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Q495M9

- USH1G_HUMAN

UniProt

Q495M9 - USH1G_HUMAN

Protein

Usher syndrome type-1G protein

Gene

USH1G

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (13 Sep 2005)
      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.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. spectrin binding Source: MGI

    GO - Biological processi

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

    Keywords - Biological processi

    Hearing

    Enzyme and pathway databases

    SignaLinkiQ495M9.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Usher syndrome type-1G protein
    Alternative name(s):
    Scaffold protein containing ankyrin repeats and SAM domain
    Gene namesi
    Name:USH1G
    Synonyms:SANS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:16356. USH1G.

    Subcellular locationi

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

    GO - Cellular componenti

    1. actin cytoskeleton Source: HGNC
    2. cytosol Source: UniProtKB-SubCell
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Usher syndrome 1G (USH1G) [MIM:606943]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481L → P in USH1G. 1 Publication
    VAR_023739
    Natural varianti458 – 4581D → V in USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C. 1 Publication
    VAR_060468

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi307 – 3071F → E: Reduced affinity for MYO7A. 1 Publication
    Mutagenesisi317 – 3171F → E: Reduced affinity for MYO7A. 1 Publication
    Mutagenesisi374 – 3741W → Q: Strongly reduced affinity for MYO7A. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

    Organism-specific databases

    MIMi276900. phenotype.
    606943. phenotype.
    Orphaneti231169. Usher syndrome type 1.
    PharmGKBiPA38126.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 461461Usher syndrome type-1G proteinPRO_0000067077Add
    BLAST

    Proteomic databases

    PaxDbiQ495M9.
    PRIDEiQ495M9.

    PTM databases

    PhosphoSiteiQ495M9.

    Expressioni

    Tissue specificityi

    Expressed in vestibule of the inner ear, eye and small intestine.1 Publication

    Gene expression databases

    ArrayExpressiQ495M9.
    BgeeiQ495M9.
    CleanExiHS_USH1G.
    GenevestigatoriQ495M9.

    Organism-specific databases

    HPAiHPA024360.

    Interactioni

    Subunit structurei

    Interacts with CDH23 and PCDH15; these interactions may recruit USH1G to the plasma membrane By similarity. Interacts with USH1C (via the first PDZ domain) and with USH1G. Interacts with PDZD7. Interacts with MYO7A. Part of a complex composed of USH1C, USH1G and MYO7A.By similarity5 Publications

    Protein-protein interaction databases

    DIPiDIP-41617N.
    MINTiMINT-257481.
    STRINGi9606.ENSP00000320076.

    Structurei

    Secondary structure

    1
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi307 – 3093
    Turni310 – 3123
    Beta strandi313 – 3153
    Beta strandi375 – 3773
    Helixi391 – 3977
    Turni398 – 4003
    Helixi402 – 4043
    Helixi405 – 4106
    Helixi415 – 4184
    Helixi423 – 4286
    Helixi433 – 45119
    Beta strandi459 – 4613

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2L7TNMR-A370-380[»]
    3K1RX-ray2.30B388-461[»]
    3PVLX-ray2.80B295-390[»]
    ProteinModelPortaliQ495M9.
    SMRiQ495M9. Positions 3-178, 388-461.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ495M9.

    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

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi444 – 4474Poly-Arg

    Sequence similaritiesi

    Contains 3 ANK repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOGENOMiHOG000007847.
    HOVERGENiHBG051882.
    InParanoidiQ495M9.
    OMAiMKGHMEC.
    OrthoDBiEOG70GMFR.
    PhylomeDBiQ495M9.
    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.

    Q495M9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNDQYHRAAR DGYLELLKEA TRKELNAPDE DGMTPTLWAA YHGNLESLRL    50
    IVSRGGDPDK CDIWGNTPLH LAASNGHLHC LSFLVSFGAN IWCLDNDYHT 100
    PLDMAAMKGH MECVRYLDSI AAKQSSLNPK LVGKLKDKAF REAERRIREC 150
    AKLQRRHHER MERRYRRELA ERSDTLSFSS LTSSTLSRRL QHLALGSHLP 200
    YSQATLHGTA RGKTKMQKKL ERRKQGGEGT FKVSEDGRKS ARSLSGLQLG 250
    SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD 300
    SGHDSLFTRP GLGTMVFRRN YLSSGLHGLG REDGGLDGVG APRGRLQSSP 350
    SLDDDSLGSA NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH 400
    MEDFAALLRQ EKIDLEALML CSDLDLRSIS VPLGPRKKIL GAVRRRRQAM 450
    ERPPALEDTE L 461
    Length:461
    Mass (Da):51,489
    Last modified:September 13, 2005 - v1
    Checksum:iB0ABB9F5711A5095
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti300 – 3001D → N in BAC03619. (PubMed:14702039)Curated
    Sequence conflicti402 – 4021E → G in BAC03619. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481L → P in USH1G. 1 Publication
    VAR_023739
    Natural varianti458 – 4581D → V in USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C. 1 Publication
    VAR_060468

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091243 mRNA. Translation: BAC03619.1.
    BC101096 mRNA. Translation: AAI01097.1.
    BC101097 mRNA. Translation: AAI01098.1.
    BC101098 mRNA. Translation: AAI01099.1.
    BC101099 mRNA. Translation: AAI01100.1.
    CCDSiCCDS32725.1.
    RefSeqiNP_001269418.1. NM_001282489.2.
    NP_775748.2. NM_173477.4.
    UniGeneiHs.376688.

    Genome annotation databases

    EnsembliENST00000319642; ENSP00000320076; ENSG00000182040.
    GeneIDi124590.
    KEGGihsa:124590.
    UCSCiuc002jme.1. human.

    Polymorphism databases

    DMDMi81175048.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091243 mRNA. Translation: BAC03619.1 .
    BC101096 mRNA. Translation: AAI01097.1 .
    BC101097 mRNA. Translation: AAI01098.1 .
    BC101098 mRNA. Translation: AAI01099.1 .
    BC101099 mRNA. Translation: AAI01100.1 .
    CCDSi CCDS32725.1.
    RefSeqi NP_001269418.1. NM_001282489.2.
    NP_775748.2. NM_173477.4.
    UniGenei Hs.376688.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2L7T NMR - A 370-380 [» ]
    3K1R X-ray 2.30 B 388-461 [» ]
    3PVL X-ray 2.80 B 295-390 [» ]
    ProteinModelPortali Q495M9.
    SMRi Q495M9. Positions 3-178, 388-461.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-41617N.
    MINTi MINT-257481.
    STRINGi 9606.ENSP00000320076.

    PTM databases

    PhosphoSitei Q495M9.

    Polymorphism databases

    DMDMi 81175048.

    Proteomic databases

    PaxDbi Q495M9.
    PRIDEi Q495M9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000319642 ; ENSP00000320076 ; ENSG00000182040 .
    GeneIDi 124590.
    KEGGi hsa:124590.
    UCSCi uc002jme.1. human.

    Organism-specific databases

    CTDi 124590.
    GeneCardsi GC17M072912.
    GeneReviewsi USH1G.
    HGNCi HGNC:16356. USH1G.
    HPAi HPA024360.
    MIMi 276900. phenotype.
    606943. phenotype.
    607696. gene.
    neXtProti NX_Q495M9.
    Orphaneti 231169. Usher syndrome type 1.
    PharmGKBi PA38126.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOGENOMi HOG000007847.
    HOVERGENi HBG051882.
    InParanoidi Q495M9.
    OMAi MKGHMEC.
    OrthoDBi EOG70GMFR.
    PhylomeDBi Q495M9.
    TreeFami TF324946.

    Enzyme and pathway databases

    SignaLinki Q495M9.

    Miscellaneous databases

    EvolutionaryTracei Q495M9.
    GeneWikii USH1G.
    GenomeRNAii 124590.
    NextBioi 81331.
    PROi Q495M9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q495M9.
    Bgeei Q495M9.
    CleanExi HS_USH1G.
    Genevestigatori Q495M9.

    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. "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].
      Tissue: Tongue.
    2. "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].
    3. "Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment."
      Schneider E., Marker T., Daser A., Frey-Mahn G., Beyer V., Farcas R., Schneider-Ratzke B., Kohlschmidt N., Grossmann B., Bauss K., Napiontek U., Keilmann A., Bartsch O., Zechner U., Wolfrum U., Haaf T.
      Hum. Mol. Genet. 18:655-666(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PDZD7.
    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, SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH MYO7A; USH1C AND USH1G.
    5. "The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins."
      Yan J., Pan L., Chen X., Wu L., Zhang M.
      Proc. Natl. Acad. Sci. U.S.A. 107:4040-4045(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 388-461 IN COMPLEX WITH USH1C, INTERACTION WITH USH1C, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT USH1G VAL-458.
    6. "Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo."
      Wu L., Pan L., Wei Z., Zhang M.
      Science 331:757-760(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 295-390 IN COMPLEX WITH MYO7A, STRUCTURE BY NMR OF 370-380, INTERACTION WITH MYO7A, MUTAGENESIS OF PHE-307; PHE-317 AND TRP-374.
    7. "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: VARIANT USH1G PRO-48, INTERACTION WITH USH1C, TISSUE SPECIFICITY, POSSIBLE FUNCTION.
    8. Cited for: VARIANT USH1G VAL-458.

    Entry informationi

    Entry nameiUSH1G_HUMAN
    AccessioniPrimary (citable) accession number: Q495M9
    Secondary accession number(s): Q8N251
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: September 13, 2005
    Last modified: October 1, 2014
    This is version 95 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3