USH2A_HUMAN » Usherin

USH2A_HUMAN » Usherin
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
USH2A_HUMAN » Usherin » Usher syndrome type-2A protein;Usher syndrome type IIa protein;
Hydrophobic Thickness 34.4 ± 4.2 Å
Tilt Angle 1 ± 7°
ΔGtransfer -30.8 kcal/mol
ΔGfold -27.4 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 5040-5063 (5038-5070)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 130-286, PDBID: 4QVS, Subunit A, Seq Identity:11%, Concanavalin A-like lectin/glucanases superfamily

AA: 292-516, PDBID: 2Y38, Subunit A, Seq Identity:21%, Laminin N-terminal (Domain VI)

AA: 518-566, PDBID: 4AQT, Subunit A, Seq Identity:44%, Laminin EGF domain

AA: 575-634, PDBID: 4AQS, Subunit A, Seq Identity:46%, Laminin EGF domain

AA: 641-691, PDBID: 4AQS, Subunit A, Seq Identity:45%, Laminin EGF domain

AA: 694-744, PDBID: 4AQS, Subunit A, Seq Identity:42%, Laminin EGF domain

AA: 747-794, PDBID: 4OVE, Subunit A, Seq Identity:36%, Laminin EGF domain

AA: 795-844, PDBID: 4OVE, Subunit A, Seq Identity:41%, Laminin EGF domain

AA: 847-897, PDBID: 4AQS, Subunit A, Seq Identity:46%, Laminin EGF domain

AA: 900-948, PDBID: 4AQS, Subunit A, Seq Identity:42%, Laminin EGF domain

AA: 951-999, PDBID: 4AQS, Subunit A, Seq Identity:37%, Laminin EGF domain

AA: 1002-1050, PDBID: 4OVE, Subunit A, Seq Identity:45%, Laminin EGF domain

AA: 1147-1231, PDBID: 1TDQ, Subunit A, Seq Identity:29%, Fibronectin type III domain

AA: 1243-1351, PDBID: 1X5G, Subunit A, Seq Identity:26%, Fibronectin type III domain

AA: 1367-1456, PDBID: 1OWW, Subunit A, Seq Identity:27%, Fibronectin type III domain

AA: 1548-1681, PDBID: 3POY, Subunit A, Seq Identity:20%, Laminin G domain

AA: 1744-1871, PDBID: 1DYK, Subunit A, Seq Identity:24%, Laminin G domain

AA: 1956-2044, PDBID: 2EE2, Subunit A, Seq Identity:26%, Fibronectin type III domain

AA: 2437-2522, PDBID: 1X5G, Subunit A, Seq Identity:34%, Fibronectin type III domain

AA: 2534-2614, PDBID: 3L5H, Subunit A, Seq Identity:28%, Fibronectin type III domain

AA: 2628-2712, PDBID: 3L5H, Subunit A, Seq Identity:28%, Fibronectin type III domain

AA: 2725-2803, PDBID: 2V5Y, Subunit A, Seq Identity:27%, Fibronectin type III domain

AA: 2927-3006, PDBID: 1X5G, Subunit A, Seq Identity:32%, Fibronectin type III domain

AA: 3592-3670, PDBID: 1X5G, Subunit A, Seq Identity:30%, Fibronectin type III domain

AA: 3776-3856, PDBID: 1WK0, Subunit A, Seq Identity:27%, Fibronectin type III domain

AA: 3969-4057, PDBID: 1X5G, Subunit A, Seq Identity:30%, Fibronectin type III domain

AA: 4159-4253, PDBID: 2EDY, Subunit A, Seq Identity:25%, Fibronectin type III domain

AA: 4357-4432, PDBID: 1X5G, Subunit A, Seq Identity:29%, Fibronectin type III domain

AA: 4533-4621, PDBID: 1X5G, Subunit A, Seq Identity:29%, Fibronectin type III domain

AA: 4827-4921, PDBID: 1CN4, Subunit B, Seq Identity:28%, Fibronectin type III domain

UniProt annotation for USH2A_HUMAN » Usherin
FUNCTION: Involved in hearing and vision.

SUBUNIT: Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane. Interacts with USH1C and WHRN. Interacts with NINL. Interacts with PDZD7.

TISSUE SPECIFICITY: Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch"s layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.

DOMAIN: The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.

DISEASE: Usher syndrome 2A (USH2A) OMIM: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Retinitis pigmentosa 39 (RP39) OMIM: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. mutations affecting the gene represented in this entry.

UniProt features for USH2A_HUMAN » Usherin
SIGNAL 1 31 Potential.
CHAIN 32 5202 Usherin.
DOMAIN 271 517 Laminin N-terminal.
DOMAIN 518 574 Laminin EGF-like 1.
DOMAIN 575 640 Laminin EGF-like 2.
DOMAIN 641 693 Laminin EGF-like 3.
DOMAIN 694 746 Laminin EGF-like 4.
DOMAIN 747 794 Laminin EGF-like 5.
DOMAIN 795 846 Laminin EGF-like 6.
DOMAIN 847 899 Laminin EGF-like 7.
DOMAIN 900 950 Laminin EGF-like 8.
DOMAIN 951 1001 Laminin EGF-like 9.
DOMAIN 1002 1052 Laminin EGF-like 10.
DOMAIN 1058 1143 Fibronectin type-III 1.
DOMAIN 1145 1238 Fibronectin type-III 2.
DOMAIN 1242 1357 Fibronectin type-III 3.
DOMAIN 1367 1462 Fibronectin type-III 4.
DOMAIN 1517 1709 Laminin G-like 1.
DOMAIN 1714 1891 Laminin G-like 2.
DOMAIN 1871 1949 Fibronectin type-III 5.
DOMAIN 1954 2051 Fibronectin type-III 6.
DOMAIN 2052 2138 Fibronectin type-III 7.
DOMAIN 2142 2236 Fibronectin type-III 8.
DOMAIN 2241 2325 Fibronectin type-III 9.
DOMAIN 2328 2432 Fibronectin type-III 10.
DOMAIN 2435 2528 Fibronectin type-III 11.
DOMAIN 2533 2619 Fibronectin type-III 12.
DOMAIN 2621 2718 Fibronectin type-III 13.
DOMAIN 2724 2812 Fibronectin type-III 14.
DOMAIN 2821 2920 Fibronectin type-III 15.
DOMAIN 2925 3015 Fibronectin type-III 16.
DOMAIN 3020 3105 Fibronectin type-III 17.
DOMAIN 3110 3200 Fibronectin type-III 18.
DOMAIN 3404 3494 Fibronectin type-III 19.
DOMAIN 3499 3585 Fibronectin type-III 20.
DOMAIN 3590 3676 Fibronectin type-III 21.
DOMAIN 3677 3767 Fibronectin type-III 22.
DOMAIN 3768 3862 Fibronectin type-III 23.
DOMAIN 3863 3960 Fibronectin type-III 24.
DOMAIN 3961 4062 Fibronectin type-III 25.
DOMAIN 4066 4150 Fibronectin type-III 26.
DOMAIN 4154 4258 Fibronectin type-III 27.
DOMAIN 4265 4351 Fibronectin type-III 28.
DOMAIN 4356 4439 Fibronectin type-III 29.
DOMAIN 4444 4528 Fibronectin type-III 30.
DOMAIN 4529 4627 Fibronectin type-III 31.
DOMAIN 4633 4730 Fibronectin type-III 32.
DOMAIN 4732 4825 Fibronectin type-III 33.
DOMAIN 4826 4927 Fibronectin type-III 34.
DOMAIN 4928 5014 Fibronectin type-III 35.
MOTIF 5200 5202 PDZ-binding.
DISULFID 518 527 By similarity.
DISULFID 520 536 By similarity.
DISULFID 538 549 By similarity.
DISULFID 552 572 By similarity.
DISULFID 575 584 By similarity.
DISULFID 577 605 By similarity.
DISULFID 608 617 By similarity.
DISULFID 620 638 By similarity.
DISULFID 641 655 By similarity.
DISULFID 643 662 By similarity.
DISULFID 664 673 By similarity.
DISULFID 676 691 By similarity.
DISULFID 694 708 By similarity.
DISULFID 696 715 By similarity.
DISULFID 717 726 By similarity.
DISULFID 729 744 By similarity.
DISULFID 747 759 By similarity.
DISULFID 749 766 By similarity.
DISULFID 768 777 By similarity.
DISULFID 780 792 By similarity.
DISULFID 795 808 By similarity.
DISULFID 797 815 By similarity.
DISULFID 817 826 By similarity.
DISULFID 829 844 By similarity.
DISULFID 847 861 By similarity.
DISULFID 849 868 By similarity.
DISULFID 870 879 By similarity.
DISULFID 882 897 By similarity.
DISULFID 900 913 By similarity.
DISULFID 902 920 By similarity.
DISULFID 922 931 By similarity.
DISULFID 934 948 By similarity.
DISULFID 951 963 By similarity.
DISULFID 953 970 By similarity.
DISULFID 972 982 By similarity.
DISULFID 985 999 By similarity.
DISULFID 1002 1014 By similarity.
DISULFID 1004 1021 By similarity.
DISULFID 1023 1032 By similarity.
DISULFID 1035 1050 By similarity.
DISULFID 1672 1709 By similarity.
DISULFID 1862 1891 By similarity.
DISULFID 3371 3444 By similarity.
DISULFID 3399 3425 By similarity.
Amino Acid Sequence for USH2A_HUMAN » Usherin
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