• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005709 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

RefSeq Version NM_005709.3, 225690577
Length 2237 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.
Product harmonin isoform a
Comment

Summary: This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].


Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant b3, one of which results in a translational frameshift. The resulting protein (isoform a) has a distinct C-terminus and is shorter than isoform 1.


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_005700.2
CDS 110..1768
Misc Feature(1)110..367
Misc Feature(2)110..367
Misc Feature(3)113..349
Misc Feature(4)order(116..118,122..127,134..139,176..181,188..190,
Misc Feature(5)362..604
Misc Feature(6)order(398..409,413..415,557..562,569..574)
Misc Feature(7)734..958
Misc Feature(8)order(770..781,785..787,929..934,941..946)
Misc Feature(9)1460..1723
Misc Feature(10)order(1496..1507,1511..1513,1661..1666,1673..1678)
Exon (1)1..145
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (2)146..213
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (3)214..357
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (4)358..496
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (5)497..605
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (6)606..630
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (7)631..688
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (8)689..783
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (9)784..868
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (10)869..928
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (11)929..985
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (12)986..1128
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (13)1129..1194
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (14)1195..1319
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (15)1320..1393
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (16)1394..1435
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (17)1436..1489
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (18)1490..1589
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (19)1590..1699
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (20)1700..1755
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Exon (21)1756..2237
Gene:USH1C
Gene Synonym:AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Translation MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFD AIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKG GQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPL TWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTD RERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEM EQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDG GTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVV VSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVC PPKEYDDELTFF
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(16)-dbSNP:
complement(16)-t, adbSNP:150649483
complement(111..112)-, ttdbSNP:10701806
complement(170)-dbSNP:
complement(170)-c, adbSNP:181215175
complement(191)-t, cdbSNP:143192514
complement(200)-t, cdbSNP:121908370
complement(210)-t, cdbSNP:75157409
complement(223)-dbSNP:
complement(223)-g, adbSNP:137962152
complement(236)-t, cdbSNP:145500807
complement(244)-t, gdbSNP:140319839
complement(254)-g, cdbSNP:146817459
complement(269)-t, gdbSNP:199749712
complement(272)-g, adbSNP:117171411
complement(281)-g, adbSNP:200525985
complement(295)-g, adbSNP:200239508
complement(306)-c, adbSNP:145040342
complement(313)-c, adbSNP:140945339
complement(325)-t, cdbSNP:151045328
complement(334)-t, cdbSNP:111033279
complement(348)-t, cdbSNP:148597739
complement(384)-dbSNP:
complement(384)-t, cdbSNP:147954324
complement(403)-t, cdbSNP:34055234
complement(469)-g, adbSNP:140869579
complement(471)-c, adbSNP:147383732
complement(490)-c, adbSNP:41282942
complement(497)-dbSNP:
complement(497)-t, cdbSNP:55843567
complement(505)-g, adbSNP:150522757
complement(512)-t, cdbSNP:145013633
complement(517)-g, cdbSNP:200335331
complement(573)-g, cdbSNP:142730611
complement(589)-t, cdbSNP:201812681
complement(622)-dbSNP:
complement(622)-g, adbSNP:199739341
complement(649)-dbSNP:
complement(649)-g, adbSNP:145510974
complement(660)-t, cdbSNP:113015650
complement(678)-g, adbSNP:200319849
complement(701)-dbSNP:
complement(701)-t, adbSNP:141771249
complement(713)-g, adbSNP:145568338
complement(757)-t, cdbSNP:77137413
complement(760)-t, cdbSNP:75977878
complement(778)-t, gdbSNP:144761543
complement(793)-dbSNP:
complement(793)-g, adbSNP:149172005
complement(795)-t, cdbSNP:200523032
complement(854)-g, cdbSNP:181762689
complement(899)-dbSNP:
complement(899)-t, cdbSNP:79875849
complement(902)-t, cdbSNP:199537187
complement(950)-dbSNP:
complement(950)-t, gdbSNP:112891356
complement(953)-g, adbSNP:145245642
complement(984)-g, cdbSNP:200322793
complement(992)-dbSNP:
complement(992)-t, cdbSNP:200127622
complement(1055)-g, cdbSNP:35336155
complement(1069)-g, cdbSNP:41282934
complement(1074)-t, cdbSNP:140424216
complement(1124)-g, adbSNP:200837155
complement(1149)-dbSNP:
complement(1149)-t, cdbSNP:144896074
complement(1178)-g, adbSNP:140934960
complement(1195)-dbSNP:
complement(1195)-t, cdbSNP:147727890
complement(1245)-t, cdbSNP:202174251
complement(1297)-t, g, c, adbSNP:2240487
complement(1324)-dbSNP:
complement(1324)-c, adbSNP:148649303
complement(1329)-t, g, cdbSNP:143923730
complement(1352)-t, cdbSNP:116996553
complement(1370)-t, cdbSNP:115931035
complement(1375)-g, adbSNP:35188020
complement(1403)-dbSNP:
complement(1403)-t, cdbSNP:148168494
complement(1434)-g, adbSNP:200182990
complement(1449)-dbSNP:
complement(1449)-t, cdbSNP:201600193
complement(1469)-g, adbSNP:143803480
complement(1474)-g, adbSNP:151251262
complement(1481)-t, adbSNP:145832659
complement(1488)-t, cdbSNP:143778195
complement(1497)-dbSNP:
complement(1497)-g, adbSNP:140313023
complement(1549)-g, adbSNP:10832796
complement(1556)-t, gdbSNP:34077456
complement(1571)-t, cdbSNP:199729381
complement(1583)-g, adbSNP:200428926
complement(1609)-dbSNP:
complement(1609)-g, adbSNP:139787873
complement(1619)-t, cdbSNP:150593932
complement(1628)-t, cdbSNP:142652588
complement(1652)-g, adbSNP:148477093
complement(1666)-g, cdbSNP:1064074
complement(1696)-g, adbSNP:142801489
complement(1697)-t, cdbSNP:142751309
complement(1708)-dbSNP:
complement(1708)-t, cdbSNP:34581703
complement(1709)-t, cdbSNP:201644053
complement(1747)-g, adbSNP:143860238
complement(1748)-t, cdbSNP:138123405
complement(1796)-dbSNP:
complement(1796)-c, adbSNP:148376296
complement(1842)-g, adbSNP:16934270
complement(1846)-t, cdbSNP:1055574
complement(1870)-g, adbSNP:184722933
complement(1910)-g, cdbSNP:75815445
complement(1985)-t, gdbSNP:147350505
complement(1986)-t, cdbSNP:1055577
complement(2011)-g, adbSNP:1055581
complement(2058)-t, cdbSNP:192348078
complement(2072)-t, cdbSNP:199935553
complement(2124..2125)-, cdbSNP:36088380
complement(2205)-g, cdbSNP:11827649
complement(2217..2218)-, gtttdbSNP:35637435
complement(2218..2219)-, gtttdbSNP:201364535
complement(2218..2219)-, gttt, tgttdbSNP:10626485
complement(2218)-g, adbSNP:112987049
complement(2219..2220)-, tgttdbSNP:10649542
complement(2220)-t, cdbSNP:149832912
complement(2221..2222)-, gttt, tctgdbSNP:148040278
complement(2222)-g, adbSNP:139789806
complement(2223)-t, adbSNP:149306223
complement(2224)-c, adbSNP:200545361
Gene SymbolUSH1C
Gene SynonymAIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
Chromosome11
Locus Map11p14.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005709 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. On-demand $699.00 18
NM_153676 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant b3, mRNA. On-demand $899.00 20
Title Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia .
Author Wu,L., Pan,L., Zhang,C. and Zhang,M.
Journal J. Biol. Chem. 287 (40), 33460-33471 (2012)
Title Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination .
Author Overlack,N., Goldmann,T., Wolfrum,U. and Nagel-Wolfrum,K.
Journal Invest. Ophthalmol. Vis. Sci. 53 (7), 4140-4146 (2012)
Title Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss .
Author Saihan,Z., Stabej Ple,Q., Robson,A.G., Rangesh,N., Holder,G.E., Moore,A.T., Steel,K.P., Luxon,L.M., Bitner-Glindzicz,M. and Webster,A.R.
Journal Retina (Philadelphia, Pa.) 31 (8), 1708-1716 (2011)
Title Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1 .
Author Rizel,L., Safieh,C., Shalev,S.A., Mezer,E., Jabaly-Habib,H., Ben-Neriah,Z., Chervinsky,E., Briscoe,D. and Ben-Yosef,T.
Journal Mol. Vis. 17, 3548-3555 (2011)
Title Novel mutations in the USH1C gene in Usher syndrome patients .
Author Aparisi,M.J., Garcia-Garcia,G., Jaijo,T., Rodrigo,R., Graziano,C., Seri,M., Simsek,T., Simsek,E., Bernal,S., Baiget,M., Perez-Garrigues,H., Aller,E. and Millan,J.M.
Journal Mol. Vis. 16, 2948-2954 (2010)
Title UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes .
Author Baux,D., Faugere,V., Larrieu,L., Le Guedard-Mereuze,S., Hamroun,D., Beroud,C., Malcolm,S., Claustres,M. and Roux,A.F.
Journal Hum. Mutat. 29 (8), E76-E87 (2008)
Title Isoforms of the human PDZ-73 protein exhibit differential tissue expression .
Author Scanlan,M.J., Williamson,B., Jungbluth,A., Stockert,E., Arden,K.C., Viars,C.S., Gure,A.O., Gordan,J.D., Chen,Y.T. and Old,L.J.
Journal Biochim. Biophys. Acta 1445 (1), 39-52 (1999)
Title The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region .
Author Saouda,M., Mansour,A., Bou Moglabey,Y., El Zir,E., Mustapha,M., Chaib,H., Nehme,A., Megarbane,A., Loiselet,J., Petit,C. and Slim,R.
Journal Hum. Genet. 103 (2), 193-198 (1998)
Title A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene .
Author Jain,P.K., Lalwani,A.K., Li,X.C., Singleton,T.L., Smith,T.N., Chen,A., Deshmukh,D., Verma,I.C., Smith,R.J. and Wilcox,E.R.
Journal Genomics 50 (2), 290-292 (1998)
Title Characterization of human colon cancer antigens recognized by autologous antibodies .
Author Scanlan,M.J., Chen,Y.T., Williamson,B., Gure,A.O., Stockert,E., Gordan,J.D., Tureci,O., Sahin,U., Pfreundschuh,M. and Old,L.J.
Journal Int. J. Cancer 76 (5), 652-658 (1998)


Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Learn more about the GenEZ ORF Cloning Service.