CAD23_HUMAN » Cadherin-23

CAD23_HUMAN » Cadherin-23
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
CAD23_HUMAN » Cadherin-23 » Otocadherin;
Hydrophobic Thickness 42.8 ± 0.4 Å
Tilt Angle 0 ± 0°
ΔGtransfer -57.1 kcal/mol
ΔGfold -34.7 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 3062-3090 (3059-3094)
Pathways none
PDB 2kbr (B=3183-3200), 2lsr (B=3212-3227), 2kbs (B=3347-3354)
OPM none
Complexes

CAD23:PCD15_MOUSE

Interactions

PCD15, Complex: CAD23:PCD15, PDBID: 4APX

Domains

AA: 39-122, PDBID: 2WBX, Subunit A, Seq Identity:99%, Cadherin domain

AA: 137-227, PDBID: 2WCP, Subunit A, Seq Identity:96%, Cadherin domain

AA: 241-337, PDBID: 2EE0, Subunit A, Seq Identity:30%, Cadherin domain

AA: 465-552, PDBID: 4ZI9, Subunit B, Seq Identity:38%, Cadherin domain

AA: 566-662, PDBID: 4ZPM, Subunit A, Seq Identity:32%, Cadherin domain

AA: 676-769, PDBID: 3PPE, Subunit A, Seq Identity:35%, Cadherin domain

AA: 783-879, PDBID: 4ZPM, Subunit A, Seq Identity:32%, Cadherin domain

AA: 895-986, PDBID: 2O72, Subunit A, Seq Identity:34%, Cadherin domain

AA: 1000-1093, PDBID: 4ZPM, Subunit A, Seq Identity:32%, Cadherin domain

AA: 1107-1199, PDBID: 2A62, Subunit A, Seq Identity:35%, Cadherin domain

AA: 1215-1304, PDBID: 4ZPM, Subunit A, Seq Identity:35%, Cadherin domain

AA: 1318-1409, PDBID: 2EE0, Subunit A, Seq Identity:31%, Cadherin domain

AA: 1424-1518, PDBID: 4ZPM, Subunit A, Seq Identity:35%, Cadherin domain

AA: 1533-1625, PDBID: 2A4E, Subunit A, Seq Identity:36%, Cadherin domain

AA: 1639-1735, PDBID: 3PPE, Subunit A, Seq Identity:29%, Cadherin domain

AA: 1751-1842, PDBID: 4ZPL, Subunit A, Seq Identity:33%, Cadherin domain

AA: 1856-1940, PDBID: 2WBX, Subunit A, Seq Identity:41%, Cadherin domain

AA: 2074-2165, PDBID: 4ZPM, Subunit A, Seq Identity:41%, Cadherin domain

AA: 2179-2284, PDBID: 4ZPS, Subunit A, Seq Identity:28%, Cadherin domain

AA: 2301-2393, PDBID: 2YST, Subunit A, Seq Identity:31%, Cadherin domain

AA: 2407-2500, PDBID: 2EE0, Subunit A, Seq Identity:34%, Cadherin domain

AA: 2514-2602, PDBID: 4ZPL, Subunit A, Seq Identity:38%, Cadherin domain

AA: 2619-2712, PDBID: 4ZPN, Subunit B, Seq Identity:31%, Cadherin domain

AA: 2733-2823, PDBID: 2WBX, Subunit A, Seq Identity:32%, Cadherin domain

UniProt annotation for CAD23_HUMAN » Cadherin-23
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

SUBUNIT: antiparallel heterodimer with PCDH15 (By similarity). Interacts with USH1C and USH1G.

TISSUE SPECIFICITY: Particularly strong expression in the retina. Found also in the cochlea.

DOMAIN: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

DOMAIN: Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15.

DISEASE: Usher syndrome 1D (USH1D) 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Usher syndrome 1D/F (USH1DF) OMIM: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. mutations affecting distinct genetic loci, including the gene represented in this entry.

DISEASE: Deafness, autosomal recessive, 12 (DFNB12) OMIM: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. mutations affecting the gene represented in this entry.

UniProt features for CAD23_HUMAN » Cadherin-23
SIGNAL 1 23 Potential.
CHAIN 24 3354 Cadherin-23.
DOMAIN 34 132 Cadherin 1.
DOMAIN 133 236 Cadherin 2.
DOMAIN 237 348 Cadherin 3.
DOMAIN 349 460 Cadherin 4.
DOMAIN 461 561 Cadherin 5.
DOMAIN 562 671 Cadherin 6.
DOMAIN 672 784 Cadherin 7.
DOMAIN 779 890 Cadherin 8.
DOMAIN 891 995 Cadherin 9.
DOMAIN 996 1102 Cadherin 10.
DOMAIN 1103 1208 Cadherin 11.
DOMAIN 1210 1313 Cadherin 12.
DOMAIN 1314 1418 Cadherin 13.
DOMAIN 1420 1527 Cadherin 14.
DOMAIN 1529 1634 Cadherin 15.
DOMAIN 1635 1744 Cadherin 16.
DOMAIN 1745 1851 Cadherin 17.
DOMAIN 1852 1959 Cadherin 18.
DOMAIN 1960 2069 Cadherin 19.
DOMAIN 2070 2174 Cadherin 20.
DOMAIN 2175 2293 Cadherin 21.
DOMAIN 2297 2402 Cadherin 22.
DOMAIN 2403 2509 Cadherin 23.
DOMAIN 2510 2611 Cadherin 24.
DOMAIN 2614 2722 Cadherin 25.
DOMAIN 2729 2846 Cadherin 26.
DOMAIN 2847 2975 Cadherin 27.
Amino Acid Sequence for CAD23_HUMAN » Cadherin-23
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF DAYTSTQAKA LFKIDAITGV ITVQGLVDRE KGDFYTLTVV ADDGGPKVDS TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT VKAWDPDAGS NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV RATDRDIGIN SVLSYYITEG NKDMTFRMDR ISGEIATRPA PPDRERQSFY HLVATVEDEG TPTLSATTHV YVTIVDENDN APMFQQPHYE VLLDEGPDTL NTSLITIQAL DLDEGPNGTV TYAIVAGNIV NTFRIDRHMG VITAAKELDY EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN VPTFPRDYEG PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV LLNLPMNITI SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF INATTGIVTV NRPLDRERIP EYKLTISVKD NPENPRIARR DYDLLLIFLS DENDNHPLFT KSTYQAEVME NSPAGTPLTV LNGPILALDA DQDIYAVVTY QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL LLAEDIGLLN STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG TVPLSGTAIV TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID HDLNPKLEYH IVGIVAKDDT DRLVPNQEDA FAVNINTGSV MVKSPMNREL VATYEVTLSV IDNASDLPER SVSVPNAKLT VNVLDVNDNT PQFKPFGITY YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP PGYVQLEDSS AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI NPTTGDIYVL SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL DVNDCRPQFS KPQFSTSVYE NEPAGTSVIT MMATDQDEGP NGELTYSLEG PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT VVATDGGEPP LWGTTMLLVE VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK DEGLNGAVRY SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV TGAVDADEGP NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS FIVKASSNRS WTPPRGPSPT LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE YTAGVATDAK VGSELIQVLA LDADIGNNSL VFYSILAIHY FRALANDSED VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH NDTAIIGIYI LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV QPAISVRLPD DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA IVAGSAGNRG FIDIMDMPNT NKYSFDGANP VWLDPFCRNL ELAAQAEHED DLPENLSEIA DLWNSPTRTH GTFGREPAAV KPDDDRYLRA AIQEYDNIAK LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC HSSISELIQT ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE ITEL