Usherin ili ušerin jest protein koji je kod ljudi kodiran genom USH2A sa hromosoma 1.[5][6]

USH2A
Identifikatori
AliasiUSH2A
Vanjski ID-jeviOMIM: 608400 MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A
Lokacija gena (čovjek)
Hromosom 1 (čovjek)
Hrom.Hromosom 1 (čovjek)[1]
Hromosom 1 (čovjek)
Genomska lokacija za USH2A
Genomska lokacija za USH2A
Bend1q41Početak215,622,891 bp[1]
Kraj216,423,448 bp[1]
Lokacija gena (miš)
Hromosom 1 (miš)
Hrom.Hromosom 1 (miš)[2]
Hromosom 1 (miš)
Genomska lokacija za USH2A
Genomska lokacija za USH2A
Bend1 H6|1 92.29 cMPočetak187,994,220 bp[2]
Kraj188,697,238 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija protein homodimerization activity
collagen binding
myosin binding
GO:0001948, GO:0016582 protein binding
Ćelijska komponenta citoplazma
stereocilium bundle
integral component of membrane
ciliary basal body
projekcija ćelije
stereocilium membrane
membrana
photoreceptor inner segment
stereocilia ankle link complex
Ćelijska membrana
photoreceptor connecting cilium
stereocilia ankle link
extracellular region
basement membrane
USH2 complex
apical plasma membrane
periciliary membrane compartment
neuronal cell body
terminal bouton
stereocilium
sinapsa
Biološki proces response to stimulus
establishment of protein localization
hair cell differentiation
sensory perception of light stimulus
sensory perception of sound
inner ear receptor cell differentiation
photoreceptor cell maintenance
maintenance of animal organ identity
Vid
retina development in camera-type eye
animal organ morphogenesis
tissue development
neurogenesis
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_206933
NM_007123

NM_021408

RefSeq (bjelančevina)

NP_009054
NP_996816

NP_067383

Lokacija (UCSC)Chr 1: 215.62 – 216.42 MbChr 1: 187.99 – 188.7 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 5 202 aminokiseline, a molekulska težina 575.600 Da.[7]

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 uredi

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.[8]

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000042781 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026609 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (Jul 1998). "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa". Science. 280 (5370): 1753–7. Bibcode:1998Sci...280.1753E. doi:10.1126/science.280.5370.1753. PMID 9624053.
  6. ^ Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ (maj 2000). "Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa". Am J Hum Genet. 66 (4): 1199–210. doi:10.1086/302855. PMC 1288187. PMID 10729113.
  7. ^ "UniProt, O75445" (jezik: en.). Pristupljeno 10. 12. 2021.CS1 održavanje: nepoznati jezik (link)
  8. ^ "Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)".

Dopunska literatura uredi

Vanjski linkovi uredi