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Q9ES64

- USH1C_MOUSE

UniProt

Q9ES64 - USH1C_MOUSE

Protein

Harmonin

Gene

Ush1c

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      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. myosin tail binding Source: MGI
    2. protein binding Source: IntAct
    3. spectrin binding Source: MGI

    GO - Biological processi

    1. actin filament bundle assembly Source: MGI
    2. auditory receptor cell differentiation Source: MGI
    3. inner ear morphogenesis Source: MGI
    4. neuromuscular process controlling balance Source: MGI
    5. parallel actin filament bundle assembly Source: MGI
    6. sensory perception of sound Source: MGI

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Harmonin
    Alternative name(s):
    PDZ domain-containing protein
    Usher syndrome type-1C protein homolog
    Gene namesi
    Name:Ush1c
    OrganismiMus musculus (Mouse)Imported
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:1919338. Ush1c.

    Subcellular locationi

    Cytoplasmcytosol By similarity. Cytoplasmcytoskeleton 1 Publication
    Note: Detected at the tip of cochlear hair cell stereocilia. Colocalizes with F-actin.

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. cytosol Source: UniProtKB-SubCell
    3. photoreceptor inner segment Source: MGI
    4. photoreceptor outer segment Source: MGI
    5. plasma membrane Source: MGI
    6. stereocilium Source: MGI
    7. synapse Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 910910HarmoninPRO_0000065728Add
    BLAST

    Proteomic databases

    MaxQBiQ9ES64.
    PaxDbiQ9ES64.
    PRIDEiQ9ES64.

    PTM databases

    PhosphoSiteiQ9ES64.

    Expressioni

    Tissue specificityi

    Detected in stereocilia of cochlear hair cells (at protein level). Isoform 1 is expressed in the eye, cochlea, vestibule, heart, kidney, small intestine and testis; it is barely visible in skeletal muscle, liver, and lung and is absent from the brain. Isoforms 2 and 3 are expressed in the cochlea and vestibule.2 Publications

    Gene expression databases

    ArrayExpressiQ9ES64.
    BgeeiQ9ES64.
    CleanExiMM_USH1C.
    GenevestigatoriQ9ES64.

    Interactioni

    Subunit structurei

    Interacts with HARP. Interacts with USH1G/SANS, USH2A and SLC4A7. Part of a complex composed of USH1C, USH1G and MYO7A. Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ domain) with CDH23. Interacts with F-actin.5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Cdh23Q99PF42EBI-7418919,EBI-7419021
    Pcdh15Q99PJ13EBI-7418968,EBI-6556746
    Ush1gQ80T113EBI-7418919,EBI-7418889

    Protein-protein interaction databases

    BioGridi215143. 5 interactions.
    IntActiQ9ES64. 5 interactions.
    MINTiMINT-1895746.

    Structurei

    Secondary structure

    1
    910
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi745 – 7484
    Beta strandi753 – 7608
    Beta strandi767 – 7715
    Beta strandi774 – 7763
    Beta strandi778 – 7836
    Helixi789 – 7935
    Beta strandi801 – 8077
    Helixi815 – 82814
    Beta strandi831 – 8388

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1V6BNMR-A742-849[»]
    ProteinModelPortaliQ9ES64.
    SMRiQ9ES64. Positions 1-299, 741-850.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9ES64.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini87 – 17185PDZ 1CuratedPROSITE-ProRule annotationAdd
    BLAST
    Domaini211 – 29585PDZ 2CuratedPROSITE-ProRule annotationAdd
    BLAST
    Domaini752 – 83988PDZ 3CuratedPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 8686N-terminal domainAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili299 – 37779Sequence AnalysisAdd
    BLAST
    Coiled coili417 – 48266Sequence AnalysisAdd
    BLAST

    Domaini

    The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.
    The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2 C-terminus, despite very low sequence similarity.By similarity

    Sequence similaritiesi

    Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG255885.
    GeneTreeiENSGT00530000063178.
    HOGENOMiHOG000126890.
    HOVERGENiHBG057181.
    InParanoidiQ9ES64.
    OrthoDBiEOG75MVW2.
    PhylomeDBiQ9ES64.

    Family and domain databases

    Gene3Di2.30.42.10. 3 hits.
    InterProiIPR001478. PDZ.
    [Graphical view]
    PfamiPF00595. PDZ. 3 hits.
    [Graphical view]
    SMARTiSM00228. PDZ. 3 hits.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 3 hits.
    PROSITEiPS50106. PDZ. 3 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms exist.1 Publication

    Isoform 3Curated (identifier: Q9ES64-1) [UniParc]FASTAAdd to Basket

    Also known as: b31 Publication

    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

    MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI    50
    NEPNRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL 100
    SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV 150
    INLIRTKKTV SIKVRHIGLI PVKSSPEESL KWQYVDQFVS ESGGVRGGLG 200
    SPGNRTTKEK KVFISLVGSR GLGCSISSGP IQKPGIFVSH VKPGSLSAEV 250
    GLETGDQIVE VNGIDFTNLD HKEAVNVLKS SRSLTISIVA GAGRELFMTD 300
    RERLEEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA 350
    EENERYRKEM EQISEEEEKF KKQWEEDWGS KEQLILPKTI TAEVHPVPLR 400
    KPKSFGWFYR YDGKFPTIRK KAKEKKKAKY DSLQDLRKNK KELEFEQKLY 450
    KEKEEMLEKE KQLKINRLAQ EVSETEREDL EESEKTQYWV ERLCQTRLEQ 500
    ISSAENEIPE MTTGPPPPPP SVSPLAPPLR RFAGGIHLHT TDLDDIPLDM 550
    FYYPPKTPSA LPVMPHPPSV NSPSKVPAPP VLPSSGHVSS SSSPWVQRTP 600
    PPIPIPPPPS IPTQDLTPTR PLPSALEEAL GNHPFRTGDP GHPADDWEAN 650
    THSGKPSSSP TTERSFPPAP KTFCPSPQPP RGPGVSTISK PVMVHQEHNF 700
    VYRPAVKSEV LPQEMLKRMV VYQTAFRQDF RKYEEGFDPY SMFSPEQIAG 750
    KDVRLLRIKK EGSLDLALEG GVDSPVGKVV VSAVYEGGAA ERHGGVVKGD 800
    EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELS 850
    SLPSSAAESP QLARKQLEAY EPVCRHGFFL QLEPTNLLLK SRERNQTDPS 900
    WRPASSAPSP 910
    Length:910
    Mass (Da):102,285
    Last modified:March 1, 2001 - v1
    Checksum:i427B97953BA5D941
    GO
    Isoform 2Curated (identifier: Q9ES64-2) [UniParc]FASTAAdd to Basket

    Also known as: b2Curated

    The sequence of this isoform differs from the canonical sequence as follows:
         850-859: SSLPSSAAES → RKPPAGPKAA
         860-910: Missing.

    Show »
    Length:859
    Mass (Da):96,498
    Checksum:i80041ACF7FE5F3D2
    GO
    Isoform 1Curated (identifier: Q9ES64-3) [UniParc]FASTAAdd to Basket

    Also known as: a11 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         404-423: SFGWFYRYDGKFPTIRKKAK → YDQGVEPADHLDGSTEEQRQ
         424-727: Missing.
         850-852: SSL → TFF

    Show »
    Length:606
    Mass (Da):68,185
    Checksum:i59A90F640A915A36
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti375 – 3751E → K in AAH10819. (PubMed:15489334)Curated
    Sequence conflicti740 – 7401Y → H in BAB25568. (PubMed:16141072)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei404 – 42320SFGWF…RKKAK → YDQGVEPADHLDGSTEEQRQ in isoform 1. 3 PublicationsVSP_050530Add
    BLAST
    Alternative sequencei424 – 727304Missing in isoform 1. 3 PublicationsVSP_050531Add
    BLAST
    Alternative sequencei850 – 85910SSLPSSAAES → RKPPAGPKAA in isoform 2. 1 PublicationVSP_050532
    Alternative sequencei850 – 8523SSL → TFF in isoform 1. 3 PublicationsVSP_050533
    Alternative sequencei860 – 91051Missing in isoform 2. 1 PublicationVSP_050534Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF228925 mRNA. Translation: AAG12458.1.
    AF228924 mRNA. Translation: AAG12457.1.
    AY103465 mRNA. Translation: AAM44072.1.
    BC010819 mRNA. Translation: AAH10819.1.
    AK008274 mRNA. Translation: BAB25568.2.
    CCDSiCCDS21276.1. [Q9ES64-1]
    RefSeqiNP_001157205.1. NM_001163733.1.
    NP_076138.2. NM_023649.2.
    NP_710143.2. NM_153677.2.
    UniGeneiMm.119709.

    Genome annotation databases

    EnsembliENSMUST00000078680; ENSMUSP00000077747; ENSMUSG00000030838.
    GeneIDi72088.
    KEGGimmu:72088.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF228925 mRNA. Translation: AAG12458.1 .
    AF228924 mRNA. Translation: AAG12457.1 .
    AY103465 mRNA. Translation: AAM44072.1 .
    BC010819 mRNA. Translation: AAH10819.1 .
    AK008274 mRNA. Translation: BAB25568.2 .
    CCDSi CCDS21276.1. [Q9ES64-1 ]
    RefSeqi NP_001157205.1. NM_001163733.1.
    NP_076138.2. NM_023649.2.
    NP_710143.2. NM_153677.2.
    UniGenei Mm.119709.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1V6B NMR - A 742-849 [» ]
    ProteinModelPortali Q9ES64.
    SMRi Q9ES64. Positions 1-299, 741-850.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 215143. 5 interactions.
    IntActi Q9ES64. 5 interactions.
    MINTi MINT-1895746.

    PTM databases

    PhosphoSitei Q9ES64.

    Proteomic databases

    MaxQBi Q9ES64.
    PaxDbi Q9ES64.
    PRIDEi Q9ES64.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000078680 ; ENSMUSP00000077747 ; ENSMUSG00000030838 .
    GeneIDi 72088.
    KEGGi mmu:72088.

    Organism-specific databases

    CTDi 10083.
    MGIi MGI:1919338. Ush1c.

    Phylogenomic databases

    eggNOGi NOG255885.
    GeneTreei ENSGT00530000063178.
    HOGENOMi HOG000126890.
    HOVERGENi HBG057181.
    InParanoidi Q9ES64.
    OrthoDBi EOG75MVW2.
    PhylomeDBi Q9ES64.

    Miscellaneous databases

    EvolutionaryTracei Q9ES64.
    NextBioi 335406.
    PROi Q9ES64.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9ES64.
    Bgeei Q9ES64.
    CleanExi MM_USH1C.
    Genevestigatori Q9ES64.

    Family and domain databases

    Gene3Di 2.30.42.10. 3 hits.
    InterProi IPR001478. PDZ.
    [Graphical view ]
    Pfami PF00595. PDZ. 3 hits.
    [Graphical view ]
    SMARTi SM00228. PDZ. 3 hits.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 3 hits.
    PROSITEi PS50106. PDZ. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C."
      Verpy E., Leibovici M., Zwaenepoel I., Liu X.-Z., Gal A., Salem N., Mansour A., Blanchard S., Kobayashi I., Keats B.J.B., Slim R., Petit C.
      Nat. Genet. 26:51-55(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
      Tissue: Inner ear1 Publication.
    2. Verpy E., Leibovici M., Zwaenepoel I., Blanchard S., Petit C.
      Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "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 1).
      Tissue: Colon1 Publication.
    4. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 740-852 (ISOFORM 1).
      Strain: C57BL/6J.
      Tissue: Small intestine.
    5. "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 HARP.
    6. "Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues."
      Johnston A.M., Naselli G., Niwa H., Brodnicki T., Harrison L.C., Gonez L.J.
      Genes Cells 9:967-982(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HARP.
    7. "Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2."
      Reiners J., van Wijk E., Maerker T., Zimmermann U., Juergens K., te Brinke H., Overlack N., Roepman R., Knipper M., Kremer H., Wolfrum U.
      Hum. Mol. Genet. 14:3933-3943(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC4A7.
    8. "Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells."
      Adato A., Lefevre G., Delprat B., Michel V., Michalski N., Chardenoux S., Weil D., El-Amraoui A., Petit C.
      Hum. Mol. Genet. 14:3921-3932(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USH2A.
    9. Cited for: FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH CDH23 AND WITH F-ACTIN, SUBCELLULAR LOCATION.
    10. "Solution structure of the third PDZ domain of mouse harmonin."
      RIKEN structural genomics initiative (RSGI)
      Submitted (MAY-2004) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 742-849.

    Entry informationi

    Entry nameiUSH1C_MOUSE
    AccessioniPrimary (citable) accession number: Q9ES64
    Secondary accession number(s): Q91XD1, Q9CVG7, Q9ES65
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2003
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 115 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

    3D-structure, Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3