Protein: Usherin (Usher syndrome type IIa protein homolog) (Usher syndrome type-2A protein homolog) (Q2QI47)
Organism: Mus musculus (Mouse)
Function: Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
Subcellular location: Cell projection, stereocilium membrane {ECO:0000269|PubMed:17567809, ECO:0000269|PubMed:20502675, ECO:0000269|PubMed:24334608}; Single-pass type I membrane protein. Photoreceptor inner segment {ECO:0000269|PubMed:20502675, ECO:0000269|PubMed:24334608}. Note=Component of the interstereocilia ankle links in the inner ear sensory cells (PubMed:20502675, PubMed:24334608). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex (PubMed:20502675, PubMed:24334608). {ECO:0000269|PubMed:20502675, ECO:0000269|PubMed:24334608}.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted.
Interaction partners:
- Adhesion G-protein coupled receptor V1
- Whirlin
- PDZ domain-containing protein 7
- Vezatin
- Harmonin
- Cadherin-23
- Unconventional myosin-VIIa
- Protocadherin-15
- pre-mRNA splicing regulator USH1G
- Clarin-1
Sequence:
MHYLALSPGFLCYTIKTLILAYLASVLVLAASQGVFPRLENVGAFRKVSTVPTHATCGFPGPSTFCRSPVAAEHVQLCTERLCIQDCPYRSASPLYTALLEGLRSCIPADDGDLHPYSRSSSVSFMFGSHQNCPSLRAPRLAAELTLAVWLKLEQGGTMCVIEKTVDGQIVFKVTISEKETMFYYRTVNGLQPPIKVMTPGRILMKKWIHLTVQVHQTAISFFVDGLEENSTAFDTRTLHDSVTDSVSSVIQVGQSLNGSEQFVGRMQDFRLYNVSLTNREILEVFSGDFPHLHIQPHCRCPGSHPRVHPSVQQYCIPNGAGDTPEHRMSRLNPEAHPLSFINDDDVATSWISHVFTNITQLYEGVAISIDLENGQYQVLKVITQFSSLQPVAIRIQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCLQLPDFIPFSHGNVTFDLLTSGQKHRPGYNDFYNSSVLQEFMRATQIRLHFHGQYYPAGHTVDWRHQYYAVDEIIVSGRCQCHGHAETCDRTRRPYRCLCSPHSFTEGPQCDRCSPLYNDKPFRSGDNVNAFNCKPCQCHGHASSCHYDASVDPFPLEHNRGGGGVCDDCQHHTTGRHCESCQDYFYRPVGADPAAPDACKLCDCNRAGTRNGSLHCDPIGGQCDCKRRVSGRQCLQCQDGFYDLQALDPDGCRPCNCNPSGTVDGDITCHQNSGQCSCKANVIGLRCNRCNFGFKFLQSFNGDGCEPCQCNLHGSVNQLCDPLSGQCACKKEAKGLKCDSCRENFYGLPWSACEVCDCSKAGSQPGTVCDTETGQCVCKPNVGGRQCSQCKAGYFNLYQNDSHLCLTCNCEKMGTVNGSLRCDKSTGQCPCKLGVTGLRCHQCKPHRFNLTMDNPQGCQACDCDSLGTLPGSMCDPISGQCLCLPHRQGRRCEQCQPGFYSSPSNATGCLPCLCHTAGAVSHICNSVTGQCSCHDPSTTGRSCHQCQESYFRFDPLTGRCRPCHCHVAGASNGTCDAVTGQCFCKEFVTGSKCDTCVPGASHLDVNNLLGCSKTPSQQPPPRGWVQSSSTINVSWSPPECPNAHWLTYTLFRNGSEIYTTEDEHPYYTQYFLDTSLSPHTAYSYYIETSNVHSSTRSIPVIYETKPEVSEGHLNLTHIIPVGSDSITLTWTGLSNSSDPVAKYVLSCTPVDSTEPCVSYEGPETSATIWNLVPFTQYCFSVQGCTNESCFYSLPIIVTTAQAPPQTQGPPTVWKISPTELRIEWSPPVDSNGIIISYELYMRRWLSTEESLVFESHGLVSSHSALQSVNPSKNLLQQPQASTFISGLEPHTEYAFRVLAVNMAGRVSSAWASERTGESVPVFMAPPSVSPLSPHSLSVSWEKPAENFTRGEIIGYKISMVSEHFPLHDVPVMCSKMVHFAKSQDQSYIVRGLEPYRTYSFTVSLCDSVGCVTSALGSGQTLAAAPAQLRPPMVTGVNSTTVHIRWLPPAGVNGPPPLYHLERKKSSLPAATAAVTKGTRFVGHGYCRFPRTAHADFIGIKASFRTRVPEGLILLALSPGDQEEYFTLQLKNGRPYFLYNSQGTLVEVTPTDDPSQGYRDGEWHEIIAVRHQAFGQITLDGQYTGSSSSLNGSSVTGGYTGLFVGGVPQGHSVLQKRLEIIQRGFVGCLKDVFIMKGYSPSGTWLPLDWQSSEEQVNVHPSWEGCPTNLEEGVQFLGAGFLELPSDTFHAAKDFEISLKFQTDQLNGLLLFIHNTEGPDFLAVELKRGLLSFKFNSSLVFTRVDLRLGLADCDGKWNTVSIKKEGSVVSVRVNALKKSTSQAGGQPLLVNSPVYLGGIPRELQDAYRHLTLEPGFRGCVKEVAFARGVVVNLASVSSRAVRVNQDGCLSSDSTVNCGGNDSILVYRGSQQSVYESGLQPFTEYLYRVTASHEGGAVSSDWSRGRTLGTAPQSVPTPSRAQSINGSSVEVAWNEPAVVKGVLEKYVLKAYSEDSSQPRVPSASTELHDTSTHSGVLIGLHPFHSYTVTLTACSRAGCTESSQALSISTPQEAPQEVQAPVAVALPNSLSFFWSLPRQANGIITQYSLYVDGRLVYTGKGQNYTVTDLRVFAAYEIIVGACTQAGCTNSSQVILHTAQLPPEQVDPPGLTVLDSRTIHVRWKQPRQLNGILERYILYILNPIHNSTMWSVVYNSTEKLQAHVLHHLSPGGLYLIRLRVCTGGGCTTSEPSQALMEETIPEGVPAPRAHSYSPDSFNISWTEPEYPNGVITTYELYLDDTLIHNSSGLSCHAYGFDPGSLHTFQVQACTAKGCALGPLVGNRTLEAPPEGVVNVLVKPEGSREAHVRWDAPAHPNGRLTYSVHFTGSFYADQAGDNYTLLSGTKTIRGIEGSRLWVLVDGLVPCSHYMVQVNASNSRGSVLSDPVSVEMPPGAPDGLLSPRLAAAAPTSLQVVWSTPARNNAPGSPRYQLQMRPGPSTHGRLELFPIPSASLSYEVTGLQPFTVYEFRLVATNGFGTAYSAWTPLMTTEDKPGPIDAPILINVKARMLSVIWRQPAKCNGAITHYNIYLHGRLYLTVSGRVTNYTVVPLHPYKAYHFQVEACTSQGCSKSPSSETVWTLPGNPEGIPSPQLFPYTPTSIIVTWQPSAHLDLLVENVTIERRVKGKKEVRNLVTLARSQAMKFIDNDPALRPWTRYEYRVLGSTLDGGTNSSAWVEVTTRPCRPSGVQPPTVRVLAPDTVEVSWKAPLMQNGDILSYEIRMPEPLIKMTNMSSIMLSHLVKHLIPFTNYSVTIVACSGGNGYLAGCTESPPTLATTHPAPPQELAPLSVILLSESDVGISWQPPSKPNGPNLRYELLRCKIQQPLASNPPEDLNLWHNIYSGTRWFYKDKGLSRFTTYEYKLFVHNSVGFTPSREVTVTTLAGSPERGATVTASILNHTAIDVRWKKPTFQDLQGDVEYYTLFWSSGTSEESLKIFPDVDFHVIGQLSPNVEYQVFLLVFNGVHAINSTVVHVTMWEEEPQGMLPPEVVIINSTAVRVIWTSPSNPNAVVTESSVYVNNKLYKTGTDAPGSFVLEDLSPFTIYDIQVEVCTKDACVKSNGTQVSTAEDTPSDISIPVIRGITSRSLQIDWTTPANPNGIILGYDVLRKTWRPCSETQKLTDKPRDELCKAVKCQYPGKVCGHTCYSPGTKVCCDGLLYDPQPGYSCCEDKYIALSPNATGVCCGGRMWEAQPDHQCCSGHYARILPGEICCPDERHNRVSVGFGDACCGTMPYATSGSQVCCAGRLQDGYRQQCCGGEMVSQDFQCCGGGEEGMVYSYLPGMLCCGQDYVNMSETICCSASSGESKAHVRKDDPTPVKCCGTELSPESQRCCDGVGYNPLKYVCSDEISAGMAMKETRVCATICPATMKATAHCGRCDFNATTHICTVMRGPLNPTGKKAVEGLCSAAEEIVHSGDVNTHSFIDRDLKPSTVYEYRISAWNSYGRGFSQSVRASTREDVPEGVKAPRWARTGKHEDVIFLQWEEPMQSNGPIIHYILFRDGRERFQGTALSFTDTQGIQPLQEYSYQLKACTAAGCAVSCKVVAATTQRSPENVPPPNITAQSSETLHLSWSVPEKMKDAIKAYQLWLDGKGLIYTDTSDRRQHTVTGLQPYTNYSFTLAVCTSVGCTSSEPCVGQTLQAAPQGVWVTPRHIIINSTTVELYWNPPERPNGLISQYQLRRNGSLLLVGGRDNQSFTDSNLEPGSRYIYKLEARTGGGSSWSEDYLVQMPLWTPEDIHPPCNVTVLGSDSIFVAWPTPGNLLPKIPVEYSILLSGGSVTLLVFSVRHRQSAHLKNLSPFTQYEIRIQACQNGGCGVSPGTYVRTLEAAPVGLMPPLLKALGSSCIEVKWMPPTRPNGIITSYVVHRRPADTEEESLLFVWSEGALEFTDDTGTLRPFTLYEYRVRAWNSQGAVDSPWSTIQTLEAPPRGLPAPRVQATSAHSAMLNWTEPEAPNGLISQYHVIYQERPDAAAPGSSTVHAFTVTGTSRQAHLFGLEPFTTYHIGVVAVNSAGKVSSPWTLIKTLESAPSGLMNFTVEQREKGRALLLQWSEPVKTNGVIKAYNIFNDGVLEYSGLGRQFLFRRLAPFTLYTLILEACTTAGCAHSVPQPLWTEEAPPDTQMAPTIQSVGPTNVRLHWSQPASPNGKIIHYEVIRRRSEEEDWGNTTWQADGNTVFTEYNTQGNAWVYNDTGLQPWRQYAYRICAWNSAGHTCSSWNVVRTLQAPPDGLSPPEISYVSMSPLQLLISWLPPRHSNGVIQGYRLQRDGVLPALNFNASTFSYMDSQLLPFSTYSYAILACTGGGCCTSEPTNITTPEVPPSEVSPPVLWDISAHQMNVSWSPPSIPNGKIVKYLLQCDGEEHLAGQGLSFLLSNLQPSTQYNISLVACTSGGCTASRTTSAWTKEAPPENMDPPTLHITGPESIEITWTPPRNPHGLIRSYELRRDGAIVYVGLETRYHDFTLAPGVEYSYSVTATNSRGSVLSPLVKGQTSPSAPSGLQPPKLHSGDALELLADWDPPVRTNGKIINYTLFVREMFEGKTRAMSINTTHSSFGTRSLTVKHLKPFHRYEVRVQACTALGCTSSEWTSTQTSEVPPLRQPAPHLEVQTATGGFQPIVAVWWAGPLQPNGKIICFELYRRQVAAWPGTSSSLLIYNGSFRSFMDSELLPFTEYEYQVWAVNSAGKAASNWTRCRTGPAPPEGLQAPTFHTVSSTRAVVNISVPSRPNGNISLFRVFSNSSGTHVTLSEGTATQQTLHDLSPFTTYTIGVEACTCFNCCSRGPTAELRTHPAPPSGLSPPQVQTLGSRMASVHWTPPLLPNGVIHSYELQLQRACPPDSAPRCPPSHTERKYWGPGHRASLAGLQPNTAYGVQVVAYNEAGSTASGWTNFSTKKEMPQYQALFSVDSNASMVWVDWSGTFLLNGHLKEYVVTDGGRRVYSGLDTTLYIPRMVDKIFFFQVTCTTDIGSVKTPLVQYDAATGSGLVLTTPGEKKGAGTKSTEFYSELWFIMVMAVVGLILLAIFLSLILQRKIHKEPCIRERPPLVPLQKRMTPLSVYPPGETHVGLADTRLPRSGTPMSIRSSQSVSVLRIPSQSQLSHAYSQSSLHRSVSQLMDMADKKVVTEDSLWETIMGHSSGLYVDEEELMNAIKGFSSVTKEHTAFTDTHL