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USH2A (англ. Usherin) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 1-ї хромосоми. Довжина поліпептидного ланцюга білка становить 5 202 амінокислот, а молекулярна маса — 575 600.
| USH2A | |||||||||||||||||
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| Ідентифікатори | |||||||||||||||||
| Символи | USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin | ||||||||||||||||
| Зовнішні ІД | OMIM: 608400 MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| Usher syndrome type 2A, retinitis pigmentosa 39 | |||||||||||||||||
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| Шаблон експресії | |||||||||||||||||
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| Більше даних | |||||||||||||||||
| Ортологи | |||||||||||||||||
| Види | Людина | Миша | |||||||||||||||
| Entrez |
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| UniProt |
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| RefSeq (мРНК) |
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 1: 215.62 – 216.42 Mb | Хр. 1: 187.99 – 188.7 Mb | |||||||||||||||
| PubMed search | |||||||||||||||||
| Вікідані | |||||||||||||||||
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| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MNCPVLSLGS | GFLFQVIEML | IFAYFASISL | TESRGLFPRL | ENVGAFKKVS | ||||
| IVPTQAVCGL | PDRSTFCHSS | AAAESIQFCT | QRFCIQDCPY | RSSHPTYTAL | ||||
| FSAGLSSCIT | PDKNDLHPNA | HSNSASFIFG | NHKSCFSSPP | SPKLMASFTL | ||||
| AVWLKPEQQG | VMCVIEKTVD | GQIVFKLTIS | EKETMFYYRT | VNGLQPPIKV | ||||
| MTLGRILVKK | WIHLSVQVHQ | TKISFFINGV | EKDHTPFNAR | TLSGSITDFA | ||||
| SGTVQIGQSL | NGLEQFVGRM | QDFRLYQVAL | TNREILEVFS | GDLLRLHAQS | ||||
| HCRCPGSHPR | VHPLAQRYCI | PNDAGDTADN | RVSRLNPEAH | PLSFVNDNDV | ||||
| GTSWVSNVFT | NITQLNQGVT | ISVDLENGQY | QVFYIIIQFF | SPQPTEIRIQ | ||||
| RKKENSLDWE | DWQYFARNCG | AFGMKNNGDL | EKPDSVNCLQ | LSNFTPYSRG | ||||
| NVTFSILTPG | PNYRPGYNNF | YNTPSLQEFV | KATQIRFHFH | GQYYTTETAV | ||||
| NLRHRYYAVD | EITISGRCQC | HGHADNCDTT | SQPYRCLCSQ | ESFTEGLHCD | ||||
| RCLPLYNDKP | FRQGDQVYAF | NCKPCQCNSH | SKSCHYNISV | DPFPFEHFRG | ||||
| GGGVCDDCEH | NTTGRNCELC | KDYFFRQVGA | DPSAIDVCKP | CDCDTVGTRN | ||||
| GSILCDQIGG | QCNCKRHVSG | RQCNQCQNGF | YNLQELDPDG | CSPCNCNTSG | ||||
| TVDGDITCHQ | NSGQCKCKAN | VIGLRCDHCN | FGFKFLRSFN | DVGCEPCQCN | ||||
| LHGSVNKFCN | PHSGQCECKK | EAKGLQCDTC | RENFYGLDVT | NCKACDCDTA | ||||
| GSLPGTVCNA | KTGQCICKPN | VEGRQCNKCL | EGNFYLRQNN | SFLCLPCNCD | ||||
| KTGTINGSLL | CNKSTGQCPC | KLGVTGLRCN | QCEPHRYNLT | IDNFQHCQMC | ||||
| ECDSLGTLPG | TICDPISGQC | LCVPNRQGRR | CNQCQPGFYI | SPGNATGCLP | ||||
| CSCHTTGAVN | HICNSLTGQC | VCQDASIAGQ | RCDQCKDHYF | GFDPQTGRCQ | ||||
| PCNCHLSGAL | NETCHLVTGQ | CFCKQFVTGS | KCDACVPSAS | HLDVNNLLGC | ||||
| SKTPFQQPPP | RGQVQSSSAI | NLSWSPPDSP | NAHWLTYSLL | RDGFEIYTTE | ||||
| DQYPYSIQYF | LDTDLLPYTK | YSYYIETTNV | HGSTRSVAVT | YKTKPGVPEG | ||||
| NLTLSYIIPI | GSDSVTLTWT | TLSNQSGPIE | KYILSCAPLA | GGQPCVSYEG | ||||
| HETSATIWNL | VPFAKYDFSV | QACTSGGCLH | SLPITVTTAQ | APPQRLSPPK | ||||
| MQKISSTELH | VEWSPPAELN | GIIIRYELYM | RRLRSTKETT | SEESRVFQSS | ||||
| GWLSPHSFVE | SANENALKPP | QTMTTITGLE | PYTKYEFRVL | AVNMAGSVSS | ||||
| AWVSERTGES | APVFMIPPSV | FPLSSYSLNI | SWEKPADNVT | RGKVVGYDIN | ||||
| MLSEQSPQQS | IPMAFSQLLH | TAKSQELSYT | VEGLKPYRIY | EFTITLCNSV | ||||
| GCVTSASGAG | QTLAAAPAQL | RPPLVKGINS | TTIHLRWFPP | EELNGPSPIY | ||||
| QLERRESSLP | ALMTTMMKGI | RFIGNGYCKF | PSSTHPVNTD | FTGIKASFRT | ||||
| KVPEGLIVFA | ASPGNQEEYF | ALQLKKGRLY | FLFDPQGSPV | EVTTTNDHGK | ||||
| QYSDGKWHEI | IAIRHQAFGQ | ITLDGIYTGS | SAILNGSTVI | GDNTGVFLGG | ||||
| LPRSYTILRK | DPEIIQKGFV | GCLKDVHFMK | NYNPSAIWEP | LDWQSSEEQI | ||||
| NVYNSWEGCP | ASLNEGAQFL | GAGFLELHPY | MFHGGMNFEI | SFKFRTDQLN | ||||
| GLLLFVYNKD | GPDFLAMELK | SGILTFRLNT | SLAFTQVDLL | LGLSYCNGKW | ||||
| NKVIIKKEGS | FISASVNGLM | KHASESGDQP | LVVNSPVYVG | GIPQELLNSY | ||||
| QHLCLEQGFG | GCMKDVKFTR | GAVVNLASVS | SGAVRVNLDG | CLSTDSAVNC | ||||
| RGNDSILVYQ | GKEQSVYEGG | LQPFTEYLYR | VIASHEGGSV | YSDWSRGRTT | ||||
| GAAPQSVPTP | SRVRSLNGYS | IEVTWDEPVV | RGVIEKYILK | AYSEDSTRPP | ||||
| RMPSASAEFV | NTSNLTGILT | GLLPFKNYAV | TLTACTLAGC | TESSHALNIS | ||||
| TPQEAPQEVQ | PPVAKSLPSS | LLLSWNPPKK | ANGIITQYCL | YMDGRLIYSG | ||||
| SEENYIVTDL | AVFTPHQFLL | SACTHVGCTN | SSWVLLYTAQ | LPPEHVDSPV | ||||
| LTVLDSRTIH | IQWKQPRKIS | GILERYVLYM | SNHTHDFTIW | SVIYNSTELF | ||||
| QDHMLQYVLP | GNKYLIKLGA | CTGGGCTVSE | ASEALTDEDI | PEGVPAPKAH | ||||
| SYSPDSFNVS | WTEPEYPNGV | ITSYGLYLDG | ILIHNSSELS | YRAYGFAPWS | ||||
| LHSFRVQACT | AKGCALGPLV | ENRTLEAPPE | GTVNVFVKTQ | GSRKAHVRWE | ||||
| APFRPNGLLT | HSVLFTGIFY | VDPVGNNYTL | LNVTKVMYSG | EETNLWVLID | ||||
| GLVPFTNYTV | QVNISNSQGS | LITDPITIAM | PPGAPDGVLP | PRLSSATPTS | ||||
| LQVVWSTPAR | NNAPGSPRYQ | LQMRSGDSTH | GFLELFSNPS | ASLSYEVSDL | ||||
| QPYTEYMFRL | VASNGFGSAH | SSWIPFMTAE | DKPGPVVPPI | LLDVKSRMML | ||||
| VTWQHPRKSN | GVITHYNIYL | HGRLYLRTPG | NVTNCTVMHL | HPYTAYKFQV | ||||
| EACTSKGCSL | SPESQTVWTL | PGAPEGIPSP | ELFSDTPTSV | IISWQPPTHP | ||||
| NGLVENFTIE | RRVKGKEEVT | TLVTLPRSHS | MRFIDKTSAL | SPWTKYEYRV | ||||
| LMSTLHGGTN | SSAWVEVTTR | PSRPAGVQPP | VVTVLEPDAV | QVTWKPPLIQ | ||||
| NGDILSYEIH | MPDPHITLTN | VTSAVLSQKV | THLIPFTNYS | VTIVACSGGN | ||||
| GYLGGCTESL | PTYVTTHPTV | PQNVGPLSVI | PLSESYVVIS | WQPPSKPNGP | ||||
| NLRYELLRRK | IQQPLASNPP | EDLNRWHNIY | SGTQWLYEDK | GLSRFTTYEY | ||||
| MLFVHNSVGF | TPSREVTVTT | LAGLPERGAN | LTASVLNHTA | IDVRWAKPTV | ||||
| QDLQGEVEYY | TLFWSSATSN | DSLKILPDVN | SHVIGHLKPN | TEYWIFISVF | ||||
| NGVHSINSAG | LHATTCDGEP | QGMLPPEVVI | INSTAVRVIW | TSPSNPNGVV | ||||
| TEYSIYVNNK | LYKTGMNVPG | SFILRDLSPF | TIYDIQVEVC | TIYACVKSNG | ||||
| TQITTVEDTP | SDIPTPTIRG | ITSRSLQIDW | VSPRKPNGII | LGYDLLWKTW | ||||
| YPCAKTQKLV | QDQSDELCKA | VRCQKPESIC | GHICYSSEAK | VCCNGVLYNP | ||||
| KPGHRCCEEK | YIPFVLNSTG | VCCGGRIQEA | QPNHQCCSGY | YARILPGEVC | ||||
| CPDEQHNRVS | VGIGDSCCGR | MPYSTSGNQI | CCAGRLHDGH | GQKCCGRQIV | ||||
| SNDLECCGGE | EGVVYNRLPG | MFCCGQDYVN | MSDTICCSAS | SGESKAHIKK | ||||
| NDPVPVKCCE | TELIPKSQKC | CNGVGYNPLK | YVCSDKISTG | MMMKETKECR | ||||
| ILCPASMEAT | EHCGRCDFNF | TSHICTVIRG | SHNSTGKASI | EEMCSSAEET | ||||
| IHTGSVNTYS | YTDVNLKPYM | TYEYRISAWN | SYGRGLSKAV | RARTKEDVPQ | ||||
| GVSPPTWTKI | DNLEDTIVLN | WRKPIQSNGP | IIYYILLRNG | IERFRGTSLS | ||||
| FSDKEGIQPF | QEYSYQLKAC | TVAGCATSSK | VVAATTQGVP | ESILPPSITA | ||||
| LSAVALHLSW | SVPEKSNGVI | KEYQIRQVGK | GLIHTDTTDR | RQHTVTGLQP | ||||
| YTNYSFTLTA | CTSAGCTSSE | PFLGQTLQAA | PEGVWVTPRH | IIINSTTVEL | ||||
| YWSLPEKPNG | LVSQYQLSRN | GNLLFLGGSE | EQNFTDKNLE | PNSRYTYKLE | ||||
| VKTGGGSSAS | DDYIVQTPMS | TPEEIYPPYN | ITVIGPYSIF | VAWIPPGILI | ||||
| PEIPVEYNVL | LNDGSVTPLA | FSVGHHQSTL | LENLTPFTQY | EIRIQACQNG | ||||
| SCGVSSRMFV | KTPEAAPMDL | NSPVLKALGS | ACIEIKWMPP | EKPNGIIINY | ||||
| FIYRRPAGIE | EESVLFVWSE | GALEFMDEGD | TLRPFTLYEY | RVRACNSKGS | ||||
| VESLWSLTQT | LEAPPQDFPA | PWAQATSAHS | VLLNWTKPES | PNGIISHYRV | ||||
| VYQERPDDPT | FNSPTVHAFT | VKGTSHQAHL | YGLEPFTTYR | IGVVAANHAG | ||||
| EILSPWTLIQ | TLESSPSGLR | NFIVEQKENG | RALLLQWSEP | MRTNGVIKTY | ||||
| NIFSDGFLEY | SGLNRQFLFR | RLDPFTLYTL | TLEACTRAGC | AHSAPQPLWT | ||||
| DEAPPDSQLA | PTVHSVKSTS | VELSWSEPVN | PNGKIIRYEV | IRRCFEGKAW | ||||
| GNQTIQADEK | IVFTEYNTER | NTFMYNDTGL | QPWTQCEYKI | YTWNSAGHTC | ||||
| SSWNVVRTLQ | APPEGLSPPV | ISYVSMNPQK | LLISWIPPEQ | SNGIIQSYRL | ||||
| QRNEMLYPFS | FDPVTFNYTD | EELLPFSTYS | YALQACTSGG | CSTSKPTSIT | ||||
| TLEAAPSEVS | PPDLWAVSAT | QMNVCWSPPT | VQNGKITKYL | VRYDNKESLA | ||||
| GQGLCLLVSH | LQPYSQYNFS | LVACTNGGCT | ASVSKSAWTM | EALPENMDSP | ||||
| TLQVTGSESI | EITWKPPRNP | NGQIRSYELR | RDGTIVYTGL | ETRYRDFTLT | ||||
| PGVEYSYTVT | ASNSQGGILS | PLVKDRTSPS | APSGMEPPKL | QARGPQEILV | ||||
| NWDPPVRTNG | DIINYTLFIR | ELFERETKII | HINTTHNSFG | MQSYIVNQLK | ||||
| PFHRYEIRIQ | ACTTLGCASS | DWTFIQTPEI | APLMQPPPHL | EVQMAPGGFQ | ||||
| PTVSLLWTGP | LQPNGKVLYY | ELYRRQIATQ | PRKSNPVLIY | NGSSTSFIDS | ||||
| ELLPFTEYEY | QVWAVNSAGK | APSSWTWCRT | GPAPPEGLRA | PTFHVISSTQ | ||||
| AVVNISAPGK | PNGIVSLYRL | FSSSAHGAET | VLSEGMATQQ | TLHGLQAFTN | ||||
| YSIGVEACTC | FNCCSKGPTA | ELRTHPAPPS | GLSSPQIGTL | ASRTASFRWS | ||||
| PPMFPNGVIH | SYELQFHVAC | PPDSALPCTP | SQIETKYTGL | GQKASLGGLQ | ||||
| PYTTYKLRVV | AHNEVGSTAS | EWISFTTQKE | LPQYRAPFSV | DSNLSVVCVN | ||||
| WSDTFLLNGQ | LKEYVLTDGG | RRVYSGLDTT | LYIPRTADKT | FFFQVICTTD | ||||
| EGSVKTPLIQ | YDTSTGLGLV | LTTPGKKKGS | RSKSTEFYSE | LWFIVLMAML | ||||
| GLILLAIFLS | LILQRKIHKE | PYIRERPPLV | PLQKRMSPLN | VYPPGENHMG | ||||
| LADTKIPRSG | TPVSIRSNRS | ACVLRIPSQN | QTSLTYSQGS | LHRSVSQLMD | ||||
| IQDKKVLMDN | SLWEAIMGHN | SGLYVDEEDL | MNAIKDFSSV | TKERTTFTDT | ||||
| HL |
Задіяний у такому біологічному процесі як поліморфізм. Локалізований у клітинній мембрані, мембрані, клітинних відростках. Також секретований назовні.
Література
- Bhattacharya G., Miller C., Kimberling W.J., Jablonski M.M., Cosgrove D. (2002). Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear. Res. 163: 1—11. PMID 11788194 DOI:10.1016/S0378-5955(01)00344-6
- Bhattacharya G., Kalluri R., Orten D.J., Kimberling W.J., Cosgrove D. (2004). A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J. Cell Sci. 117: 233—242. PMID 14676276 DOI:10.1242/jcs.00850
- Bhattacharya G., Cosgrove D. (2005). Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes. Biochemistry. 44: 11518—11524. PMID 16114888 DOI:10.1021/bi050245u
- Ahmed Z.M., Riazuddin S., Riazuddin S., Wilcox E.R. (2003). The molecular genetics of Usher syndrome. Clin. Genet. 63: 431—444. PMID 12786748 DOI:10.1034/j.1399-0004.2003.00109.x
- Rivolta C., Sweklo E.A., Berson E.L., Dryja T.P. (2000). Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66: 1975—1978. PMID 10775529 DOI:10.1086/302926
- Adato A., Weston M.D., Berry A., Kimberling W.J., Bonne-Tamir A. (2000). Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum. Mutat. 15: 388—388. PMID 10738000 DOI:10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N
Примітки
- Захворювання, генетично пов'язані з USH2A переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:12601 (англ.) . Процитовано 28 серпня 2017.
- (англ.) . Архів оригіналу за 8 серпня 2017. Процитовано 28 серпня 2017.
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USH2A angl Usherin bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 1 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 5 202 aminokislot a molekulyarna masa 575 600 USH2AIdentifikatoriSimvoliUSH2A RP39 US2 USH2 dJ1111A8 1 Usher syndrome 2A autosomal recessive mild usherinZovnishni ID OMIM 608400 MGI 1341292 HomoloGene 66151 GeneCards USH2APov yazani genetichni zahvoryuvannyaUsher syndrome type 2A retinitis pigmentosa 39 Ontologiya genaMolekulyarna funkciya protein homodimerization activity collagen binding myosin binding GO 0001948 GO 0016582 protein bindingKlitinna komponenta citoplazma stereocilium bundle integral component of membrane ciliary basal body cell projection stereocilium membrane membrana photoreceptor inner segment stereocilia ankle link complex klitinna membrana photoreceptor connecting cilium stereocilia ankle link extracellular region bazalna membrana USH2 complex apical plasma membrane periciliary membrane compartment neuronal cell body terminal bouton stereocilium sinapsBiologichnij proces vidpovid na stimul establishment of protein localization hair cell differentiation sensory perception of light stimulus sluh inner ear receptor cell differentiation photoreceptor cell maintenance maintenance of animal organ identity zir retina development in camera type eye animal organ morphogenesis gistogenez NejrogenezDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez7399 22283Ensembl ENSG00000042781 ENSMUSG00000026609UniProt O75445 Q2QI47RefSeq mRNK NM 206933 NM 007123NM 021408RefSeq bilok NP 009054 NP 996816NP 067383Lokus UCSC Hr 1 215 62 216 42 MbHr 1 187 99 188 7 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MNCPVLSLGSGFLFQVIEMLIFAYFASISLTESRGLFPRLENVGAFKKVS IVPTQAVCGLPDRSTFCHSSAAAESIQFCTQRFCIQDCPYRSSHPTYTAL FSAGLSSCITPDKNDLHPNAHSNSASFIFGNHKSCFSSPPSPKLMASFTL AVWLKPEQQGVMCVIEKTVDGQIVFKLTISEKETMFYYRTVNGLQPPIKV MTLGRILVKKWIHLSVQVHQTKISFFINGVEKDHTPFNARTLSGSITDFA SGTVQIGQSLNGLEQFVGRMQDFRLYQVALTNREILEVFSGDLLRLHAQS HCRCPGSHPRVHPLAQRYCIPNDAGDTADNRVSRLNPEAHPLSFVNDNDV GTSWVSNVFTNITQLNQGVTISVDLENGQYQVFYIIIQFFSPQPTEIRIQ RKKENSLDWEDWQYFARNCGAFGMKNNGDLEKPDSVNCLQLSNFTPYSRG NVTFSILTPGPNYRPGYNNFYNTPSLQEFVKATQIRFHFHGQYYTTETAV NLRHRYYAVDEITISGRCQCHGHADNCDTTSQPYRCLCSQESFTEGLHCD RCLPLYNDKPFRQGDQVYAFNCKPCQCNSHSKSCHYNISVDPFPFEHFRG GGGVCDDCEHNTTGRNCELCKDYFFRQVGADPSAIDVCKPCDCDTVGTRN GSILCDQIGGQCNCKRHVSGRQCNQCQNGFYNLQELDPDGCSPCNCNTSG TVDGDITCHQNSGQCKCKANVIGLRCDHCNFGFKFLRSFNDVGCEPCQCN LHGSVNKFCNPHSGQCECKKEAKGLQCDTCRENFYGLDVTNCKACDCDTA GSLPGTVCNAKTGQCICKPNVEGRQCNKCLEGNFYLRQNNSFLCLPCNCD KTGTINGSLLCNKSTGQCPCKLGVTGLRCNQCEPHRYNLTIDNFQHCQMC ECDSLGTLPGTICDPISGQCLCVPNRQGRRCNQCQPGFYISPGNATGCLP CSCHTTGAVNHICNSLTGQCVCQDASIAGQRCDQCKDHYFGFDPQTGRCQ PCNCHLSGALNETCHLVTGQCFCKQFVTGSKCDACVPSASHLDVNNLLGC SKTPFQQPPPRGQVQSSSAINLSWSPPDSPNAHWLTYSLLRDGFEIYTTE DQYPYSIQYFLDTDLLPYTKYSYYIETTNVHGSTRSVAVTYKTKPGVPEG NLTLSYIIPIGSDSVTLTWTTLSNQSGPIEKYILSCAPLAGGQPCVSYEG HETSATIWNLVPFAKYDFSVQACTSGGCLHSLPITVTTAQAPPQRLSPPK MQKISSTELHVEWSPPAELNGIIIRYELYMRRLRSTKETTSEESRVFQSS GWLSPHSFVESANENALKPPQTMTTITGLEPYTKYEFRVLAVNMAGSVSS AWVSERTGESAPVFMIPPSVFPLSSYSLNISWEKPADNVTRGKVVGYDIN MLSEQSPQQSIPMAFSQLLHTAKSQELSYTVEGLKPYRIYEFTITLCNSV GCVTSASGAGQTLAAAPAQLRPPLVKGINSTTIHLRWFPPEELNGPSPIY QLERRESSLPALMTTMMKGIRFIGNGYCKFPSSTHPVNTDFTGIKASFRT KVPEGLIVFAASPGNQEEYFALQLKKGRLYFLFDPQGSPVEVTTTNDHGK QYSDGKWHEIIAIRHQAFGQITLDGIYTGSSAILNGSTVIGDNTGVFLGG LPRSYTILRKDPEIIQKGFVGCLKDVHFMKNYNPSAIWEPLDWQSSEEQI NVYNSWEGCPASLNEGAQFLGAGFLELHPYMFHGGMNFEISFKFRTDQLN GLLLFVYNKDGPDFLAMELKSGILTFRLNTSLAFTQVDLLLGLSYCNGKW NKVIIKKEGSFISASVNGLMKHASESGDQPLVVNSPVYVGGIPQELLNSY QHLCLEQGFGGCMKDVKFTRGAVVNLASVSSGAVRVNLDGCLSTDSAVNC RGNDSILVYQGKEQSVYEGGLQPFTEYLYRVIASHEGGSVYSDWSRGRTT GAAPQSVPTPSRVRSLNGYSIEVTWDEPVVRGVIEKYILKAYSEDSTRPP RMPSASAEFVNTSNLTGILTGLLPFKNYAVTLTACTLAGCTESSHALNIS TPQEAPQEVQPPVAKSLPSSLLLSWNPPKKANGIITQYCLYMDGRLIYSG SEENYIVTDLAVFTPHQFLLSACTHVGCTNSSWVLLYTAQLPPEHVDSPV LTVLDSRTIHIQWKQPRKISGILERYVLYMSNHTHDFTIWSVIYNSTELF QDHMLQYVLPGNKYLIKLGACTGGGCTVSEASEALTDEDIPEGVPAPKAH SYSPDSFNVSWTEPEYPNGVITSYGLYLDGILIHNSSELSYRAYGFAPWS LHSFRVQACTAKGCALGPLVENRTLEAPPEGTVNVFVKTQGSRKAHVRWE APFRPNGLLTHSVLFTGIFYVDPVGNNYTLLNVTKVMYSGEETNLWVLID GLVPFTNYTVQVNISNSQGSLITDPITIAMPPGAPDGVLPPRLSSATPTS LQVVWSTPARNNAPGSPRYQLQMRSGDSTHGFLELFSNPSASLSYEVSDL QPYTEYMFRLVASNGFGSAHSSWIPFMTAEDKPGPVVPPILLDVKSRMML VTWQHPRKSNGVITHYNIYLHGRLYLRTPGNVTNCTVMHLHPYTAYKFQV EACTSKGCSLSPESQTVWTLPGAPEGIPSPELFSDTPTSVIISWQPPTHP NGLVENFTIERRVKGKEEVTTLVTLPRSHSMRFIDKTSALSPWTKYEYRV LMSTLHGGTNSSAWVEVTTRPSRPAGVQPPVVTVLEPDAVQVTWKPPLIQ NGDILSYEIHMPDPHITLTNVTSAVLSQKVTHLIPFTNYSVTIVACSGGN GYLGGCTESLPTYVTTHPTVPQNVGPLSVIPLSESYVVISWQPPSKPNGP NLRYELLRRKIQQPLASNPPEDLNRWHNIYSGTQWLYEDKGLSRFTTYEY MLFVHNSVGFTPSREVTVTTLAGLPERGANLTASVLNHTAIDVRWAKPTV QDLQGEVEYYTLFWSSATSNDSLKILPDVNSHVIGHLKPNTEYWIFISVF NGVHSINSAGLHATTCDGEPQGMLPPEVVIINSTAVRVIWTSPSNPNGVV TEYSIYVNNKLYKTGMNVPGSFILRDLSPFTIYDIQVEVCTIYACVKSNG TQITTVEDTPSDIPTPTIRGITSRSLQIDWVSPRKPNGIILGYDLLWKTW YPCAKTQKLVQDQSDELCKAVRCQKPESICGHICYSSEAKVCCNGVLYNP KPGHRCCEEKYIPFVLNSTGVCCGGRIQEAQPNHQCCSGYYARILPGEVC CPDEQHNRVSVGIGDSCCGRMPYSTSGNQICCAGRLHDGHGQKCCGRQIV SNDLECCGGEEGVVYNRLPGMFCCGQDYVNMSDTICCSASSGESKAHIKK NDPVPVKCCETELIPKSQKCCNGVGYNPLKYVCSDKISTGMMMKETKECR ILCPASMEATEHCGRCDFNFTSHICTVIRGSHNSTGKASIEEMCSSAEET IHTGSVNTYSYTDVNLKPYMTYEYRISAWNSYGRGLSKAVRARTKEDVPQ GVSPPTWTKIDNLEDTIVLNWRKPIQSNGPIIYYILLRNGIERFRGTSLS FSDKEGIQPFQEYSYQLKACTVAGCATSSKVVAATTQGVPESILPPSITA LSAVALHLSWSVPEKSNGVIKEYQIRQVGKGLIHTDTTDRRQHTVTGLQP YTNYSFTLTACTSAGCTSSEPFLGQTLQAAPEGVWVTPRHIIINSTTVEL YWSLPEKPNGLVSQYQLSRNGNLLFLGGSEEQNFTDKNLEPNSRYTYKLE VKTGGGSSASDDYIVQTPMSTPEEIYPPYNITVIGPYSIFVAWIPPGILI PEIPVEYNVLLNDGSVTPLAFSVGHHQSTLLENLTPFTQYEIRIQACQNG SCGVSSRMFVKTPEAAPMDLNSPVLKALGSACIEIKWMPPEKPNGIIINY FIYRRPAGIEEESVLFVWSEGALEFMDEGDTLRPFTLYEYRVRACNSKGS VESLWSLTQTLEAPPQDFPAPWAQATSAHSVLLNWTKPESPNGIISHYRV VYQERPDDPTFNSPTVHAFTVKGTSHQAHLYGLEPFTTYRIGVVAANHAG EILSPWTLIQTLESSPSGLRNFIVEQKENGRALLLQWSEPMRTNGVIKTY NIFSDGFLEYSGLNRQFLFRRLDPFTLYTLTLEACTRAGCAHSAPQPLWT DEAPPDSQLAPTVHSVKSTSVELSWSEPVNPNGKIIRYEVIRRCFEGKAW GNQTIQADEKIVFTEYNTERNTFMYNDTGLQPWTQCEYKIYTWNSAGHTC SSWNVVRTLQAPPEGLSPPVISYVSMNPQKLLISWIPPEQSNGIIQSYRL QRNEMLYPFSFDPVTFNYTDEELLPFSTYSYALQACTSGGCSTSKPTSIT TLEAAPSEVSPPDLWAVSATQMNVCWSPPTVQNGKITKYLVRYDNKESLA GQGLCLLVSHLQPYSQYNFSLVACTNGGCTASVSKSAWTMEALPENMDSP TLQVTGSESIEITWKPPRNPNGQIRSYELRRDGTIVYTGLETRYRDFTLT PGVEYSYTVTASNSQGGILSPLVKDRTSPSAPSGMEPPKLQARGPQEILV NWDPPVRTNGDIINYTLFIRELFERETKIIHINTTHNSFGMQSYIVNQLK PFHRYEIRIQACTTLGCASSDWTFIQTPEIAPLMQPPPHLEVQMAPGGFQ PTVSLLWTGPLQPNGKVLYYELYRRQIATQPRKSNPVLIYNGSSTSFIDS ELLPFTEYEYQVWAVNSAGKAPSSWTWCRTGPAPPEGLRAPTFHVISSTQ AVVNISAPGKPNGIVSLYRLFSSSAHGAETVLSEGMATQQTLHGLQAFTN YSIGVEACTCFNCCSKGPTAELRTHPAPPSGLSSPQIGTLASRTASFRWS PPMFPNGVIHSYELQFHVACPPDSALPCTPSQIETKYTGLGQKASLGGLQ PYTTYKLRVVAHNEVGSTASEWISFTTQKELPQYRAPFSVDSNLSVVCVN WSDTFLLNGQLKEYVLTDGGRRVYSGLDTTLYIPRTADKTFFFQVICTTD EGSVKTPLIQYDTSTGLGLVLTTPGKKKGSRSKSTEFYSELWFIVLMAML GLILLAIFLSLILQRKIHKEPYIRERPPLVPLQKRMSPLNVYPPGENHMG LADTKIPRSGTPVSIRSNRSACVLRIPSQNQTSLTYSQGSLHRSVSQLMD IQDKKVLMDNSLWEAIMGHNSGLYVDEEDLMNAIKDFSSVTKERTTFTDT HL A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Zadiyanij u takomu biologichnomu procesi yak polimorfizm Lokalizovanij u klitinnij membrani membrani klitinnih vidrostkah Takozh sekretovanij nazovni LiteraturaBhattacharya G Miller C Kimberling W J Jablonski M M Cosgrove D 2002 Localization and expression of usherin a novel basement membrane protein defective in people with Usher s syndrome type IIa Hear Res 163 1 11 PMID 11788194 DOI 10 1016 S0378 5955 01 00344 6 Bhattacharya G Kalluri R Orten D J Kimberling W J Cosgrove D 2004 A domain specific usherin collagen IV interaction may be required for stable integration into the basement membrane superstructure J Cell Sci 117 233 242 PMID 14676276 DOI 10 1242 jcs 00850 Bhattacharya G Cosgrove D 2005 Evidence for functional importance of usherin fibronectin interactions in retinal basement membranes Biochemistry 44 11518 11524 PMID 16114888 DOI 10 1021 bi050245u Ahmed Z M Riazuddin S Riazuddin S Wilcox E R 2003 The molecular genetics of Usher syndrome Clin Genet 63 431 444 PMID 12786748 DOI 10 1034 j 1399 0004 2003 00109 x Rivolta C Sweklo E A Berson E L Dryja T P 2000 Missense mutation in the USH2A gene association with recessive retinitis pigmentosa without hearing loss Am J Hum Genet 66 1975 1978 PMID 10775529 DOI 10 1086 302926 Adato A Weston M D Berry A Kimberling W J Bonne Tamir A 2000 Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families Hum Mutat 15 388 388 PMID 10738000 DOI 10 1002 SICI 1098 1004 200004 15 4 lt 388 AID HUMU27 gt 3 0 CO 2 NPrimitkiZahvoryuvannya genetichno pov yazani z USH2A pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 12601 angl Procitovano 28 serpnya 2017 angl Arhiv originalu za 8 serpnya 2017 Procitovano 28 serpnya 2017 Div takozhHromosoma 1 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi