Usherin ili ušerin jest protein koji je kod ljudi kodiran genom USH2A''' sa hromosoma 1.
Aminokiselinska sekvenca Dužina polipeptidnog lanca je 5 202 aminokiseline, a molekulska težina 575.600 Da.
1020304050 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
Funkcija Ovaj gen kodira protein usherin koji sadrži lamininske EGF-motive, pentraksinskogh domena i mnoge fibronektinske tip III motive. Kodirani protein povezan sa baznom membranom može biti važan u razvoju i homeostazi unutrašnjeg uha i retine. Mutacije unutar ovog gena su povezane sa Usherovim sindromom tipa IIa. Opisane su alternativno prerađene varijante transkripta koje kodiraju različite izoforme.
Reference
Dopunska literatura
Vanjski linkovi GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II
Kategorija:Geni na hromosomu 1 Kategorija:Ljudski proteini Kategorija:Proteomika