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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

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Related Services

RefSeq Version NM_138691.2, 21071069
Length 3201 bp
Structure linear
Update Date 18-APR-2013
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
212+dbSNP:
212+a, cdbSNP:7856724
225..226+, gdbSNP:35604642
266+dbSNP:
266+a, gdbSNP:58824091
322+a, gdbSNP:7026304
433+dbSNP:
433+a, gdbSNP:183039764
520+dbSNP:
520+c, tdbSNP:201641451
539+a, gdbSNP:199639327
551+a, gdbSNP:145050019
585+dbSNP:
585+a, gdbSNP:2589615
586+a, gdbSNP:140437301
599+c, gdbSNP:189479995
604+a, gdbSNP:144387828
640+dbSNP:
640+c, tdbSNP:121908073
675+a, cdbSNP:111353632
681+a, tdbSNP:140388347
685+a, cdbSNP:149947445
733+a, gdbSNP:145098032
776+a, cdbSNP:140482278
778+dbSNP:
778+a, gdbSNP:145647775
781+c, tdbSNP:1796993
961+dbSNP:
961+a, c, tdbSNP:11143384
1000+dbSNP:
1000+g, tdbSNP:145102585
1012+c, tdbSNP:200841002
1013+a, gdbSNP:148340276
1085+dbSNP:
1085+a, gdbSNP:199560971
1136+a, gdbSNP:141523206
1158+a, cdbSNP:199499836
1191+dbSNP:
1191+g, tdbSNP:150896910
1225+a, gdbSNP:201827013
1236+c, tdbSNP:112843964
1243+g, tdbSNP:200831684
1275+c, tdbSNP:143404572
1299+dbSNP:
1299+c, tdbSNP:143200611
1300+a, gdbSNP:111033497
1305+c, tdbSNP:201230747
1331+a, gdbSNP:147147941
1335+a, cdbSNP:140398130
1354+a, gdbSNP:111839361
1433+dbSNP:
1433+a, gdbSNP:149912546
1464+c, gdbSNP:113342704
1468+a, gdbSNP:144501871
1476+g, tdbSNP:148443938
1496+c, gdbSNP:142629075
1559+c, tdbSNP:111033464
1705+dbSNP:
1705+c, tdbSNP:151001642
1729+a, gdbSNP:185702148
1773+dbSNP:
1773+a, gdbSNP:184603559
1803+a, gdbSNP:139985214
1997+dbSNP:
1997+c, tdbSNP:17058153
2074+c, tdbSNP:200171616
2083+c, tdbSNP:121908076
2102+g, tdbSNP:146558576
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
2253+c, tdbSNP:34532421
2254+a, c, gdbSNP:121908072
2338+dbSNP:
2338+a, gdbSNP:202144745
2479+c, tdbSNP:138527651
2500+a, gdbSNP:121908074
2506+a, gdbSNP:144147585
2584+dbSNP:
2584+c, gdbSNP:199819595
2589+c, tdbSNP:184318138
2610+a, gdbSNP:145757452
2684+dbSNP:
2684+a, tdbSNP:41310067
2736+c, gdbSNP:142701058
2741+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
3071+, 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 The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians .
Author Searle,C., Mavrogiannis,L.A., Bennett,C.P. and Charlton,R.S.
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,A.M., Collin,R.W., Huygen,P.L., Schraders,M., Oostrik,J., Rouwette,M., Kunst,H.P., Kremer,H. and Cremers,C.W.
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,M.S., Kahrizi,K., Bromhead,C.J., Shearer,A.E., Webster,J.A., Khodaei,H., Abtahi,R., Bazazzadegan,N., Babanejad,M., Nikzat,N., Kimberling,W.J., Stephan,D., Huygen,P.L., Bahlo,M., Smith,R.J. and Najmabadi,H.
Journal Ann. Otol. Rhinol. Laryngol. 119 (12), 830-835 (2010)
Title High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects .
Author Ben Said,M., Hmani-Aifa,M., Amar,I., Baig,S.M., Mustapha,M., Delmaghani,S., Tlili,A., Ghorbel,A., Ayadi,H., Van Camp,G., Smith,R.J., Tekin,M. and Masmoudi,S.
Journal Genet Test Mol Biomarkers 14 (3), 307-311 (2010)
Title A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus .
Author Yang,T., Kahrizi,K., Bazazzadeghan,N., Meyer,N., Najmabadi,H. and Smith,R.J.
Journal Clin. Genet. 77 (4), 395-398 (2010)
Title Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss .
Author Kalay,E., Karaguzel,A., Caylan,R., Heister,A., Cremers,F.P., Cremers,C.W., Brunner,H.G., de Brouwer,A.P. and Kremer,H.
Journal Hum. Mutat. 26 (6), 591 (2005)
Title Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree .
Author Meyer,C.G., Gasmelseed,N.M., Mergani,A., Magzoub,M.M., Muntau,B., Thye,T. and Horstmann,R.D.
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,C.J., Marcotti,W., Fuchs,H., Kurima,K., Wilcox,E.R., Friedman,T.B., Griffith,A.J., Balling,R., Hrabe De Angelis,M., Avraham,K.B. and Steel,K.P.
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,L.M., Yang,Y., Riazuddin,S., Ahmed,Z.M., Naz,S., Arnaud,D., Drury,S., Mo,J., Makishima,T., Ghosh,M., Menon,P.S., Deshmukh,D., Oddoux,C., Ostrer,H., Khan,S., Riazuddin,S., Deininger,P.L., Hampton,L.L., Sullivan,S.L., Battey,J.F. Jr., Keats,B.J., Wilcox,E.R., Friedman,T.B. and Griffith,A.J.
Journal Nat. Genet. 30 (3), 277-284 (2002)


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