• 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.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20937 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu20937C Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_005709.3, 225690577
Length 1659 bp
Structure linear
Update Date 05-MAY-2014
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..976
Misc Feature(8)order(770..781,785..787,929..934,941..946)
Misc Feature(9)989..>1414
Misc Feature(10)1460..1723
Misc Feature(11)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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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; PDZD7C; 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(50)-g, adbSNP:371444878
complement(74)-t, cdbSNP:370904833
complement(79)-c, adbSNP:374794188
complement(85)-g, cdbSNP:371621268
complement(170)-dbSNP:
complement(170)-c, adbSNP:181215175
complement(185)-g, adbSNP:267602805
complement(191)-t, cdbSNP:143192514
200+c, tdbSNP:121908370
complement(204)-g, adbSNP:376949470
complement(210)-t, cdbSNP:75157409
complement(214)-dbSNP:
complement(214)-g, cdbSNP:369151395
complement(223)-g, adbSNP:137962152
complement(236)-t, cdbSNP:145500807
complement(244)-t, gdbSNP:140319839
complement(251)-g, cdbSNP:374829758
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(296)-g, adbSNP:375741564
complement(297)-t, cdbSNP:372497947
complement(306)-c, adbSNP:145040342
complement(313)-c, adbSNP:140945339
complement(325)-t, cdbSNP:151045328
347..348+, cdbSNP:397515359
complement(348)-t, cdbSNP:148597739
373+dbSNP:
373+a, gdbSNP:397517879
complement(384)-t, cdbSNP:147954324
complement(385)-g, adbSNP:367957451
complement(394)-g, cdbSNP:374515579
complement(403)-t, cdbSNP:34055234
complement(404)-t, cdbSNP:370054635
416+c, tdbSNP:397517880
417+a, gdbSNP:397514500
complement(469)-g, adbSNP:140869579
complement(470)-t, cdbSNP:377510653
complement(471)-c, adbSNP:147383732
complement(487)-g, adbSNP:369375384
complement(490)-c, adbSNP:41282942
complement(497)-dbSNP:
complement(497)-t, cdbSNP:55843567
complement(505)-g, adbSNP:150522757
complement(512)-t, cdbSNP:145013633
complement(515)-g, adbSNP:368903400
complement(517)-g, cdbSNP:200335331
complement(524)-t, cdbSNP:376786663
complement(560)-t, cdbSNP:369866148
complement(572)-g, adbSNP:377145777
complement(573)-g, cdbSNP:142730611
complement(589)-t, cdbSNP:201812681
complement(605)-g, adbSNP:367996370
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
691+dbSNP:
691+c, tdbSNP:397517882
696+a, gdbSNP:397517883
complement(701)-t, adbSNP:141771249
complement(713)-g, adbSNP:145568338
complement(738)-t, gdbSNP:372789934
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(887)-dbSNP:
complement(887)-t, cdbSNP:369461618
complement(898)-g, adbSNP:376197674
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
1017+a, gdbSNP:397517884
1055+c, gdbSNP: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(1225)-t, cdbSNP:367623689
complement(1229)-g, adbSNP:374699745
complement(1232)-g, cdbSNP:372333441
complement(1245)-t, cdbSNP:202174251
complement(1277)-t, cdbSNP:374410443
complement(1297)-t, g, c, adbSNP:2240487
complement(1304)-g, adbSNP:267602804
complement(1324)-dbSNP:
complement(1324)-c, adbSNP:148649303
complement(1329)-t, g, cdbSNP:143923730
complement(1352)-t, cdbSNP:116996553
complement(1370)-t, cdbSNP:115931035
1375+a, gdbSNP:35188020
1400+dbSNP:
1400+c, tdbSNP:397517874
complement(1401)-t, cdbSNP:371626423
complement(1403)-t, cdbSNP:148168494
complement(1434)-g, adbSNP:200182990
complement(1449)-dbSNP:
complement(1449)-t, cdbSNP:201600193
complement(1455)-g, adbSNP:370437884
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(1519)-g, adbSNP:375492038
complement(1549)-g, adbSNP:10832796
1550+a, gdbSNP:397517875
complement(1556)-t, gdbSNP:34077456
complement(1558)-g, adbSNP:376193347
complement(1568)-g, adbSNP:374376964
complement(1571)-t, cdbSNP:199729381
complement(1583)-g, adbSNP:200428926
complement(1586)-g, adbSNP:372227474
complement(1600)-dbSNP:
complement(1600)-t, cdbSNP:375973884
complement(1609)-g, adbSNP:139787873
complement(1610)-t, cdbSNP:371257969
complement(1614)-g, adbSNP:368663700
complement(1619)-t, cdbSNP:150593932
1627+c, tdbSNP:397517876
complement(1628)-t, cdbSNP:142652588
1650+a, cdbSNP:397517877
complement(1652)-g, adbSNP:148477093
1666+c, gdbSNP:1064074
1667+a, gdbSNP:397517878
complement(1675)-c, adbSNP:374464706
complement(1696)-g, adbSNP:142801489
complement(1697)-t, cdbSNP:142751309
complement(1708)-dbSNP:
complement(1708)-t, cdbSNP:34581703
complement(1709)-t, cdbSNP:201644053
complement(1724)-t, cdbSNP:370178142
complement(1747)-g, adbSNP:143860238
complement(1748)-t, cdbSNP:138123405
complement(1796)-dbSNP:
complement(1796)-c, adbSNP:148376296
complement(1827)-t, cdbSNP:376858157
complement(1842)-g, adbSNP:16934270
complement(1843)-t, cdbSNP:369486851
1846+c, tdbSNP:1055574
complement(1870)-g, adbSNP:184722933
complement(1910)-g, cdbSNP:75815445
complement(1960)-t, cdbSNP:372995440
complement(1985)-t, gdbSNP:147350505
1986+c, tdbSNP:1055577
2011+a, gdbSNP:1055581
complement(2058)-t, cdbSNP:192348078
complement(2072)-t, cdbSNP:199935553
complement(2123..2124)-, cdbSNP:36088380
complement(2205)-g, cdbSNP:11827649
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; PDZD7C; ush1cpst
Chromosome11
Locus Map11p14.3
Title Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 .
Author Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H and Usami S.
Journal PLoS ONE 9 (3), E90688 (2014)
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 Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss .
Author Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E and Sharon D.
Journal PLoS ONE 7 (12), E51566 (2012)
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 AF.
Journal Hum. Mutat. 29 (8), E76-E87 (2008)
Title Isoforms of the human PDZ-73 protein exhibit differential tissue expression .
Author Scanlan MJ, Williamson B, Jungbluth A, Stockert E, Arden KC, Viars CS, Gure AO, Gordan JD, Chen YT and Old LJ.
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 PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ and Wilcox ER.
Journal Genomics 50 (2), 290-292 (1998)
Title Characterization of human colon cancer antigens recognized by autologous antibodies .
Author Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Tureci O, Sahin U, Pfreundschuh M and Old LJ.
Journal Int. J. Cancer 76 (5), 652-658 (1998)
Title Usher Syndrome Type I .
Author Keats,B.J.B. and Lentz,J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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