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Q9H251

- CAD23_HUMAN

UniProt

Q9H251 - CAD23_HUMAN

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Protein

Cadherin-23

Gene

CDH23

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

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
Complete GO annotation...

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-KW
  4. stereocilium Source: HGNC
Complete GO annotation...

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.8 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. 3 Publications
Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
VAR_046404
Natural varianti301 – 3011R → Q in DFNB12. 2 Publications
VAR_046405
Natural varianti342 – 3421N → S in DFNB12. 1 Publication
VAR_071408
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 varianti956 – 9561E → K in DFNB12. 1 Publication
VAR_071413
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 varianti1368 – 13681T → M in DFNB12. 1 Publication
VAR_071418
Natural varianti1417 – 14171R → W in DFNB12. 2 Publications
VAR_046414
Natural varianti1586 – 15861A → P in DFNB12. 1 Publication
VAR_027328
Natural varianti1595 – 15951E → K in DFNB12. 2 Publications
VAR_027329
Natural varianti1626 – 16261D → A in DFNB12. 1 Publication
VAR_071422
Natural varianti1716 – 17161Q → P in DFNB12. 2 Publications
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. 2 Publications
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 varianti2287 – 22871N → K in DFNB12. 1 Publication
VAR_071425
Natural varianti2438 – 24381E → K in DFNB12. 1 Publication
VAR_071426
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 non-syndromic 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

BgeeiQ9H251.
CleanExiHS_CDH23.
ExpressionAtlasiQ9H251. baseline and differential.
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.
GeneTreeiENSGT00750000117767.
HOGENOMiHOG000139588.
HOVERGENiHBG050768.
InParanoidiQ9H251.
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.

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        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)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 varianti160 – 1601D → N.1 Publication
VAR_071407
Natural varianti240 – 2401P → L in DFNB12. 3 Publications
Corresponds to variant rs121908354 [ dbSNP | Ensembl ].
VAR_046404
Natural varianti247 – 2471E → K in USH1D. 1 Publication
VAR_027318
Natural varianti301 – 3011R → Q in DFNB12. 2 Publications
VAR_046405
Natural varianti342 – 3421N → S in DFNB12. 1 Publication
VAR_071408
Natural varianti361 – 3611A → S.1 Publication
VAR_071409
Natural varianti366 – 3661A → T in USH1D. 2 Publications
Corresponds to variant rs143282422 [ dbSNP | Ensembl ].
VAR_024030
Natural varianti424 – 4241V → M.1 Publication
VAR_071410
Natural varianti428 – 4281D → N.1 Publication
VAR_071411
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.4 Publications
Corresponds to variant rs1227049 [ dbSNP | Ensembl ].
VAR_012167
Natural varianti496 – 4961S → N.5 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 varianti803 – 8031V → I.1 Publication
VAR_071412
Natural varianti944 – 9441S → G.1 Publication
VAR_046408
Natural varianti956 – 9561E → K in DFNB12. 1 Publication
VAR_071413
Natural varianti960 – 9601E → K.1 Publication
VAR_046409
Natural varianti964 – 9641R → Q.1 Publication
VAR_071414
Natural varianti990 – 9901D → N in DFNB12. 1 Publication
VAR_012169
Natural varianti1010 – 10101R → H.1 Publication
VAR_071415
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 varianti1118 – 11181G → S.1 Publication
VAR_071416
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 varianti1335 – 13351V → A.1 Publication
VAR_071417
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.4 Publications
Corresponds to variant rs1227065 [ dbSNP | Ensembl ].
VAR_012173
Natural varianti1368 – 13681T → M in DFNB12. 1 Publication
VAR_071418
Natural varianti1415 – 14151S → I.1 Publication
VAR_071419
Natural varianti1417 – 14171R → W in DFNB12. 2 Publications
VAR_046414
Natural varianti1437 – 14371R → Q.3 Publications
Corresponds to variant rs56181447 [ dbSNP | Ensembl ].
VAR_027327
Natural varianti1443 – 14431A → G.1 Publication
VAR_071420
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.3 Publications
Corresponds to variant rs1227051 [ dbSNP | Ensembl ].
VAR_012175
Natural varianti1586 – 15861A → P in DFNB12. 1 Publication
VAR_027328
Natural varianti1588 – 15881R → W.2 Publications
VAR_071421
Natural varianti1595 – 15951E → K in DFNB12. 2 Publications
VAR_027329
Natural varianti1620 – 16201V → M.1 Publication
Corresponds to variant rs41281330 [ dbSNP | Ensembl ].
VAR_027330
Natural varianti1626 – 16261D → A in DFNB12. 1 Publication
VAR_071422
Natural varianti1671 – 16711T → S.1 Publication
VAR_012176
Natural varianti1675 – 16751V → I.4 Publications
Corresponds to variant rs17712523 [ dbSNP | Ensembl ].
VAR_012177
Natural varianti1711 – 17111V → I.2 Publications
VAR_046417
Natural varianti1716 – 17161Q → P in DFNB12. 2 Publications
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.3 Publications
Corresponds to variant rs3802711 [ dbSNP | Ensembl ].
VAR_012179
Natural varianti1806 – 18061D → E.1 Publication
VAR_071423
Natural varianti1807 – 18071V → M.2 Publications
VAR_046420
Natural varianti1846 – 18461D → N in DFNB12. 1 Publication
VAR_027331
Natural varianti1876 – 18761S → N.2 Publications
VAR_046421
Natural varianti1887 – 18871T → I.1 Publication
VAR_027332
Natural varianti1888 – 18881F → S in DFNB12. 1 Publication
VAR_027333
Natural varianti1908 – 19081V → I.2 Publications
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.4 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. 2 Publications
VAR_046425
Natural varianti2044 – 20441E → K.3 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 varianti2130 – 21301A → V.1 Publication
VAR_071424
Natural varianti2148 – 21481D → N in DFNB12. 1 Publication
VAR_027336
Natural varianti2171 – 21711R → C.2 Publications
VAR_046427
Natural varianti2202 – 22021D → N in DFNB12. 1 Publication
VAR_012183
Natural varianti2227 – 22271Q → P.2 Publications
VAR_046428
Natural varianti2283 – 22831V → I.5 Publications
Corresponds to variant rs41281334 [ dbSNP | Ensembl ].
VAR_027337
Natural varianti2287 – 22871N → K in DFNB12. 1 Publication
VAR_071425
Natural varianti2358 – 23581R → Q.4 Publications