; Peripheral membrane protein
    Note: Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15.

    GO - Cellular componenti

    1. actin cytoskeleton Source: HGNC
    2. cytoplasm Source: MGI
    3. cytosol Source: UniProtKB-SubCell
    4. membrane Source: MGI
    5. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Ush1g are the cause of the Jackson shaker phenotypes (js). Jackson shaker mice carry recessive mutations predicted to inactivate Ush1g by frameshift resulting in a truncated protein lacking the C-terminal SAM domain. The js phenotype is characterized by deafness, abnormal behavior (circling and/or head-tossing) and degeneration of inner ear neuroepithelia. Defects in the formation of protein complex including Ush1g may disrupt stereocilia bundle in js mice.

    Disruption phenotypei

    Mice are deaf, due to defects in hair cell bundles in the cochlea. They develop circling behavior, probably due to balance problems.1 Publication

    Keywords - Diseasei

    Deafness

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 461461Usher syndrome type-1G protein homologPRO_0000067078Add
    BLAST

    Proteomic databases

    PRIDEiQ80T11.

    PTM databases

    PhosphoSiteiQ80T11.

    Expressioni

    Tissue specificityi

    Detected in stereocilia from cochlear hair cells (at protein level). Highly expressed in the cochlea, testis, cerebellum and eye, and low levels in brain, thymus and spleen. Significant signals detected in the neurosensory epithelium of inner ear cochlea and saccule, especially in inner and outer hair cells.3 Publications

    Developmental stagei

    Low-level expression detected in E17.5 embryos but not in embryos earlier than E15.5.

    Gene expression databases

    BgeeiQ80T11.
    CleanExiMM_USH1G.
    GenevestigatoriQ80T11.

    Interactioni

    Subunit structurei

    Interacts with USH1C (via the first PDZ domain). Interacts with PDZD7. Interacts with MYO7A By similarity. Interacts with CDH23 and PCDH15; these interactions may recruit USH1G to the plasma membrane.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Myo7aP974794EBI-7418889,EBI-1149557
    Ush1cQ9ES64-33EBI-7418889,EBI-7418919

    Protein-protein interaction databases

    BioGridi200868. 1 interaction.
    IntActiQ80T11. 2 interactions.
    MINTiMINT-1896722.

    Structurei

    3D structure databases

    ProteinModelPortaliQ80T11.
    SMRiQ80T11. Positions 3-178, 388-461.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati31 – 6030ANK 1Add
    BLAST
    Repeati64 – 9330ANK 2Add
    BLAST
    Repeati97 – 12630ANK 3Add
    BLAST
    Domaini385 – 44763SAMAdd
    BLAST

    Sequence similaritiesi

    Contains 3 ANK repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    GeneTreeiENSGT00390000017548.
    HOGENOMiHOG000007847.
    HOVERGENiHBG051882.
    InParanoidiQ80T11.
    OMAiMKGHMEC.
    OrthoDBiEOG70GMFR.
    PhylomeDBiQ80T11.
    TreeFamiTF324946.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    1.25.40.20. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view]
    PfamiPF12796. Ank_2. 1 hit.
    PF00536. SAM_1. 1 hit.
    [Graphical view]
    SMARTiSM00248. ANK. 3 hits.
    SM00454. SAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q80T11-1 [UniParc]FASTAAdd to Basket

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    MNDQYHRAAR DGYLELLKEA TRKELNAPDE DGMTPTLWAA YHGNLESLRL    50
    IVSRGGDPDK CDIWGNTPLH LAASNGHLHC LSFLVSFGAN IWCLDNDYHT 100
    PLDMAAMKGH MECVRYLDSI AAKQSSLNPK LVGKLKDKAF REAERRIREC 150
    AKMQRKHHER MERRYRRELA ERSDTLSFSS LTSSTLSRRL QHMTLGSQLP 200
    YSQATLHGTA KGKAKIQKKL ERRKQGGEGT FKVSEDGRKS VRSLSGLQLG 250
    SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD 300
    SGHDSLFTRP GLGTMVFRRN YVSSGLHGLG REDGGLDGAG TPRGRLHSSP 350
    SLDDDSLGSA NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH 400
    MEDFASLLRH EKIDLEALML CSDLDLRSIS VPLGPRKKIL GAVRRRRQAL 450
    ERPLALEDTE L 461
    Length:461
    Mass (Da):51,490
    Last modified:June 1, 2003 - v1
    Checksum:i8C5C4467802F35DB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti176 – 1761L → F in BAC57426. (PubMed:12588793)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB087502 mRNA. Translation: BAC57430.1.
    AB087501 Genomic DNA. Translation: BAC57426.1.
    CCDSiCCDS25627.1.
    RefSeqiNP_789817.1. NM_176847.3.
    XP_006532376.1. XM_006532313.1.
    UniGeneiMm.451539.

    Genome annotation databases

    EnsembliENSMUST00000103037; ENSMUSP00000099326; ENSMUSG00000045288.
    GeneIDi16470.
    KEGGimmu:16470.
    UCSCiuc007mhc.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB087502 mRNA. Translation: BAC57430.1 .
    AB087501 Genomic DNA. Translation: BAC57426.1 .
    CCDSi CCDS25627.1.
    RefSeqi NP_789817.1. NM_176847.3.
    XP_006532376.1. XM_006532313.1.
    UniGenei Mm.451539.

    3D structure databases

    ProteinModelPortali Q80T11.
    SMRi Q80T11. Positions 3-178, 388-461.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 200868. 1 interaction.
    IntActi Q80T11. 2 interactions.
    MINTi MINT-1896722.

    PTM databases

    PhosphoSitei Q80T11.

    Proteomic databases

    PRIDEi Q80T11.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000103037 ; ENSMUSP00000099326 ; ENSMUSG00000045288 .
    GeneIDi 16470.
    KEGGi mmu:16470.
    UCSCi uc007mhc.1. mouse.

    Organism-specific databases

    CTDi 124590.
    MGIi MGI:2450757. Ush1g.

    Phylogenomic databases

    eggNOGi COG0666.
    GeneTreei ENSGT00390000017548.
    HOGENOMi HOG000007847.
    HOVERGENi HBG051882.
    InParanoidi Q80T11.
    OMAi MKGHMEC.
    OrthoDBi EOG70GMFR.
    PhylomeDBi Q80T11.
    TreeFami TF324946.

    Miscellaneous databases

    NextBioi 289753.
    PROi Q80T11.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q80T11.
    CleanExi MM_USH1G.
    Genevestigatori Q80T11.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    1.25.40.20. 1 hit.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view ]
    Pfami PF12796. Ank_2. 1 hit.
    PF00536. SAM_1. 1 hit.
    [Graphical view ]
    SMARTi SM00248. ANK. 3 hits.
    SM00454. SAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, POSSIBLE FUNCTION.
    2. "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin."
      Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C.
      Hum. Mol. Genet. 12:463-471(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USH1C, POSSIBLE FUNCTION.
    3. "Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia."
      Caberlotto E., Michel V., Foucher I., Bahloul A., Goodyear R.J., Pepermans E., Michalski N., Perfettini I., Alegria-Prevot O., Chardenoux S., Do Cruzeiro M., Hardelin J.P., Richardson G.P., Avan P., Weil D., Petit C.
      Proc. Natl. Acad. Sci. U.S.A. 108:5825-5830(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CDH23 AND PCDH15.
    4. "Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
      Grati M., Kachar B.
      Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiUSH1G_MOUSE
    AccessioniPrimary (citable) accession number: Q80T11
    Secondary accession number(s): Q80UG0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 93 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3