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Q9H251

- CAD23_HUMAN

UniProt

Q9H251 - CAD23_HUMAN

Protein

Cadherin-23

Gene

CDH23

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (03 Oct 2012)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein binding Source: HGNC

    GO - Biological processi

    1. calcium-dependent cell-cell adhesion Source: UniProtKB
    2. calcium ion transport Source: DFLAT
    3. cytosolic calcium ion homeostasis Source: DFLAT
    4. equilibrioception Source: HGNC
    5. homophilic cell adhesion Source: InterPro
    6. photoreceptor cell maintenance Source: HGNC
    7. response to stimulus Source: UniProtKB-KW
    8. sensory perception of light stimulus Source: HGNC
    9. sensory perception of sound Source: DFLAT
    10. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Cell adhesion, Hearing, Sensory transduction, Vision

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cadherin-23
    Alternative name(s):
    Otocadherin
    Gene namesi
    Name:CDH23
    Synonyms:KIAA1774, KIAA1812
    ORF Names:UNQ1894/PRO4340
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:13733. CDH23.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. membrane Source: UniProtKB
    3. plasma membrane Source: UniProtKB-SubCell
    4. stereocilium Source: HGNC

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Usher syndrome 1D (USH1D) [MIM:601067]: 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti247 – 2471E → K in USH1D. 1 Publication
    VAR_027318
    Natural varianti366 – 3661A → T in USH1D. 2 Publications
    Corresponds to variant rs143282422 [ dbSNP | Ensembl ].
    VAR_024030
    Natural varianti484 – 4841A → P in USH1D. 1 Publication
    VAR_027321
    Natural varianti755 – 7551H → Y in USH1D. 1 Publication
    VAR_046407
    Natural varianti1090 – 10901V → I in USH1D. 1 Publication
    VAR_046410
    Natural varianti1098 – 10981N → S in USH1D. 1 Publication
    Corresponds to variant rs41281310 [ dbSNP | Ensembl ].
    VAR_046411
    Natural varianti1206 – 12061P → R in USH1D. 1 Publication
    VAR_027325
    Natural varianti1209 – 12091T → A in USH1D. 2 Publications
    Corresponds to variant rs41281314 [ dbSNP | Ensembl ].
    VAR_024031
    Natural varianti1281 – 12811Missing in USH1D. 1 Publication
    VAR_012171
    Natural varianti1496 – 14961Q → H in USH1D. 2 Publications
    VAR_012174
    Natural varianti1507 – 15071R → Q in USH1D. 1 Publication
    VAR_024032
    Natural varianti1746 – 17461R → Q in USH1D; mild retinal affection. 1 Publication
    VAR_012178
    Natural varianti1788 – 17881P → L in USH1D. 1 Publication
    VAR_046419
    Natural varianti1912 – 19121R → W in USH1D. 1 Publication
    VAR_046423
    Natural varianti1930 – 19301D → N in USH1D. 1 Publication
    VAR_046424
    Natural varianti2017 – 20171G → S in USH1D; most likely affects splicing. 2 Publications
    VAR_027334
    Natural varianti2376 – 23761D → V in USH1D. 1 Publication
    VAR_046429
    Natural varianti2517 – 25171S → G in USH1D. 1 Publication
    VAR_027340
    Natural varianti2530 – 25301T → I in USH1D. 1 Publication
    VAR_046432
    Natural varianti2744 – 27441G → S in USH1D; atypical. 1 Publication
    VAR_027342
    Natural varianti2771 – 27711G → S in USH1D. 1 Publication
    VAR_046434
    Natural varianti2833 – 28331R → G in USH1D; atypical. 1 Publication
    VAR_027343
    Natural varianti2968 – 29681V → A in USH1D. 1 Publication
    VAR_046437
    Natural varianti3175 – 31751R → H in USH1D. 1 Publication
    VAR_027347
    Natural varianti3189 – 31891R → W in USH1D and USH1DF. 2 Publications
    VAR_024033
    Natural varianti3245 – 32451S → F in USH1D. 1 Publication
    VAR_024034
    Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.1 Publication
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3189 – 31891R → W in USH1D and USH1DF. 2 Publications
    VAR_024033
    Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241D → G in DFNB12. 1 Publication
    VAR_027317
    Natural varianti240 – 2401P → L in DFNB12. 1 Publication
    Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
    VAR_046404
    Natural varianti301 – 3011R → Q in DFNB12. 1 Publication
    VAR_046405
    Natural varianti452 – 4521N → S in DFNB12. 1 Publication
    VAR_027319
    Natural varianti480 – 4801L → Q in DFNB12. 1 Publication
    VAR_027320
    Natural varianti582 – 5821R → Q in DFNB12. 1 Publication
    VAR_027322
    Natural varianti990 – 9901D → N in DFNB12. 1 Publication
    VAR_012169
    Natural varianti1060 – 10601R → W in DFNB12. 2 Publications
    VAR_027323
    Natural varianti1186 – 11861G → D in DFNB12. 1 Publication
    VAR_027324
    Natural varianti1341 – 13411D → N in DFNB12. 1 Publication
    VAR_027326
    Natural varianti1586 – 15861A → P in DFNB12. 1 Publication
    VAR_027328
    Natural varianti1595 – 15951E → K in DFNB12. 1 Publication
    VAR_027329
    Natural varianti1716 – 17161Q → P in DFNB12. 1 Publication
    VAR_046418
    Natural varianti1846 – 18461D → N in DFNB12. 1 Publication
    VAR_027331
    Natural varianti1888 – 18881F → S in DFNB12. 1 Publication
    VAR_027333
    Natural varianti2029 – 20291R → W in DFNB12. 1 Publication
    VAR_046425
    Natural varianti2045 – 20451D → N in DFNB12. 1 Publication
    VAR_012182
    Natural varianti2148 – 21481D → N in DFNB12. 1 Publication
    VAR_027336
    Natural varianti2202 – 22021D → N in DFNB12. 1 Publication
    VAR_012183
    Natural varianti2465 – 24651R → W in DFNB12. 1 Publication
    VAR_027339
    Natural varianti2608 – 26081R → H in DFNB12. 1 Publication
    VAR_027341
    Natural varianti2950 – 29501I → N in DFNB12. 1 Publication
    VAR_012187
    Natural varianti2956 – 29561R → C in DFNB12. 1 Publication
    VAR_012188
    Natural varianti3059 – 30591P → T in DFNB12. 1 Publication
    VAR_012189

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

    Organism-specific databases

    MIMi276900. phenotype.
    601067. phenotype.
    601386. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBiPA26296.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 33543331Cadherin-23PRO_0000003824Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi155 – 1551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi349 – 3491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi393 – 3931N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi434 – 4341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi466 – 4661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi472 – 4721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi652 – 6521N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi694 – 6941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi765 – 7651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi810 – 8101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi827 – 8271N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi941 – 9411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1001 – 10011N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1018 – 10181N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1171 – 11711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1282 – 12821N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1315 – 13151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1473 – 14731N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1534 – 15341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1651 – 16511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1667 – 16671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1818 – 18181N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1857 – 18571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1889 – 18891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1902 – 19021N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2013 – 20131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2050 – 20501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2129 – 21291N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2168 – 21681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2195 – 21951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2263 – 22631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2357 – 23571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2369 – 23691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2616 – 26161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2749 – 27491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2808 – 28081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2877 – 28771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2896 – 28961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2941 – 29411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2981 – 29811N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9H251.
    PRIDEiQ9H251.

    PTM databases

    PhosphoSiteiQ9H251.

    Expressioni

    Tissue specificityi

    Particularly strong expression in the retina. Found also in the cochlea.

    Gene expression databases

    ArrayExpressiQ9H251.
    BgeeiQ9H251.
    CleanExiHS_CDH23.
    GenevestigatoriQ9H251.

    Organism-specific databases

    HPAiHPA017232.

    Interactioni

    Subunit structurei

    antiparallel heterodimer with PCDH15 By similarity. Interacts with USH1C and USH1G.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi122042. 3 interactions.
    DIPiDIP-48786N.
    IntActiQ9H251. 1 interaction.
    MINTiMINT-4830802.
    STRINGi9606.ENSP00000381822.

    Structurei

    Secondary structure

    1
    3354
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi3187 – 319812
    Helixi3214 – 322613
    Beta strandi3351 – 33533

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2KBRNMR-B3183-3200[»]
    2KBSNMR-B3347-3354[»]
    2LSRNMR-B3212-3227[»]
    ProteinModelPortaliQ9H251.
    SMRiQ9H251. Positions 24-2940.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9H251.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini24 – 30643041ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini3086 – 3354269CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3065 – 308521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini34 – 13299Cadherin 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini133 – 236104Cadherin 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini237 – 348112Cadherin 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini349 – 460112Cadherin 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini461 – 561101Cadherin 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini562 – 671110Cadherin 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini672 – 784113Cadherin 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini779 – 890112Cadherin 8PROSITE-ProRule annotationAdd
    BLAST
    Domaini891 – 995105Cadherin 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini996 – 1102107Cadherin 10PROSITE-ProRule annotationAdd
    BLAST
    Domaini1103 – 1208106Cadherin 11PROSITE-ProRule annotationAdd
    BLAST
    Domaini1210 – 1313104Cadherin 12PROSITE-ProRule annotationAdd
    BLAST
    Domaini1314 – 1418105Cadherin 13PROSITE-ProRule annotationAdd
    BLAST
    Domaini1420 – 1527108Cadherin 14PROSITE-ProRule annotationAdd
    BLAST
    Domaini1529 – 1634106Cadherin 15PROSITE-ProRule annotationAdd
    BLAST
    Domaini1635 – 1744110Cadherin 16PROSITE-ProRule annotationAdd
    BLAST
    Domaini1745 – 1851107Cadherin 17PROSITE-ProRule annotationAdd
    BLAST
    Domaini1852 – 1959108Cadherin 18PROSITE-ProRule annotationAdd
    BLAST
    Domaini1960 – 2069110Cadherin 19PROSITE-ProRule annotationAdd
    BLAST
    Domaini2070 – 2174105Cadherin 20PROSITE-ProRule annotationAdd
    BLAST
    Domaini2175 – 2293119Cadherin 21PROSITE-ProRule annotationAdd
    BLAST
    Domaini2297 – 2402106Cadherin 22PROSITE-ProRule annotationAdd
    BLAST
    Domaini2403 – 2509107Cadherin 23PROSITE-ProRule annotationAdd
    BLAST
    Domaini2510 – 2611102Cadherin 24PROSITE-ProRule annotationAdd
    BLAST
    Domaini2614 – 2722109Cadherin 25PROSITE-ProRule annotationAdd
    BLAST
    Domaini2729 – 2846118Cadherin 26PROSITE-ProRule annotationAdd
    BLAST
    Domaini2847 – 2975129Cadherin 27PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    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.By similarity
    Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15.By similarity

    Sequence similaritiesi

    Contains 27 cadherin domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG12793.
    HOGENOMiHOG000139588.
    HOVERGENiHBG050768.
    KOiK06813.
    OrthoDBiEOG7FFMQP.
    TreeFamiTF320624.

    Family and domain databases

    Gene3Di2.60.40.60. 27 hits.
    InterProiIPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    [Graphical view]
    PfamiPF00028. Cadherin. 24 hits.
    [Graphical view]
    PRINTSiPR00205. CADHERIN.
    SMARTiSM00112. CA. 26 hits.
    [Graphical view]
    SUPFAMiSSF49313. SSF49313. 27 hits.
    PROSITEiPS00232. CADHERIN_1. 17 hits.
    PS50268. CADHERIN_2. 27 hits.
    [Graphical view]

    Sequences (11)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 11 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q9H251-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS     50
    SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE 100
    FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP 150
    IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA 200
    YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP 250
    PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD 300
    RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS 350
    SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII 400
    SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL 450
    INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS 500
    DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN 550
    VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI 600
    VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP 650
    LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR 700
    SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD 750
    GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV 800
    VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA 850
    ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL 900
    EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT 950
    TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY 1000
    NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA 1050
    VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP 1100
    IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF 1150
    RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED 1200
    INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS 1250
    GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY 1300
    ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF 1350
    NAYTSTQAKA LFKIDAITGV ITVQGLVDRE KGDFYTLTVV ADDGGPKVDS 1400
    TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT VKAWDPDAGS 1450
    NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS 1500
    DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV 1550
    RATDRDIGIN SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY 1600
    HLVATVEDEG TPTLSATTHV YVTIVDENDN APMFQQPHYE VLLDEGPDTL 1650
    NTSLITIQAL DLDEGPNGTV TYAIVAGNIV NTFRIDRHMG VITAAKELDY 1700
    EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN VPTFPRDYEG 1750
    PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV 1800
    LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV 1850
    LLNLPMNITI SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF 1900
    INATTGIVTV NRPLDRERIP EYKLTISVKD NPENPRIARR DYDLLLIFLS 1950
    DENDNHPLFT KSTYQAEVME NSPAGTPLTV LNGPILALDA DQDIYAVVTY 2000
    QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL LLAEDIGLLN 2050
    STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL 2100
    NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG 2150
    TVPLSGTAIV TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID 2200
    HDLNPKLEYH IVGIVAKDDT DRLVPNQEDA FAVNINTGSV MVKSPMNREL 2250
    VATYEVTLSV IDNASDLPER SVSVPNAKLT VNVLDVNDNT PQFKPFGITY 2300
    YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP PGYVQLEDSS 2350
    AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP 2400
    IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI 2450
    NPTTGDIYVL SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL 2500
    DVNDCRPQFS KPQFSTSVYE NEPAGTSVIT MMATDQDEGP NGELTYSLEG 2550
    PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT VVATDGGEPP LWGTTMLLVE 2600
    VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK DEGLNGAVRY 2650
    SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV 2700
    PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV 2750
    TGAVDADEGP NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS 2800
    FIVKASSNRS WTPPRGPSPT LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE 2850
    YTAGVATDAK VGSELIQVLA LDADIGNNSL VFYSILAIHY FRALANDSED 2900
    VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH NDTAIIGIYI 2950
    LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG 3000
    RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV 3050
    QPAISVRLPD DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA 3100
    IVAGSAGNRG FIDIMDMPNT NKYSFDGANP VWLDPFCRNL ELAAQAEHED 3150
    DLPENLSEIA DLWNSPTRTH GTFGREPAAV KPDDDRYLRA AIQEYDNIAK 3200
    LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC HSSISELIQT 3250
    ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL 3300
    PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE 3350
    ITEL 3354
    Length:3,354
    Mass (Da):369,494
    Last modified:October 3, 2012 - v2
    Checksum:i1B68045A7FFA97BA
    GO
    Isoform 2 (identifier: Q9H251-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         379-380: Missing.

    Show »
    Length:3,352
    Mass (Da):369,267
    Checksum:i2E71F065CB48A95A
    GO
    Isoform 3 (identifier: Q9H251-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1403-1403: Missing.

    Show »
    Length:3,353
    Mass (Da):369,366
    Checksum:i9E75DD8B3E662D33
    GO
    Isoform 4 (identifier: Q9H251-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3212-3246: Missing.

    Show »
    Length:3,319
    Mass (Da):365,546
    Checksum:i2EE8C5D6390FBCD3
    GO
    Isoform 5 (identifier: Q9H251-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         484-530: ATDNDAGTFG...LDYELIQRFT → VSPRFTAGPL...QIPELCLLVY
         531-3354: Missing.

    Show »
    Length:530
    Mass (Da):58,579
    Checksum:iA02B8FDD86A37181
    GO
    Isoform 6 (identifier: Q9H251-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1124-1212: LKATDADEGE...DEAPVFTQQQ → EEDLASPCIS...QGSEGEKGGP
         1213-3354: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,212
    Mass (Da):133,118
    Checksum:i6EECD6D0BBC429A7
    GO
    Isoform 7 (identifier: Q9H251-7) [UniParc]FASTAAdd to Basket

    Also known as: B1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-2240: Missing.

    Show »
    Length:1,114
    Mass (Da):123,516
    Checksum:i146974C979A46F4C
    GO
    Isoform 8 (identifier: Q9H251-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         143-143: E → EVGATG
         379-380: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:3,357
    Mass (Da):369,652
    Checksum:i46EECDE09AEF4945
    GO
    Isoform 9 (identifier: Q9H251-9) [UniParc]FASTAAdd to Basket

    Also known as: B2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-2240: Missing.
         3212-3246: Missing.

    Show »
    Length:1,079
    Mass (Da):119,569
    Checksum:i60B22E61E279DA82
    GO
    Isoform 10 (identifier: Q9H251-10) [UniParc]FASTAAdd to Basket

    Also known as: C1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-24: MGRHVATSCHVAWLLVLISGCWGQ → MRSWFQQDPMVGACTTGTRASHPK
         25-3127: Missing.

    Show »
    Length:251
    Mass (Da):27,847
    Checksum:iFD4C927F1054FC01
    GO
    Isoform 11 (identifier: Q9H251-11) [UniParc]FASTAAdd to Basket

    Also known as: C2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-24: MGRHVATSCHVAWLLVLISGCWGQ → MRSWFQQDPMVGACTTGTRASHPK
         25-3127: Missing.
         3212-3246: Missing.

    Show »
    Length:216
    Mass (Da):23,900
    Checksum:iFDE951E65334C527
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti985 – 9851V → L in AAG27034. (PubMed:11090341)Curated
    Sequence conflicti1403 – 14031K → V in AAG27034. (PubMed:11090341)Curated
    Sequence conflicti2173 – 223664EFLNP…AVNIN → ASWEGQSHVTQAYEEAVGPP QPQVPDSTGDRHPLWGLGGF GQEHPWEGQILGGSSQAEPG LVWS in BAB61902. (PubMed:11597768)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31R → C.3 Publications
    Corresponds to variant rs7902757 [ dbSNP | Ensembl ].
    VAR_012166
    Natural varianti124 – 1241D → G in DFNB12. 1 Publication
    VAR_027317
    Natural varianti240 – 2401P → L in DFNB12. 1 Publication
    Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
    VAR_046404
    Natural varianti247 – 2471E → K in USH1D. 1 Publication
    VAR_027318
    Natural varianti301 – 3011R → Q in DFNB12. 1 Publication
    VAR_046405
    Natural varianti366 – 3661A → T in USH1D. 2 Publications
    Corresponds to variant rs143282422 [ dbSNP | Ensembl ].
    VAR_024030
    Natural varianti452 – 4521N → S in DFNB12. 1 Publication
    VAR_027319
    Natural varianti480 – 4801L → Q in DFNB12. 1 Publication
    VAR_027320
    Natural varianti484 – 4841A → P in USH1D. 1 Publication
    VAR_027321
    Natural varianti490 – 4901G → A.3 Publications
    Corresponds to variant rs1227049 [ dbSNP | Ensembl ].
    VAR_012167
    Natural varianti496 – 4961S → N.4 Publications
    Corresponds to variant rs10999947 [ dbSNP | Ensembl ].
    VAR_012168
    Natural varianti582 – 5821R → Q in DFNB12. 1 Publication
    VAR_027322
    Natural varianti746 – 7461V → I.1 Publication
    VAR_046406
    Natural varianti755 – 7551H → Y in USH1D. 1 Publication
    VAR_046407
    Natural varianti944 – 9441S → G.1 Publication
    VAR_046408
    Natural varianti960 – 9601E → K.1 Publication
    VAR_046409
    Natural varianti990 – 9901D → N in DFNB12. 1 Publication
    VAR_012169
    Natural varianti1060 – 10601R → W in DFNB12. 2 Publications
    VAR_027323
    Natural varianti1090 – 10901V → I in USH1D. 1 Publication
    VAR_046410
    Natural varianti1098 – 10981N → S in USH1D. 1 Publication
    Corresponds to variant rs41281310 [ dbSNP | Ensembl ].
    VAR_046411
    Natural varianti1186 – 11861G → D in DFNB12. 1 Publication
    VAR_027324
    Natural varianti1206 – 12061P → R in USH1D. 1 Publication
    VAR_027325
    Natural varianti1209 – 12091T → A in USH1D. 2 Publications
    Corresponds to variant rs41281314 [ dbSNP | Ensembl ].
    VAR_024031
    Natural varianti1222 – 12221A → T.3 Publications
    Corresponds to variant rs41281316 [ dbSNP | Ensembl ].
    VAR_012170
    Natural varianti1236 – 12361R → Q.1 Publication
    VAR_046412
    Natural varianti1281 – 12811Missing in USH1D. 1 Publication
    VAR_012171
    Natural varianti1282 – 12821N → S.1 Publication
    VAR_046413
    Natural varianti1341 – 13411D → N in DFNB12. 1 Publication
    VAR_027326
    Natural varianti1349 – 13491R → C.2 Publications
    Corresponds to variant rs41281318 [ dbSNP | Ensembl ].
    VAR_012172
    Natural varianti1351 – 13511N → D.3 Publications
    Corresponds to variant rs1227065 [ dbSNP | Ensembl ].
    VAR_012173
    Natural varianti1417 – 14171R → W.1 Publication
    VAR_046414
    Natural varianti1437 – 14371R → Q.2 Publications
    Corresponds to variant rs56181447 [ dbSNP | Ensembl ].
    VAR_027327
    Natural varianti1496 – 14961Q → H in USH1D. 2 Publications
    VAR_012174
    Natural varianti1507 – 15071R → Q in USH1D. 1 Publication
    VAR_024032
    Natural varianti1520 – 15201I → M.1 Publication
    VAR_046415
    Natural varianti1574 – 15741M → T.1 Publication
    VAR_046416
    Natural varianti1575 – 15751A → T.2 Publications
    Corresponds to variant rs1227051 [ dbSNP | Ensembl ].
    VAR_012175
    Natural varianti1586 – 15861A → P in DFNB12. 1 Publication
    VAR_027328
    Natural varianti1595 – 15951E → K in DFNB12. 1 Publication
    VAR_027329
    Natural varianti1620 – 16201V → M.1 Publication
    Corresponds to variant rs41281330 [ dbSNP | Ensembl ].
    VAR_027330
    Natural varianti1671 – 16711T → S.1 Publication
    VAR_012176
    Natural varianti1675 – 16751V → I.3 Publications
    Corresponds to variant rs17712523 [ dbSNP | Ensembl ].
    VAR_012177
    Natural varianti1711 – 17111V → I.1 Publication
    VAR_046417
    Natural varianti1716 – 17161Q → P in DFNB12. 1 Publication
    VAR_046418
    Natural varianti1746 – 17461R → Q in USH1D; mild retinal affection. 1 Publication
    VAR_012178
    Natural varianti1788 – 17881P → L in USH1D. 1 Publication
    VAR_046419
    Natural varianti1804 – 18041R → Q.2 Publications
    Corresponds to variant rs3802711 [ dbSNP | Ensembl ].
    VAR_012179
    Natural varianti1807 – 18071V → M.1 Publication
    VAR_046420
    Natural varianti1846 – 18461D → N in DFNB12. 1 Publication
    VAR_027331
    Natural varianti1876 – 18761S → N.1 Publication
    VAR_046421
    Natural varianti1887 – 18871T → I.1 Publication
    VAR_027332
    Natural varianti1888 – 18881F → S in DFNB12. 1 Publication
    VAR_027333
    Natural varianti1908 – 19081V → I.1 Publication
    VAR_046422
    Natural varianti1912 – 19121R → W in USH1D. 1 Publication
    VAR_046423
    Natural varianti1930 – 19301D → N in USH1D. 1 Publication
    VAR_046424
    Natural varianti1999 – 19991T → S.3 Publications
    Corresponds to variant rs11592462 [ dbSNP | Ensembl ].
    VAR_012180
    Natural varianti2017 – 20171G → S in USH1D; most likely affects splicing. 2 Publications
    VAR_027334
    Natural varianti2029 – 20291R → W in DFNB12. 1 Publication
    VAR_046425
    Natural varianti2044 – 20441E → K.2 Publications
    Corresponds to variant rs10466026 [ dbSNP | Ensembl ].
    VAR_012181
    Natural varianti2045 – 20451D → N in DFNB12. 1 Publication
    VAR_012182
    Natural varianti2066 – 20661R → Q.1 Publication
    VAR_027335
    Natural varianti2125 – 21251I → M.
    Corresponds to variant rs16929354 [ dbSNP | Ensembl ].
    VAR_046426
    Natural varianti2148 – 21481D → N in DFNB12. 1 Publication
    VAR_027336
    Natural varianti2171 – 21711R → C.1 Publication
    VAR_046427
    Natural varianti2202 – 22021D → N in DFNB12. 1 Publication
    VAR_012183
    Natural varianti2227 – 22271Q → P.1 Publication
    VAR_046428
    Natural varianti2283 – 22831V → I.4 Publications
    Corresponds to variant rs41281334 [ dbSNP | Ensembl ].
    VAR_027337
    Natural varianti2358 – 23581R → Q.3 Publications
    Corresponds to variant rs4747194 [ dbSNP | Ensembl ].
    VAR_012184
    Natural varianti2376 – 23761D → N.
    Corresponds to variant rs9663920 [ dbSNP | Ensembl ].
    VAR_027338
    Natural varianti2376 – 23761D → V in USH1D. 1 Publication
    VAR_046429
    Natural varianti2380 – 23801P → L.4 Publications
    Corresponds to variant rs4747195 [ dbSNP | Ensembl ].
    VAR_012185
    Natural varianti2465 – 24651R → W in DFNB12. 1 Publication
    VAR_027339
    Natural varianti2473 – 24731L → P.1 Publication
    VAR_046430
    Natural varianti2489 – 24891R → H.1 Publication
    VAR_046431
    Natural varianti2517 – 25171S → G in USH1D. 1 Publication
    VAR_027340
    Natural varianti2530 – 25301T → I in USH1D. 1 Publication
    VAR_046432
    Natural varianti2588 – 25881E → Q.3 Publications
    Corresponds to variant rs41281338 [ dbSNP | Ensembl ].
    VAR_012186
    Natural varianti2608 – 26081R → H in DFNB12. 1 Publication
    VAR_027341
    Natural varianti2669 – 26691I → V.1 Publication
    VAR_046433
    Natural varianti2744 – 27441G → S in USH1D; atypical. 1 Publication
    VAR_027342
    Natural varianti2771 – 27711G → S in USH1D. 1 Publication
    VAR_046434
    Natural varianti2801 – 28011F → V.1 Publication
    Corresponds to variant rs3802707 [ dbSNP | Ensembl ].
    VAR_046435
    Natural varianti2833 – 28331R → G in USH1D; atypical. 1 Publication
    VAR_027343
    Natural varianti2853 – 28531A → Q Requires 2 nucleotide substitutions.
    VAR_046436
    Natural varianti2933 – 29331V → E.1 Publication
    VAR_027344
    Natural varianti2950 – 29501I → N in DFNB12. 1 Publication
    VAR_012187
    Natural varianti2954 – 29541D → N.1 Publication
    VAR_027345
    Natural varianti2956 – 29561R → C in DFNB12. 1 Publication
    VAR_012188
    Natural varianti2962 – 29621N → S.1 Publication
    VAR_027346
    Natural varianti2968 – 29681V → A in USH1D. 1 Publication
    VAR_046437
    Natural varianti3059 – 30591P → T in DFNB12. 1 Publication
    VAR_012189
    Natural varianti3125 – 31251F → L.2 Publications
    Corresponds to variant rs45583140 [ dbSNP | Ensembl ].
    VAR_012190
    Natural varianti3175 – 31751R → C.1 Publication
    VAR_046438
    Natural varianti3175 – 31751R → H in USH1D. 1 Publication
    VAR_027347
    Natural varianti3189 – 31891R → W in USH1D and USH1DF. 2 Publications
    VAR_024033
    Natural varianti3245 – 32451S → F in USH1D. 1 Publication
    VAR_024034

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 22402240Missing in isoform 7 and isoform 9. 1 PublicationVSP_044260Add
    BLAST
    Alternative sequencei1 – 2424MGRHV…GCWGQ → MRSWFQQDPMVGACTTGTRA SHPK in isoform 10 and isoform 11. 1 PublicationVSP_047923Add
    BLAST
    Alternative sequencei25 – 31273103Missing in isoform 10 and isoform 11. 1 PublicationVSP_047924Add
    BLAST
    Alternative sequencei143 – 1431E → EVGATG in isoform 8. CuratedVSP_044261
    Alternative sequencei379 – 3802Missing in isoform 2 and isoform 8. CuratedVSP_000645
    Alternative sequencei484 – 53047ATDND…IQRFT → VSPRFTAGPLSSPGPTVVRH PEGFCPRDLSNQGRRHPQIP ELCLLVY in isoform 5. 2 Publications