TMPRSS3 explained

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.^{[1] [2] [3]}

Function

This gene encodes a member of the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor class A domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor associated gene that is overexpressed in ovarian tumors. Four alternatively spliced variants have been described, two of which encode identical products.

See also

• Nonsyndromic deafness (DFNB8)

Further reading

• Guipponi M, Antonarakis SE, Scott HS . TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. . Front. Biosci. . 13 . 13. 1557–67 . 2007 . 17981648 . 10.2741/2780 . free .
• Bonné-Tamir B, DeStefano AL, Briggs CE, etal . Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. . Am. J. Hum. Genet. . 58 . 6 . 1254–9 . 1996 . 8651303 . 1915077 .
• Wallrapp C, Hähnel S, Müller-Pillasch F, etal . A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer. . Cancer Res. . 60 . 10 . 2602–6 . 2000 . 10825129 .
• Hattori M, Fujiyama A, Taylor TD, etal . The DNA sequence of human chromosome 21. . Nature . 405 . 6784 . 311–9 . 2000 . 10830953 . 10.1038/35012518 . 2000Natur.405..311H . free .
• Underwood LJ, Shigemasa K, Tanimoto H, etal . Ovarian tumor cells express a novel multi-domain cell surface serine protease. . Biochim. Biophys. Acta . 1502 . 3 . 337–50 . 2001 . 11068177 . 10.1016/s0925-4439(00)00058-2.
• Scott HS, Kudoh J, Wattenhofer M, etal . Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. . Nat. Genet. . 27 . 1 . 59–63 . 2001 . 11137999 . 10.1038/83768 . free .
• Ben-Yosef T, Wattenhofer M, Riazuddin S, etal . Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. . J. Med. Genet. . 38 . 6 . 396–400 . 2001 . 11424922 . 10.1136/jmg.38.6.396. 1734898 .
• Guipponi M, Vuagniaux G, Wattenhofer M, etal . The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. . Hum. Mol. Genet. . 11 . 23 . 2829–36 . 2003 . 12393794 . 10.1093/hmg/11.23.2829 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Lee YJ, Park D, Kim SY, Park WJ . Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. . J. Med. Genet. . 40 . 8 . 629–31 . 2003 . 12920079 . 10.1136/jmg.40.8.629. 1735556 .
• Clark HF, Gurney AL, Abaya E, etal . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Ahmed ZM, Li XC, Powell SD, etal . Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. . BMC Med. Genet. . 5. 24 . 2004 . 15447792 . 10.1186/1471-2350-5-24 . 523852 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Wattenhofer M, Sahin-Calapoglu N, Andreasen D, etal . A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. . Hum. Genet. . 117 . 6 . 528–35 . 2005 . 16021470 . 10.1007/s00439-005-1332-x . 27045077 .
• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
• Hu YH, Warnatz HJ, Vanhecke D, etal . Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. . BMC Genomics . 7. 155 . 2006 . 16780588 . 10.1186/1471-2164-7-155 . 1526728 . free .
• Elbracht M, Senderek J, Eggermann T, etal . Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. . J. Med. Genet. . 44 . 6 . e81 . 2007 . 17551081 . 10.1136/jmg.2007.049122 . 2752172.

Notes and References

1. Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M . Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness . Hum Mutat . 18 . 2 . 101–8 . Jul 2001 . 11462234 . 10.1002/humu.1159 . 7917415 . free .
2. Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE . Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients . J Mol Med . 80 . 2 . 124–31 . Mar 2002 . 11907649 . 10.1007/s00109-001-0310-6 . 8185405 .
3. Web site: Entrez Gene: TMPRSS3 transmembrane protease, serine 3.