USH2A
USH2A (англ. Usherin) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 1-ї хромосоми. [4] Довжина поліпептидного ланцюга білка становить 5 202 амінокислот, а молекулярна маса — 575 600[5].
Послідовність амінокислот
| 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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.
- UniProt, O75445 (англ.). Процитовано 28 серпня 2017.
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