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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_138691 Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_138691.2, 21071069
Length 3201 bp
Structure linear
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.
Product transmembrane channel-like protein 1
Comment

Summary: This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008].

RefSeq NP_619636.2
CDS 541..2823
Misc Feature(1)523..525
Misc Feature(2)1138..1200
Misc Feature(3)1138..1200
Misc Feature(4)1357..1419
Misc Feature(5)1636..1698
Misc Feature(6)1861..1923
Misc Feature(7)2083..2430
Misc Feature(8)2443..2505
Misc Feature(9)2638..2700
Exon (1)1..113
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (2)114..235
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (3)236..345
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (4)346..488
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (5)489..556
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (6)557..604
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (7)605..776
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (8)777..902
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (9)903..993
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (10)994..1075
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (11)1076..1182
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (12)1183..1281
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (13)1282..1424
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (14)1425..1569
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (15)1570..1764
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (16)1765..1944
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (17)1945..2106
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (18)2107..2235
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (19)2236..2303
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (20)2304..2543
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (21)2544..2669
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (22)2670..2748
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (23)2749..2800
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Exon (24)2801..3201
Gene:TMC1
Gene Synonym:DFNA36; DFNB11; DFNB7
Translation MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPED EETRKAREKERRRRLKRGAEEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVL KEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDFENFKAACVPWENKIKAIESQ FGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANF GVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNI GDDGGGDDNTFNFSWKVFTSWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHL IRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFC PTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANIT LWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTIL IGDFLRACFVRFCNYCWCWDLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGI NILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGMLLLILFLSTMPVLYMIVSLPP SFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATA KGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ
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Position Chain Variation Link
1+dbSNP:
1+c, tdbSNP:112220638
73+a, gdbSNP:7022441
119+dbSNP:
119+a, tdbSNP:376907111
212+a, cdbSNP:7856724
225..226+, gdbSNP:35604642
266+dbSNP:
266+a, gdbSNP:58824091
322+a, gdbSNP:7026304
361+dbSNP:
361+a, tdbSNP:371546038
433+a, gdbSNP:183039764
520+dbSNP:
520+c, tdbSNP:201641451
539+a, gdbSNP:199639327
551+a, gdbSNP:145050019
563+dbSNP:
563+a, tdbSNP:372383725
complement(585)-g, adbSNP:2589615
586+a, gdbSNP:140437301
599+c, gdbSNP:189479995
604+a, gdbSNP:144387828
629+dbSNP:
629+a, gdbSNP:367993839
640+c, tdbSNP:121908073
675+a, cdbSNP:111353632
681+a, tdbSNP:140388347
685+a, cdbSNP:149947445
733+a, gdbSNP:145098032
776+a, cdbSNP:140482278
777..779+dbSNP:
777..779+, agadbSNP:376040866
778+a, gdbSNP:145647775
complement(781)-t, cdbSNP:1796993
787..789+, gaadbSNP:397517839
879+a, gdbSNP:397517840
882+a, gdbSNP:370554600
902+a, gdbSNP:368673178
913+dbSNP:
913+a, cdbSNP:377607548
922+a, gdbSNP:372983741
943+a, gdbSNP:397517841
961+a, c, tdbSNP:11143384
1000+dbSNP:
1000+g, tdbSNP:145102585
1001+c, tdbSNP:371485372
1012+c, tdbSNP:200841002
1013+a, gdbSNP:148340276
1023+a, gdbSNP:375984349
1038+a, gdbSNP:370032879
1085+dbSNP:
1085+a, gdbSNP:199560971
1089+c, tdbSNP:375128682
1125+g, tdbSNP:368246679
1143+g, tdbSNP:372449375
1146+c, gdbSNP:376768305
1158+a, cdbSNP:199499836
1159+a, tdbSNP:368042336
1191+dbSNP:
1191+g, tdbSNP:150896910
1214+c, tdbSNP:370088722
1225+a, gdbSNP:201827013
1236+c, tdbSNP:112843964
1237+a, gdbSNP:373537563
1243+g, tdbSNP:200831684
1275+c, tdbSNP:143404572
1299+dbSNP:
1299+c, tdbSNP:143200611
1300+a, gdbSNP:111033497
1301+c, tdbSNP:375919123
1305+c, tdbSNP:201230747
1331+a, c, gdbSNP:147147941
1335+a, cdbSNP:140398130
1354+a, gdbSNP:111839361
1362+a, gdbSNP:370523728
1381+g, tdbSNP:397517842
1433+dbSNP:
1433+a, gdbSNP:149912546
1464+c, gdbSNP:113342704
1468+a, gdbSNP:144501871
1476+g, tdbSNP:148443938
1496+c, gdbSNP:142629075
1550+a, cdbSNP:376305043
1559+c, tdbSNP:111033464
1610+dbSNP:
1610+a, gdbSNP:397517834
1654+a, gdbSNP:367924428
1679+a, gdbSNP:372215112
1705+c, tdbSNP:151001642
1720+g, tdbSNP:374313036
1725+a, gdbSNP:371815403
1729+a, gdbSNP:185702148
1773+dbSNP:
1773+a, gdbSNP:184603559
1782+c, tdbSNP:371854262
1803+a, gdbSNP:139985214
1841+a, cdbSNP:375264737
1869+a, gdbSNP:369197132
1873+c, tdbSNP:372710475
1909+c, tdbSNP:397517836
1959+dbSNP:
1959+c, gdbSNP:371004715
1968+a, gdbSNP:373847743
1997+c, tdbSNP:17058153
2006+c, tdbSNP:368087393
2025+g, tdbSNP:370302201
2074+c, tdbSNP:200171616
2083+c, tdbSNP:121908076
2102+g, tdbSNP:146558576
2106+a, gdbSNP:372344935
2142+dbSNP:
2142+c, gdbSNP:111033462
2149+a, gdbSNP:150206751
2160+c, tdbSNP:145772877
2162+c, tdbSNP:201955337
2188+g, tdbSNP:201465054
2245+dbSNP:
2245+a, gdbSNP:148971770
2248+a, gdbSNP:369890353
2253+c, tdbSNP:34532421
2254+a, c, gdbSNP:121908072
2274+c, tdbSNP:374323593
2291+a, gdbSNP:377731576
2304+dbSNP:
2304+a, gdbSNP:368084452
2338+a, gdbSNP:202144745
2386+a, gdbSNP:376422017
2454+a, cdbSNP:370910801
2479+c, tdbSNP:138527651
2500+a, gdbSNP:121908074
2505+c, tdbSNP:373662034
2506+a, gdbSNP:144147585
2528+a, gdbSNP:397517837
2584+dbSNP:
2584+c, gdbSNP:199819595
2589+c, tdbSNP:184318138
2608+a, gdbSNP:397517838
2609+c, tdbSNP:371947894
2610+a, gdbSNP:145757452
2651+c, gdbSNP:376843201
2684+dbSNP:
2684+a, tdbSNP:41310067
2736+c, gdbSNP:142701058
2741+a, c, tdbSNP:201945537
2754+dbSNP:
2754+c, tdbSNP:111387206
2770+c, tdbSNP:150738413
2785+g, tdbSNP:139102393
2794+c, tdbSNP:149506642
2795+a, gdbSNP:191912512
2815+dbSNP:
2815+c, tdbSNP:142073640
2849+c, gdbSNP:191962062
2851+a, cdbSNP:151157872
2861+g, tdbSNP:200052749
2916+c, tdbSNP:184207177
2929+c, gdbSNP:79830675
3006+a, gdbSNP:71507808
3048+c, tdbSNP:111371259
3070..3071+, tdbSNP:71495343
3084..3085+, ttdbSNP:78220845
3101+a, gdbSNP:145061856
3144+g, tdbSNP:4745199
3154+a, tdbSNP:189532970
Gene SymbolTMC1
Gene SynonymDFNA36; DFNB11; DFNB7
Chromosome9
Locus Map9q21.12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_138691 Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. On-demand $849.00 20
Title Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family .
Author Gao X, Su Y, Guan LP, Yuan YY, Huang SS, Lu Y, Wang GJ, Han MY, Yu F, Song YS, Zhu QY, Wu J and Dai P.
Journal PLoS ONE 8 (5), E63026 (2013)
Title A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect .
Author Davoudi-Dehaghani E, Zeinali S, Mahdieh N, Shirkavand A, Bagherian
Journal Int. J. Pediatr. Otorhinolaryngol. 77 (5), 821-826 (2013)
Title The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians .
Author Searle C, Mavrogiannis LA, Bennett CP and Charlton RS.
Journal Genet Test Mol Biomarkers 16 (5), 453-455 (2012)
Title Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1 .
Author de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H and Cremers CW.
Journal Audiol. Neurootol. 16 (2), 93-105 (2011)
Title Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population .
Author Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ and Najmabadi H.
Journal Ann. Otol. Rhinol. Laryngol. 119 (12), 830-835 (2010)
Title Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree .
Author Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T and Horstmann RD.
Journal Hum. Mutat. 25 (1), 100 (2005)
Title TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins .
Author Keresztes G, Mutai H and Heller S.
Journal BMC Genomics 4 (1), 24 (2003)
Title Beethoven, a mouse model for dominant, progressive hearing loss DFNA36 .
Author Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabe De Angelis M, Avraham KB and Steel KP.
Journal Nat. Genet. 30 (3), 257-258 (2002)
Title Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function .
Author Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB and Griffith AJ.
Journal Nat. Genet. 30 (3), 277-284 (2002)
Title Deafness and Hereditary Hearing Loss Overview .
Author Smith,R.J.H., Shearer,A.E., Hildebrand,M.S. and Van Camp,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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