Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Cadherin-23

Gene

CDH23

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: UniProtKB
  • calcium ion transport Source: DFLAT
  • equilibrioception Source: HGNC
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • inner ear receptor stereocilium organization Source: InterPro
  • locomotory behavior Source: InterPro
  • photoreceptor cell maintenance Source: HGNC
  • regulation of cytosolic calcium ion concentration Source: DFLAT
  • response to stimulus Source: UniProtKB-KW
  • sensory perception of light stimulus Source: HGNC
  • sensory perception of sound Source: HGNC
  • visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Hearing, Sensory transduction, Vision

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107736-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:13733. CDH23.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 3064ExtracellularSequence analysisAdd BLAST3041
Transmembranei3065 – 3085HelicalSequence analysisAdd BLAST21
Topological domaini3086 – 3354CytoplasmicSequence analysisAdd BLAST269

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB-SubCell
  • stereocilium Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1D (USH1D)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH 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.
See also OMIM:601067
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027318247E → K in USH1D. 1 Publication1
Natural variantiVAR_024030366A → T in USH1D. 2 PublicationsCorresponds to variant rs143282422dbSNPEnsembl.1
Natural variantiVAR_027321484A → P in USH1D. 1 Publication1
Natural variantiVAR_046407755H → Y in USH1D. 1 Publication1
Natural variantiVAR_0464101090V → I in USH1D. 1 Publication1
Natural variantiVAR_0464111098N → S in USH1D. 1 PublicationCorresponds to variant rs41281310dbSNPEnsembl.1
Natural variantiVAR_0273251206P → R in USH1D. 1 Publication1
Natural variantiVAR_0240311209T → A in USH1D. 2 PublicationsCorresponds to variant rs41281314dbSNPEnsembl.1
Natural variantiVAR_0121711281Missing in USH1D. 1 Publication1
Natural variantiVAR_0121741496Q → H in USH1D. 2 Publications1
Natural variantiVAR_0240321507R → Q in USH1D. 1 Publication1
Natural variantiVAR_0121781746R → Q in USH1D; mild retinal affection. 1 Publication1
Natural variantiVAR_0464191788P → L in USH1D. 1 Publication1
Natural variantiVAR_0464231912R → W in USH1D. 1 Publication1
Natural variantiVAR_0464241930D → N in USH1D. 1 Publication1
Natural variantiVAR_0273342017G → S in USH1D; most likely affects splicing. 2 Publications1
Natural variantiVAR_0464292376D → V in USH1D. 1 Publication1
Natural variantiVAR_0273402517S → G in USH1D. 1 Publication1
Natural variantiVAR_0464322530T → I in USH1D. 1 Publication1
Natural variantiVAR_0273422744G → S in USH1D; atypical. 1 Publication1
Natural variantiVAR_0464342771G → S in USH1D. 1 Publication1
Natural variantiVAR_0273432833R → G in USH1D; atypical. 1 Publication1
Natural variantiVAR_0464372968V → A in USH1D. 1 Publication1
Natural variantiVAR_0273473175R → H in USH1D. 1 Publication1
Natural variantiVAR_0240333189R → W in USH1D and USH1DF. 2 Publications1
Natural variantiVAR_0240343245S → F in USH1D. 1 Publication1
Usher syndrome 1D/F (USH1DF)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionUSH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
See also OMIM:601067
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0240333189R → W in USH1D and USH1DF. 2 Publications1
Deafness, autosomal recessive, 12 (DFNB12)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601386
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027317124D → G in DFNB12. 1 Publication1
Natural variantiVAR_046404240P → L in DFNB12. 3 PublicationsCorresponds to variant rs121908354dbSNPEnsembl.1
Natural variantiVAR_046405301R → Q in DFNB12. 2 Publications1
Natural variantiVAR_071408342N → S in DFNB12. 1 Publication1
Natural variantiVAR_027319452N → S in DFNB12. 1 Publication1
Natural variantiVAR_027320480L → Q in DFNB12. 1 Publication1
Natural variantiVAR_027322582R → Q in DFNB12. 1 Publication1
Natural variantiVAR_071413956E → K in DFNB12. 1 Publication1
Natural variantiVAR_012169990D → N in DFNB12. 1 Publication1
Natural variantiVAR_0273231060R → W in DFNB12. 2 Publications1
Natural variantiVAR_0273241186G → D in DFNB12. 1 Publication1
Natural variantiVAR_0273261341D → N in DFNB12. 1 Publication1
Natural variantiVAR_0714181368T → M in DFNB12. 1 Publication1
Natural variantiVAR_0464141417R → W in DFNB12. 2 Publications1
Natural variantiVAR_0273281586A → P in DFNB12. 1 Publication1
Natural variantiVAR_0273291595E → K in DFNB12. 2 Publications1
Natural variantiVAR_0714221626D → A in DFNB12. 1 Publication1
Natural variantiVAR_0464181716Q → P in DFNB12. 2 Publications1
Natural variantiVAR_0273311846D → N in DFNB12. 1 Publication1
Natural variantiVAR_0273331888F → S in DFNB12. 1 Publication1
Natural variantiVAR_0464252029R → W in DFNB12. 2 Publications1
Natural variantiVAR_0121822045D → N in DFNB12. 1 Publication1
Natural variantiVAR_0273362148D → N in DFNB12. 1 Publication1
Natural variantiVAR_0121832202D → N in DFNB12. 1 Publication1
Natural variantiVAR_0714252287N → K in DFNB12. 1 Publication1
Natural variantiVAR_0714262438E → K in DFNB12. 1 Publication1
Natural variantiVAR_0273392465R → W in DFNB12. 1 Publication1
Natural variantiVAR_0273412608R → H in DFNB12. 1 Publication1
Natural variantiVAR_0121872950I → N in DFNB12. 1 Publication1
Natural variantiVAR_0121882956R → C in DFNB12. 1 Publication1
Natural variantiVAR_0121893059P → T in DFNB12. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi64072.
MalaCardsiCDH23.
MIMi276900. phenotype.
601067. phenotype.
601386. phenotype.
OpenTargetsiENSG00000107736.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA26296.

Polymorphism and mutation databases

BioMutaiCDH23.
DMDMi408359994.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000000382424 – 3354Cadherin-23Add BLAST3331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi155N-linked (GlcNAc...)Sequence analysis1
Glycosylationi206N-linked (GlcNAc...)Sequence analysis1
Glycosylationi349N-linked (GlcNAc...)Sequence analysis1
Glycosylationi393N-linked (GlcNAc...)Sequence analysis1
Glycosylationi434N-linked (GlcNAc...)Sequence analysis1
Glycosylationi466N-linked (GlcNAc...)Sequence analysis1
Glycosylationi472N-linked (GlcNAc...)Sequence analysis1
Glycosylationi652N-linked (GlcNAc...)Sequence analysis1
Glycosylationi694N-linked (GlcNAc...)Sequence analysis1
Glycosylationi765N-linked (GlcNAc...)Sequence analysis1
Glycosylationi810N-linked (GlcNAc...)Sequence analysis1
Glycosylationi827N-linked (GlcNAc...)Sequence analysis1
Glycosylationi941N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1001N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1018N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1171N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1282N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1315N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1473N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1534N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1651N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1667N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1818N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1857N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1889N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1902N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2013N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2050N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2129N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2168N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2195N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2263N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2357N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2369N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2616N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2749N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2808N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2877N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2896N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2941N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2981N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H251.
PeptideAtlasiQ9H251.
PRIDEiQ9H251.

PTM databases

iPTMnetiQ9H251.
PhosphoSitePlusiQ9H251.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000107736.
CleanExiHS_CDH23.
ExpressionAtlasiQ9H251. baseline and differential.
GenevisibleiQ9H251. HS.

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. 5 interactors.
DIPiDIP-48786N.
IntActiQ9H251. 8 interactors.
MINTiMINT-4830802.
STRINGi9606.ENSP00000381768.

Structurei

Secondary structure

13354
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3187 – 3198Combined sources12
Helixi3214 – 3226Combined sources13
Beta strandi3351 – 3353Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KBRNMR-B3183-3200[»]
2KBSNMR-B3347-3354[»]
2LSRNMR-B3212-3227[»]
ProteinModelPortaliQ9H251.
SMRiQ9H251.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H251.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 132Cadherin 1PROSITE-ProRule annotationAdd BLAST99
Domaini133 – 236Cadherin 2PROSITE-ProRule annotationAdd BLAST104
Domaini237 – 348Cadherin 3PROSITE-ProRule annotationAdd BLAST112
Domaini349 – 460Cadherin 4PROSITE-ProRule annotationAdd BLAST112
Domaini461 – 561Cadherin 5PROSITE-ProRule annotationAdd BLAST101
Domaini562 – 671Cadherin 6PROSITE-ProRule annotationAdd BLAST110
Domaini672 – 784Cadherin 7PROSITE-ProRule annotationAdd BLAST113
Domaini779 – 890Cadherin 8PROSITE-ProRule annotationAdd BLAST112
Domaini891 – 995Cadherin 9PROSITE-ProRule annotationAdd BLAST105
Domaini996 – 1102Cadherin 10PROSITE-ProRule annotationAdd BLAST107
Domaini1103 – 1208Cadherin 11PROSITE-ProRule annotationAdd BLAST106
Domaini1210 – 1313Cadherin 12PROSITE-ProRule annotationAdd BLAST104
Domaini1314 – 1418Cadherin 13PROSITE-ProRule annotationAdd BLAST105
Domaini1420 – 1527Cadherin 14PROSITE-ProRule annotationAdd BLAST108
Domaini1529 – 1634Cadherin 15PROSITE-ProRule annotationAdd BLAST106
Domaini1635 – 1744Cadherin 16PROSITE-ProRule annotationAdd BLAST110
Domaini1745 – 1851Cadherin 17PROSITE-ProRule annotationAdd BLAST107
Domaini1852 – 1959Cadherin 18PROSITE-ProRule annotationAdd BLAST108
Domaini1960 – 2069Cadherin 19PROSITE-ProRule annotationAdd BLAST110
Domaini2070 – 2174Cadherin 20PROSITE-ProRule annotationAdd BLAST105
Domaini2175 – 2293Cadherin 21PROSITE-ProRule annotationAdd BLAST119
Domaini2297 – 2402Cadherin 22PROSITE-ProRule annotationAdd BLAST106
Domaini2403 – 2509Cadherin 23PROSITE-ProRule annotationAdd BLAST107
Domaini2510 – 2611Cadherin 24PROSITE-ProRule annotationAdd BLAST102
Domaini2614 – 2722Cadherin 25PROSITE-ProRule annotationAdd BLAST109
Domaini2729 – 2846Cadherin 26PROSITE-ProRule annotationAdd BLAST118
Domaini2847 – 2975Cadherin 27PROSITE-ProRule annotationAdd BLAST129

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

eggNOGiKOG1219. Eukaryota.
ENOG410XPEI. LUCA.
GeneTreeiENSGT00760000118805.
HOGENOMiHOG000139588.
HOVERGENiHBG050768.
InParanoidiQ9H251.
KOiK06813.
TreeFamiTF320624.

Family and domain databases

Gene3Di2.60.40.60. 27 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR033030. CDH23.
[Graphical view]
PANTHERiPTHR24027:SF277. PTHR24027:SF277. 5 hits.
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. AlignAdd to basket

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

        10         20         30         40         50
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS
60 70 80 90 100
SVTQLLAQDM DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE
110 120 130 140 150
FTVEFSVSDH QGVITRKVNI QVGDVNDNAP TFHNQPYSVR IPENTPVGTP
160 170 180 190 200
IFIVNATDPD LGAGGSVLYS FQPPSQFFAI DSARGIVTVI RELDYETTQA
210 220 230 240 250
YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP YSTNIYEHSP
260 270 280 290 300
PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD
310 320 330 340 350
RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS
360 370 380 390 400
SEYSVAITEL AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII
410 420 430 440 450
SPTSVQGKAD IRIRVAIPLD YETVDRYDFD LFANESVPDH VGYAKVKITL
460 470 480 490 500
INENDNRPIF SQPLYNISLY ENVTVGTSVL TVLATDNDAG TFGEVSYFFS
510 520 530 540 550
DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG EETTGRVRIN
560 570 580 590 600
VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI
610 620 630 640 650
VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP
660 670 680 690 700
LNSTVPVTIE VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR
710 720 730 740 750
SREYGQESII YSLEGSTQFR INARSGEITT TSLLDRETKS EYILIVRAVD
760 770 780 790 800
GGVGHNQKTG IATVNITLLD INDNHPTWKD APYYINLVEM TPPDSDVTTV
810 820 830 840 850
VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML DRENPDPHEA
860 870 880 890 900
ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL
910 920 930 940 950
EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT
960 970 980 990 1000
TELDRERIAE YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY
1010 1020 1030 1040 1050
NVSVSEDVPR EFRVVWLNCT DNDVGLNAEL SYFITGGNVD GKFSVGYRDA
1060 1070 1080 1090 1100
VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK RHTGTATVFV TVLDVNDNRP
1110 1120 1130 1140 1150
IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR ILHGNHGNNF
1160 1170 1180 1190 1200
RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED
1210 1220 1230 1240 1250
INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS
1260 1270 1280 1290 1300
GAEGKFEIDE STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY
1310 1320 1330 1340 1350
ITLLNELDEA VQFSNASYEA AILENLALGT EIVRVQAYSI DNLNQITYRF
1360 1370 1380 1390 1400
NAYTSTQAKA LFKIDAITGV ITVQGLVDRE KGDFYTLTVV ADDGGPKVDS
1410 1420 1430 1440 1450
TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT VKAWDPDAGS
1460 1470 1480 1490 1500
NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS
1510 1520 1530 1540 1550
DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV
1560 1570 1580 1590 1600
RATDRDIGIN SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY
1610 1620 1630 1640 1650
HLVATVEDEG TPTLSATTHV YVTIVDENDN APMFQQPHYE VLLDEGPDTL
1660 1670 1680 1690 1700
NTSLITIQAL DLDEGPNGTV TYAIVAGNIV NTFRIDRHMG VITAAKELDY
1710 1720 1730 1740 1750
EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN VPTFPRDYEG
1760 1770 1780 1790 1800
PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV
1810 1820 1830 1840 1850
LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV
1860 1870 1880 1890 1900
LLNLPMNITI SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF
1910 1920 1930 1940 1950
INATTGIVTV NRPLDRERIP EYKLTISVKD NPENPRIARR DYDLLLIFLS
1960 1970 1980 1990 2000
DENDNHPLFT KSTYQAEVME NSPAGTPLTV LNGPILALDA DQDIYAVVTY
2010 2020 2030 2040 2050
QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL LLAEDIGLLN
2060 2070 2080 2090 2100
STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL
2110 2120 2130 2140 2150
NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG
2160 2170 2180 2190 2200
TVPLSGTAIV TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID
2210 2220 2230 2240 2250
HDLNPKLEYH IVGIVAKDDT DRLVPNQEDA FAVNINTGSV MVKSPMNREL
2260 2270 2280 2290 2300
VATYEVTLSV IDNASDLPER SVSVPNAKLT VNVLDVNDNT PQFKPFGITY
2310 2320 2330 2340 2350
YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP PGYVQLEDSS
2360 2370 2380 2390 2400
AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP
2410 2420 2430 2440 2450
IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI
2460 2470 2480 2490 2500
NPTTGDIYVL SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL
2510 2520 2530 2540 2550
DVNDCRPQFS KPQFSTSVYE NEPAGTSVIT MMATDQDEGP NGELTYSLEG
2560 2570 2580 2590 2600
PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT VVATDGGEPP LWGTTMLLVE
2610 2620 2630 2640 2650
VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK DEGLNGAVRY
2660 2670 2680 2690 2700
SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV
2710 2720 2730 2740 2750
PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV
2760 2770 2780 2790 2800
TGAVDADEGP NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS
2810 2820 2830 2840 2850
FIVKASSNRS WTPPRGPSPT LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE
2860 2870 2880 2890 2900
YTAGVATDAK VGSELIQVLA LDADIGNNSL VFYSILAIHY FRALANDSED
2910 2920 2930 2940 2950
VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH NDTAIIGIYI
2960 2970 2980 2990 3000
LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG
3010 3020 3030 3040 3050
RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV
3060 3070 3080 3090 3100
QPAISVRLPD DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA
3110 3120 3130 3140 3150
IVAGSAGNRG FIDIMDMPNT NKYSFDGANP VWLDPFCRNL ELAAQAEHED
3160 3170 3180 3190 3200
DLPENLSEIA DLWNSPTRTH GTFGREPAAV KPDDDRYLRA AIQEYDNIAK
3210 3220 3230 3240 3250
LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC HSSISELIQT
3260 3270 3280 3290 3300
ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL
3310 3320 3330 3340 3350
PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE

ITEL
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)DescriptionActionsGraphical viewLength
Sequence conflicti985V → L in AAG27034 (PubMed:11090341).Curated1
Sequence conflicti1403K → V in AAG27034 (PubMed:11090341).Curated1
Sequence conflicti2173 – 2236EFLNP…AVNIN → ASWEGQSHVTQAYEEAVGPP QPQVPDSTGDRHPLWGLGGF GQEHPWEGQILGGSSQAEPG LVWS in BAB61902 (PubMed:11597768).CuratedAdd BLAST64

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0121663R → C.3 PublicationsCorresponds to variant rs7902757dbSNPEnsembl.1
Natural variantiVAR_027317124D → G in DFNB12. 1 Publication1
Natural variantiVAR_071407160D → N.1 Publication1
Natural variantiVAR_072661192E → Q.1 Publication1
Natural variantiVAR_046404240P → L in DFNB12. 3 PublicationsCorresponds to variant rs121908354dbSNPEnsembl.1
Natural variantiVAR_027318247E → K in USH1D. 1 Publication1
Natural variantiVAR_046405301R → Q in DFNB12. 2 Publications1
Natural variantiVAR_071408342N → S in DFNB12. 1 Publication1
Natural variantiVAR_071409361A → S.1 Publication1
Natural variantiVAR_024030366A → T in USH1D. 2 PublicationsCorresponds to variant rs143282422dbSNPEnsembl.1
Natural variantiVAR_071410424V → M.1 Publication1
Natural variantiVAR_071411428D → N.1 Publication1
Natural variantiVAR_027319452N → S in DFNB12. 1 Publication1
Natural variantiVAR_027320480L → Q in DFNB12. 1 Publication1
Natural variantiVAR_027321484A → P in USH1D. 1 Publication1
Natural variantiVAR_012167490G → A.4 PublicationsCorresponds to variant rs1227049dbSNPEnsembl.1
Natural variantiVAR_012168496S → N.5 PublicationsCorresponds to variant rs10999947dbSNPEnsembl.1
Natural variantiVAR_027322582R → Q in DFNB12. 1 Publication1
Natural variantiVAR_046406746V → I.1 Publication1
Natural variantiVAR_046407755H → Y in USH1D. 1 Publication1
Natural variantiVAR_071412803V → I.1 Publication1
Natural variantiVAR_046408944S → G.1 Publication1
Natural variantiVAR_071413956E → K in DFNB12. 1 Publication1
Natural variantiVAR_046409960E → K.1 Publication1
Natural variantiVAR_071414964R → Q.1 Publication1
Natural variantiVAR_012169990D → N in DFNB12. 1 Publication1
Natural variantiVAR_0714151010R → H.1 Publication1
Natural variantiVAR_0273231060R → W in DFNB12. 2 Publications1
Natural variantiVAR_0464101090V → I in USH1D. 1 Publication1
Natural variantiVAR_0464111098N → S in USH1D. 1 PublicationCorresponds to variant rs41281310dbSNPEnsembl.1
Natural variantiVAR_0714161118G → S.1 Publication1
Natural variantiVAR_0273241186G → D in DFNB12. 1 Publication1
Natural variantiVAR_0273251206P → R in USH1D. 1 Publication1
Natural variantiVAR_0240311209T → A in USH1D. 2 PublicationsCorresponds to variant rs41281314dbSNPEnsembl.1
Natural variantiVAR_0121701222A → T.3 PublicationsCorresponds to variant rs41281316dbSNPEnsembl.1
Natural variantiVAR_0464121236R → Q.1 Publication1
Natural variantiVAR_0121711281Missing in USH1D. 1 Publication1
Natural variantiVAR_0464131282N → S.1 Publication1
Natural variantiVAR_0714171335V → A.1 Publication1
Natural variantiVAR_0273261341D → N in DFNB12. 1 Publication1
Natural variantiVAR_0121721349R → C.2 PublicationsCorresponds to variant rs41281318dbSNPEnsembl.1
Natural variantiVAR_0121731351N → D.4 PublicationsCorresponds to variant rs1227065dbSNPEnsembl.1
Natural variantiVAR_0714181368T → M in DFNB12. 1 Publication1
Natural variantiVAR_0714191415S → I.1 Publication1
Natural variantiVAR_0464141417R → W in DFNB12. 2 Publications1
Natural variantiVAR_0273271437R → Q.3 PublicationsCorresponds to variant rs56181447dbSNPEnsembl.1
Natural variantiVAR_0714201443A → G.1 Publication1
Natural variantiVAR_0121741496Q → H in USH1D. 2 Publications1
Natural variantiVAR_0240321507R → Q in USH1D. 1 Publication1
Natural variantiVAR_0464151520I → M.1 Publication1
Natural variantiVAR_0464161574M → T.1 Publication1
Natural variantiVAR_0121751575A → T.3 PublicationsCorresponds to variant rs1227051dbSNPEnsembl.1
Natural variantiVAR_0273281586A → P in DFNB12. 1 Publication1
Natural variantiVAR_0714211588R → W.2 Publications1
Natural variantiVAR_0273291595E → K in DFNB12. 2 Publications1
Natural variantiVAR_0273301620V → M.1 PublicationCorresponds to variant rs41281330dbSNPEnsembl.1
Natural variantiVAR_0714221626D → A in DFNB12. 1 Publication1
Natural variantiVAR_0121761671T → S.1 Publication1
Natural variantiVAR_0121771675V → I.4 PublicationsCorresponds to variant rs17712523dbSNPEnsembl.1
Natural variantiVAR_0464171711V → I.2 Publications1
Natural variantiVAR_0464181716Q → P in DFNB12. 2 Publications1
Natural variantiVAR_0121781746R → Q in USH1D; mild retinal affection. 1 Publication1
Natural variantiVAR_0464191788P → L in USH1D. 1 Publication1
Natural variantiVAR_0121791804R → Q.3 PublicationsCorresponds to variant rs3802711dbSNPEnsembl.1
Natural variantiVAR_0714231806D → E.1 Publication1
Natural variantiVAR_0464201807V → M.2 Publications1
Natural variantiVAR_0273311846D → N in DFNB12. 1 Publication1
Natural variantiVAR_0464211876S → N.2 Publications1
Natural variantiVAR_0273321887T → I.1 Publication1
Natural variantiVAR_0273331888F → S in DFNB12. 1 Publication1
Natural variantiVAR_0464221908V → I.2 Publications1
Natural variantiVAR_0464231912R → W in USH1D. 1 Publication1
Natural variantiVAR_0464241930D → N in USH1D. 1 Publication1
Natural variantiVAR_0121801999T → S.4 PublicationsCorresponds to variant rs11592462dbSNPEnsembl.1
Natural variantiVAR_0273342017G → S in USH1D; most likely affects splicing. 2 Publications1
Natural variantiVAR_0464252029R → W in DFNB12. 2 Publications1
Natural variantiVAR_0121812044E → K.3 PublicationsCorresponds to variant rs10466026dbSNPEnsembl.1
Natural variantiVAR_0121822045D → N in DFNB12. 1 Publication1
Natural variantiVAR_0273352066R → Q.1 Publication1
Natural variantiVAR_0464262125I → M.Corresponds to variant rs16929354dbSNPEnsembl.1
Natural variantiVAR_0714242130A → V.1 Publication1
Natural variantiVAR_0273362148D → N in DFNB12. 1 Publication1
Natural variantiVAR_0464272171R → C.2 Publications1
Natural variantiVAR_0121832202D → N in DFNB12. 1 Publication1
Natural variantiVAR_0464282227Q → P.2 Publications1
Natural variantiVAR_0273372283V → I.5 PublicationsCorresponds to variant rs41281334dbSNPEnsembl.1
Natural variantiVAR_0714252287N → K in DFNB12. 1 Publication