ID A0A3B3X6F7_9TELE Unreviewed; 4797 AA.
AC A0A3B3X6F7;
DT 05-DEC-2018, integrated into UniProtKB/TrEMBL.
DT 05-DEC-2018, sequence version 1.
DT 27-MAR-2024, entry version 23.
DE RecName: Full=Usher syndrome 2A (autosomal recessive, mild) {ECO:0008006|Google:ProtNLM};
OS Poecilia mexicana.
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata;
OC Ovalentaria; Atherinomorphae; Cyprinodontiformes; Poeciliidae; Poeciliinae;
OC Poecilia.
OX NCBI_TaxID=48701 {ECO:0000313|Ensembl:ENSPMEP00000010529.1, ECO:0000313|Proteomes:UP000261480};
RN [1] {ECO:0000313|Ensembl:ENSPMEP00000010529.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (SEP-2023) to UniProtKB.
CC -!- CAUTION: Lacks conserved residue(s) required for the propagation of
CC feature annotation. {ECO:0000256|PROSITE-ProRule:PRU00460}.
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DR STRING; 48701.ENSPMEP00000010529; -.
DR Ensembl; ENSPMET00000017411.1; ENSPMEP00000010529.1; ENSPMEG00000012690.1.
DR Proteomes; UP000261480; Unplaced.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-KW.
DR GO; GO:0048856; P:anatomical structure development; IEA:UniProt.
DR CDD; cd00055; EGF_Lam; 8.
DR CDD; cd00063; FN3; 27.
DR CDD; cd00110; LamG; 2.
DR Gene3D; 2.60.120.200; -; 2.
DR Gene3D; 2.60.120.260; Galactose-binding domain-like; 1.
DR Gene3D; 2.60.40.10; Immunoglobulins; 27.
DR Gene3D; 2.10.25.10; Laminin; 7.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR001791; Laminin_G.
DR InterPro; IPR008211; Laminin_N.
DR InterPro; IPR002049; LE_dom.
DR PANTHER; PTHR46957; CYTOKINE RECEPTOR; 1.
DR PANTHER; PTHR46957:SF4; USHERIN; 1.
DR Pfam; PF00041; fn3; 12.
DR Pfam; PF00053; Laminin_EGF; 8.
DR Pfam; PF02210; Laminin_G_2; 2.
DR PRINTS; PR00011; EGFLAMININ.
DR SMART; SM00180; EGF_Lam; 8.
DR SMART; SM00060; FN3; 31.
DR SMART; SM00282; LamG; 2.
DR SMART; SM00136; LamNT; 1.
DR SUPFAM; SSF49899; Concanavalin A-like lectins/glucanases; 3.
DR SUPFAM; SSF57196; EGF/Laminin; 6.
DR SUPFAM; SSF49265; Fibronectin type III; 19.
DR PROSITE; PS01248; EGF_LAM_1; 2.
DR PROSITE; PS50027; EGF_LAM_2; 5.
DR PROSITE; PS50853; FN3; 26.
DR PROSITE; PS50025; LAM_G_DOMAIN; 2.
DR PROSITE; PS51117; LAMININ_NTER; 1.
PE 4: Predicted;
KW Cell projection {ECO:0000256|ARBA:ARBA00023273};
KW Disulfide bond {ECO:0000256|ARBA:ARBA00023157, ECO:0000256|PROSITE-
KW ProRule:PRU00460};
KW Laminin EGF-like domain {ECO:0000256|ARBA:ARBA00023292,
KW ECO:0000256|PROSITE-ProRule:PRU00460}; Membrane {ECO:0000256|SAM:Phobius};
KW Transmembrane {ECO:0000256|SAM:Phobius};
KW Transmembrane helix {ECO:0000256|SAM:Phobius}.
FT TRANSMEM 4647..4669
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 214..469
FT /note="Laminin N-terminal"
FT /evidence="ECO:0000259|PROSITE:PS51117"
FT DOMAIN 594..643
FT /note="Laminin EGF-like"
FT /evidence="ECO:0000259|PROSITE:PS50027"
FT DOMAIN 644..695
FT /note="Laminin EGF-like"
FT /evidence="ECO:0000259|PROSITE:PS50027"
FT DOMAIN 696..742
FT /note="Laminin EGF-like"
FT /evidence="ECO:0000259|PROSITE:PS50027"
FT DOMAIN 833..883
FT /note="Laminin EGF-like"
FT /evidence="ECO:0000259|PROSITE:PS50027"
FT DOMAIN 884..934
FT /note="Laminin EGF-like"
FT /evidence="ECO:0000259|PROSITE:PS50027"
FT DOMAIN 936..1031
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 1033..1125
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 1126..1236
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 1306..1497
FT /note="Laminin G"
FT /evidence="ECO:0000259|PROSITE:PS50025"
FT DOMAIN 1502..1671
FT /note="Laminin G"
FT /evidence="ECO:0000259|PROSITE:PS50025"
FT DOMAIN 1815..1908
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 1909..2002
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2040..2139
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2140..2234
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2238..2336
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2340..2433
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2434..2550
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2552..2643
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 2647..2737
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3103..3190
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3191..3284
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3381..3469
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3473..3567
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3568..3671
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3672..3760
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3761..3867
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3868..3960
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 3961..4045
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 4046..4133
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 4134..4233
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 4238..4338
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 4339..4433
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DOMAIN 4435..4541
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000259|PROSITE:PS50853"
FT DISULFID 616..625
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 666..675
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 718..727
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 833..845
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 835..852
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 867..881
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 884..896
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 886..903
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
FT DISULFID 905..914
FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00460"
SQ SEQUENCE 4797 AA; 524285 MW; DAF043078A90CE6E CRC64;
MQRGGEAWVG HYILLSLYVQ KISLTHFLLL LQGHFPRMEN IAAFKPVSTS PPRSTCGVPE
QSSYCQSPSS RDELHLCFQA MCVQECPYRS STPPYAPLLL AAHSVLFQPS EDGCLVTPPS
QAVGPRGSLT LAVWLKPSST GEMMLLEKSS DNRLVFSLTV SERAVALRYG RTDGLTSHTV
SFRTEGRLQL NRWTHLTLQV RNLSGSNQFI GQMQDFRFYP ATLTNREIVQ LHSGVLPKLH
VQSECRCPPS HPRVHPLVER YCIPNAVEDT TNDRVLRLNL NAHPLSYVND QDMGTMWLSK
VMSLQELDEG VTITVDLANG QYQVFYVIVQ FGGLLPESVL IQRRKLDLLQ REIDNMTEQS
WLDWQYMARN CNVFNMQNNG PLPRPDSVNC LQLPSDVPLV GGNITFSLLT TQPHLRPGYN
DFYKTPALQE VVQAAQVRIH MKGQYYTAAV GVNQRHRHFA ISEITISGSR CECHGHADQC
DTSVTPYRCL CLPESHTVGS NCEHCAPLYN DKPFRSGDQL QPMNCRLCQC YGHAVSCHYD
ALADEHPDEH YRGGGGVCDH CMHNTSGKNC ERCVGGFFRL QDSDPTSARV CQPCDCDVAG
TVEGDTECPS GGQCECKPGV GGQRCDSCGR GLYGLRLEGS CAPCNCSRDG TVPGSNCDPH
TGQCVCKEHV EGHHCDSCRH GYHTLEQRNS LGCLPCVCDS HGTVPEGVCD RRTGQCPCKE
GVEGAHCTSC VQNYYNRSLD LESKKMILSD LYHSKCFSSF FVFYQGGFWL VFTKGLSQGC
VPCICDPRGT VTGSTCDSAT GQCVCIPSRH GKDCSSCRPG FYLAPDHGVC LECDCHPMGA
MQLSCESQNG QCVCAHRSVG GRRCDQCREM FFGFNPGLGR CQPCACDPEG SVNSSCDPDT
GVCVCKLLVT GDKCDSCQPG ASHFDPENPF GCSKSPSQQP APIGSVLSYS SIHLSWHPPD
SPNSHRLNYT LMRDGQSLHT IQSHFPFSLE SFVDAGLFPF TNYSYWLITA NIAGETISAS
ASYQTLGAPP SGEELHLNLL GRPGPTSASF NWSIPRNDTG PVERFVLSSV ESSDKAEPVI
HYTGLSTEAV ASDLKAFIQY SVTLEACSSG GCTSSPPLYF LTATAPPQNQ SAPNITATGP
HTLHASWVPP SQPNGILPCL SVLTLVFSSS GWLDPSVLPE QNPTKTTTLS PPESSTIIEG
LQAFSAYQLR VVSINSAGNV TSEWTTAHTL EGAPEFVAPP DVSALSSSTL SVTSSMKNIR
YDVEGLKPYH TYNFTVTLCT RMGCITSLPS TGRTLPAVPT GLSSPRLHPV NETTIQIDWD
PPGQLNGPSP LYQLSFKTWS PNGLLLSAFS PGHQEEFLAI QIKNGRPYFL FDPQGSAVAV
GVHGDGNRRY NDGQWHNIVA TRQRAVGTIT INHQYSGSAS ASSGNSIIGE NMGLFIGGLP
EDFFVFPGDT RLVRRGFSGC LRDISVKMSV SPAEEWEILD WKKATRKVGV YESWEGCPLQ
TVKGVHFLGD GYLELDTGVF SGGHNFDISM DFRTDQLSAL LLFAYGTQTE DYMLVELEAG
LLSFILASGG RATELRMWVG LSYCDGDWKQ LSLAKRGSLI SAAVGDWAEE MWEVGEPARL
RVSSPLYLGG VPVELSHPGL NGQSHKHEIC RTNINLSVAY RRSVRVNLDG CPTTESRFNC
RGNDSVLVYT GRQTQATDYG LLPFTGNNVH FSFTCMLKIP TSVPPPAAVE SISGFSAKVR
WLPPTGDVRG LIDRYELKAY NKDHPEVPPI TATYLANGNF TGLGVYSTNF LVLSACTKVG
CTNSSQVTAL TSELPPGPLR APSLTLLDSR SILVEWSRPS QIDGVLKFYS VLLSSDGSEP
ILAYNSSDLA EEHTLRSLTP GTFYSVTVAC TGGGCTRSPP SHVQTEESTP EDVPAPLVIP
LSPHSLNISW TPPETPNGVI TSYGLWMDGV LVFNSSSSQK FFIVEGLSPW SRHVVRLQAC
TAQGCGKGPL VESHTLEMAP EGPVLLELAN QSSRSLRARW TAPPRANGNL RYSLYYKSKA
PDGLSPVTLV SATNTSLNVS WSAPVNSNAP GPLLYSLHMR ASPQSSIIRL LENATDTHSY
YVECLSPFTN YLFRVVVSHI HGETAGPWAT LRTAEDRPGP VDSPAIMGLQ SRSALITWDP
PAQTNGVITN YTLYLYSADA SRSTPLSVTV PGNTTSYTFL NLHPYQMFSL QVKACTSAGC
SVSGASQYFQ TLPAPSEGVP APHLYSDTPT SVLLSWGAPE RSNGPLERWE IERRVAGTKQ
VSTVGRLLPV SPPLSFLDSS SALSPWTAYQ YRLVLHNQLH ICVHAGPWVS VKTRPSRPAG
LSPPGVKVLG SESLQVTWSP PLIPNGEIHG YEIRLPEPRI FHNTSNPLEF NVTVTDLVPY
TNYSISVLAC SNGGGYVGGC TESLPTPAST LPTTPEDLAP LSVVPVSESF LAISWQPPSR
PNGPNIRYKL LRRKTHQPLA VAMVPTLAAT SPPPSEDLHR WFRVYSGTKL FYEDKGLSRF
TRYQYQLVVY NDVGYSSGNI VTAVTMAGVP LKPPTLSARA INHTAVQVNW NKPSLQDLQG
EVESFFLTVT SSETGPVMAY GPDVTSTVIG DLWPSTTYLV SLQVFNGAHN TTKSVVYVTT
ADGEPEGMSA PEVVPVNSST ARVLWFPPHR PNGAVTGYGV YVNGRLHGSV DNSSGSYLLG
DLLPFTVYNI QVEVCTVYAC TRSSITRTTT VEDLPADLPR PHAQVIMVRL DWAHPGRPSG
IMLGYEVLRR TLRSCTDRST GVTPCRFFYI EKSSKINFPP LYMHSCVKQI CCNGFLHTRK
PHHHCCDELY AGWDDSSHPV CCNGKLVPSQ PNHQCCGRYY VPVKTNEYCC PDHLQGRVSV
GPGDSCCGGV PYSMTGGQLC CSGRLHDGYG VQCCGGKIVD DVLVCCDDAV HAYKPGFICC
GKEYINSSTS LCCVDDDGYP TIHPSGNATV KLQCCGSKVI HLDEKCCNGI GFDPQRHVCA
DQATPGLLMP VCFELKLVCP VAAAATSYCG SCDLDPSLTA CTWVLTAHTH PDTQSIYFPL
CCILDTDLEP FTTYEYRVRG WNSFGPGSTD VTTVTTSEDK PWGLAPPRWS RLGERNDIVQ
LQWQAPARPN GIITHYIVLR DGQERYRGDE NTFTDVGGIG PFQEFVYQLR ACNQAGCTDS
TKVVAVTAQG VPEDVKPPAV KAISSSSLHV SWSVPSRPKG VIQRYQLNQT GVGTIFTHTG
GLRNYTVTGL QPYTDYSFVL VACTTVGCAA SEPSTGRTLQ ASPSGVWSSP RHLIINTSAV
ELYWDPPSQP NGHVFRYRLI RDGLLSYSFY SNLLPSSPNS SLSNFLFRYL YELEASTAGG
TGLSDKYATQ TPASCPTGIP PPYNLTVSGP HSLSLTWAPP AQLNSSQPVF YNVLLNPGSR
GAMSRHAGQN LHLTVTDLEP FTTYYIRVQA CQNEGCGVGD GVYIHTLEEI PEGLQPPTVK
ALGPSILEIH WTPPEKPNGL ITSYHIYRRP LGTEEELLVF IWSTGPLEFV DASPALQPFS
FFQYKVRAHN SKGSEASQWA LAQTLQAKPQ ELAPPVVRPT GAYSVHLKWR EPDQPNGLIS
HYRLVYMKHQ QDPTLNSTSV TALTVKGSVL EAAVFGLDPF SQYSLRVEAV NGAGSVSSPW
VEVQTLEASP TGLGNFTVEQ REEGRALLLS WDEPLAPNGV ITMYNLYSEE NLEFSGLSRS
FLFRRLEPWT VYSLTLEACT AAGCTLSPPQ HITTAAAPPA SQLPPRPLSV GADQVSLTWD
PPSQPNGPIG EYSLLGRSLE ERGKLRNNEE DPDGGKVEEI LEAGALSYTV TGLRPWTQYE
FSICTHNPAG QACSPWVTVT TRQAPPRGLA SPTVRHVHGR PSEVVVSWTP PLEPNGVLQS
YRIQRNNVNF KFSFDPTVLT YKDEDLHPFS TYSYSVTACT SEGCTTSPQT KIITLEAPPE
TVERPTVDAI TSHHINVSWS KPLMQNGQVT EYVLKLNNKE AYRGRDLNAA LSYLQPHTSY
QLVLLACTRG GCTTSSTKTV VTEEAPPTHL AAPTLKVTGP ESVEITWRPP DRPNGIITGY
ELRRDGEVIY IGRDTHYHDF TLMPSMEYSY VVRANNSKGA VSSEVATAKT HQSAPSGVGF
PALTSLEVAV EWQTPARPNG DIVSYAVYLR DPVHLNVTSS VFTPEDSAFS DKRIILRGLF
PYHRYEVRVE ACTELGCSSS DWSSILTLEA PPADQPAPLL DLTSDPHTDL QTSFLLTWSP
PGQSNGRILH YEVHRRQDSS ETDETSSATV VYRNVSTSFK DGGLQPYTEY QYQVWAVNSA
GYASSPWVSG RTGPAPPQGV GLPIFLDVSA TSAVVNIHPP AQPNGIVSLF RVFSLDRTNI
TTLVLSEGTS HQQTLHGLRP YTQYLVGIEA CTCYQCCSQG PVRELHTLAA PPADQPRPRL
LTLTSRSVQM EWDEPTAPNG VIDSCELHIR TSCPQPPQPV PSACTEGPTE ICFFGKHDIS
VFNCAGLQPY SAYELRTACF NKMGSTASNW TAVSTLSEPP QYVSPFSVDS NLTMIWLDWT
ETFSLNGFLK EYTVTESQLR VYTGFYSHLH IPRTSRKSEG PHGKHIHMLC NNVQPLKHNN
SQVCPLEPVD GDKQGVSISA TPVYSELWFI LLFVLLGLFL LAILIGLLLR RYIHVKKNPS
ARERPPLVML QKSRKAGGDA YKGLADTKIV SSSSRYSPMS VLRAPSQTDL TQAYPQHSLH
RSVSQLIDRK SLIEEGCWDN PLGHDSGLYV EDDEFVDAIK ALSSVKKEHS LFTDTHL
//
