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TMC1  -  transmembrane channel-like 1

Homo sapiens

Synonyms: DFNA36, DFNB11, DFNB7, Transmembrane channel-like protein 1, Transmembrane cochlear-expressed protein 1
 
 
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Disease relevance of TMC1

 

High impact information on TMC1

 

Chemical compound and disease context of TMC1

  • TMC-1 A, B, C and D, new antibiotics of the manumycin group produced by Streptomyces sp. Taxonomy, production, isolation, physico-chemical properties, structure elucidation and biological properties [2].
 

Biological context of TMC1

 

Anatomical context of TMC1

 

Associations of TMC1 with chemical compounds

  • We report observations, for the first time, of the 2(0) - 1(0)A+ and E, 2(-1) - 1(-1) E, and 1(0) - 0(0)A+ lines of methanol (CH3OH) in three dark cold clouds, TMC1, L134N, and B335 [11].
  • This is significantly greater than the observed abundance of CH3CN (methyl cyanide) in TMC-1 [12].
  • We derive total column densities of approximately 2.6 x 10(13) cm-2 and approximately 7.0 x 10(12) cm-2 at the SO peak of L134N and at the NH3 peak of TMC 1, respectively [13].
  • The fractional abundance of ketene is comparable to the predictions of ion-molecule chemistry, while that of thioformaldehyde in TMC-1 is one to two orders of magnitude greater than that expected from such models at steady state [14].
  • Tricarbon monoxide in TMC-1 [15].
 

Other interactions of TMC1

  • Our results indicate that TMC1 mutations account for at least 6% (4/65) of ARNSHL in GJB2-negative Turkish families from the northeast and east of Turkey [16].
  • Dominant mutations of transmembrane channel-like gene 1 (TMC1) cause progressive sensorineural hearing loss in humans and Beethoven (Tmc1Bth/+) mice [9].
  • We have determined the cDNA sequence and genomic structure of a novel cochlear-expressed gene, ZNF216, that maps to the DFNB7/11 interval [17].
  • Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2 [18].
 

Analytical, diagnostic and therapeutic context of TMC1

  • Using a radiation hybrid map, we have determined the correct marker order in the DFNB7/11 region and have demonstrated that the DFNB11 locus resides within a redefined DFNB7 interval [5].

References

  1. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Vreugde, S., Erven, A., Kros, C.J., Marcotti, W., Fuchs, H., Kurima, K., Wilcox, E.R., Friedman, T.B., Griffith, A.J., Balling, R., Hrabé De Angelis, M., Avraham, K.B., Steel, K.P. Nat. Genet. (2002) [Pubmed]
  2. TMC-1 A, B, C and D, new antibiotics of the manumycin group produced by Streptomyces sp. Taxonomy, production, isolation, physico-chemical properties, structure elucidation and biological properties. Kohno, J., Nishio, M., Kawano, K., Nakanishi, N., Suzuki, S., Uchida, T., Komatsubara, S. J. Antibiot. (1996) [Pubmed]
  3. Establishment and characterization of a human gastric carcinoma cell line TMC-1. Shyu, R.Y., Jiang, S.Y., Jong, Y.J., Cheng, K.C., Lin, C.H., Yu, J.C., Wu, M.F., Chang, T.M. Cells Tissues Organs (Print) (2004) [Pubmed]
  4. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 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., Keats, B.J., Wilcox, E.R., Friedman, T.B., Griffith, A.J. Nat. Genet. (2002) [Pubmed]
  5. Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Greinwald, J.H., Scott, D.A., Marietta, J.R., Carmi, R., Manaligod, J., Ramesh, A., Zbar, R.I., Kraft, M.L., Elbedour, K., Yairi, Y., Musy, M., Skvorak, A.B., Van Camp, G., Srisailapathy, C.R., Lovett, M., Morton, C.C., Sheffield, V.C., Smith, R.J. Genome Res. (1997) [Pubmed]
  6. First astronomical detection of the cumulene carbon chain molecule H2C6 in TMC-1. Langer, W.D., Velusamy, T., Kuiper, T.B., Peng, R., McCarthy, M.C., Travers, M.J., Kovacs, A., Gottlieb, C.A., Thaddeus, P. Astrophys. J. (1997) [Pubmed]
  7. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Santos, R.L., Wajid, M., Khan, M.N., McArthur, N., Pham, T.L., Bhatti, A., Lee, K., Irshad, S., Mir, A., Yan, K., Chahrour, M.H., Ansar, M., Ahmad, W., Leal, S.M. Hum. Mutat. (2005) [Pubmed]
  8. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. Meyer, C.G., Gasmelseed, N.M., Mergani, A., Magzoub, M.M., Muntau, B., Thye, T., Horstmann, R.D. Hum. Mutat. (2005) [Pubmed]
  9. Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36. Noguchi, Y., Kurima, K., Makishima, T., de Angelis, M.H., Fuchs, H., Frolenkov, G., Kitamura, K., Griffith, A.J. Genetics (2006) [Pubmed]
  10. A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. Kitajiri, S., Makishima, T., Friedman, T., Griffith, A. Clin. Genet. (2007) [Pubmed]
  11. Methanol in dark clouds. Friberg, P., Madden, S.C., Hjalmarson, A., Irvine, W.M. Astronomy and astrophysics. (1988) [Pubmed]
  12. Identification of the interstellar cyanomethyl radical (CH2CN) in the molecular clouds TMC-1 and Sagittarius B2. Irvine, W.M., Friberg, P., Hjalmarson, A., Ishikawa, S., Kaifu, N., Kawaguchi, K., Madden, S.C., Matthews, H.E., Ohishi, M., Saito, S., Suzuki, H., Thaddeus, P., Turner, B.E., Yamamoto, S., Ziurys, L.M. Astrophys. J. (1988) [Pubmed]
  13. Detection of interstellar hydrogen sulfide in cold, dark clouds. Minh, Y.C., Irvine, W.M., Ziurys, L.M. Astrophys. J. (1989) [Pubmed]
  14. Observations of some oxygen-containing and sulfur-containing organic molecules in cold dark clouds. Irvine, W.M., Friberg, P., Kaifu, N., Kawaguchi, K., Kitamura, Y., Matthews, H.E., Minh, Y., Saito, S., Ukita, N., Yamamoto, S. Astrophys. J. (1989) [Pubmed]
  15. Tricarbon monoxide in TMC-1. Brown, R.D., Godfrey, P.D., Cragg, D.M., Rice, E.H., Irvine, W.M., Friberg, P., Suzuki, H., Ohishi, M., Kaifu, N., Morimoto, M. Astrophys. J. (1985) [Pubmed]
  16. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Kalay, E., Karaguzel, A., Caylan, R., Heister, A., Cremers, F.P., Cremers, C.W., Brunner, H.G., de Brouwer, A.P., Kremer, H. Hum. Mutat. (2005) [Pubmed]
  17. Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. Scott, D.A., Greinwald, J.H., Marietta, J.R., Drury, S., Swiderski, R.E., Viñas, A., DeAngelis, M.M., Carmi, R., Ramesh, A., Kraft, M.L., Elbedour, K., Skworak, A.B., Friedman, R.A., Srikumari Srisailapathy, C.R., Verhoeven, K., Van Gamp, G., Lovett, M., Deininger, P.L., Batzer, M.A., Morton, C.C., Keats, B.J., Smith, R.J., Sheffield, V.C. Gene (1998) [Pubmed]
  18. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Scott, D.A., Drury, S., Sundstrom, R.A., Bishop, J., Swiderski, R.E., Carmi, R., Ramesh, A., Elbedour, K., Srikumari Srisailapathy, C.R., Keats, B.J., Sheffield, V.C., Smith, R.J. Gene (2000) [Pubmed]
 
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