View source for TMPRSS3

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Transmembrane protease, serine 3''' is an [[enzyme]] that in humans is encoded by the ''TMPRSS3'' [[gene]].<ref name="pmid11462234">{{cite journal | vauthors = 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 | title = Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | journal = Hum Mutat | volume = 18 | issue = 2 | pages = 101–8 |date=Jul 2001 | pmid = 11462234 | doi = 10.1002/humu.1159 | s2cid = 7917415 | doi-access = free }}</ref><ref name="pmid11907649">{{cite journal | vauthors = 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 | title = Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients | journal = J Mol Med | volume = 80 | issue = 2 | pages = 124–31 |date=Mar 2002 | pmid = 11907649 | doi = 10.1007/s00109-001-0310-6 | s2cid = 8185405 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TMPRSS3 transmembrane protease, serine 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64699}}</ref>
== Function ==
This gene encodes a member of the [[serine protease]] family. The encoded protein contains a serine protease domain, a [[transmembrane domain]], an [[Low-density lipoprotein receptor gene family#Class A|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 tumor]]s. Four [[alternatively spliced]] variants have been described, two of which encode identical products.<ref name="entrez" />
== See also ==
* [[Nonsyndromic deafness]] (DFNB8)
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
*{{cite journal  | vauthors=Guipponi M, Antonarakis SE, Scott HS |title=TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. |journal=Front. Biosci. |volume=13 |issue=  13|pages= 1557–67 |year= 2007 |pmid= 17981648 |doi=10.2741/2780  |url=https://archive-ouverte.unige.ch/unige:1279 |doi-access=free }}
*{{cite journal   |vauthors=Bonné-Tamir B, DeStefano AL, Briggs CE, etal |title=Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. |journal=Am. J. Hum. Genet. |volume=58 |issue= 6 |pages= 1254–9 |year= 1996 |pmid= 8651303 | pmc=1915077  }}
*{{cite journal   |vauthors=Wallrapp C, Hähnel S, Müller-Pillasch F, etal |title=A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer. |journal=Cancer Res. |volume=60 |issue= 10 |pages= 2602–6 |year= 2000 |pmid= 10825129 }}
*{{cite journal   |vauthors=Hattori M, Fujiyama A, Taylor TD, etal |title=The DNA sequence of human chromosome 21. |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518 |bibcode=2000Natur.405..311H |url=https://archive-ouverte.unige.ch/unige:8796 |doi-access=free }}
*{{cite journal   |vauthors=Underwood LJ, Shigemasa K, Tanimoto H, etal |title=Ovarian tumor cells express a novel multi-domain cell surface serine protease. |journal=Biochim. Biophys. Acta |volume=1502 |issue= 3 |pages= 337–50 |year= 2001 |pmid= 11068177 |doi=  10.1016/s0925-4439(00)00058-2|doi-access= }}
*{{cite journal   |vauthors=Scott HS, Kudoh J, Wattenhofer M, etal |title=Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 59–63 |year= 2001 |pmid= 11137999 |doi= 10.1038/83768 |doi-access= free }}
*{{cite journal   |vauthors=Ben-Yosef T, Wattenhofer M, Riazuddin S, etal |title=Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. |journal=J. Med. Genet. |volume=38 |issue= 6 |pages= 396–400 |year= 2001 |pmid= 11424922 |doi=  10.1136/jmg.38.6.396| pmc=1734898  }}
*{{cite journal   |vauthors=Guipponi M, Vuagniaux G, Wattenhofer M, etal |title=The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. |journal=Hum. Mol. Genet. |volume=11 |issue= 23 |pages= 2829–36 |year= 2003 |pmid= 12393794 |doi=10.1093/hmg/11.23.2829  |url=http://doc.rero.ch/record/296783/files/ddf283.pdf }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal  | vauthors=Lee YJ, Park D, Kim SY, Park WJ |title=Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. |journal=J. Med. Genet. |volume=40 |issue= 8 |pages= 629–31 |year= 2003 |pmid= 12920079 |doi=  10.1136/jmg.40.8.629| pmc=1735556  }}
*{{cite journal   |vauthors=Clark HF, Gurney AL, Abaya E, etal |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003  | pmc=403697 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
*{{cite journal   |vauthors=Ahmed ZM, Li XC, Powell SD, etal |title=Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. |journal=BMC Med. Genet. |volume=5|pages= 24 |year= 2004 |pmid= 15447792 |doi= 10.1186/1471-2350-5-24  | pmc=523852 |doi-access=free }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal   |vauthors=Wattenhofer M, Sahin-Calapoglu N, Andreasen D, etal |title=A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. |journal=Hum. Genet. |volume=117 |issue= 6 |pages= 528–35 |year= 2005 |pmid= 16021470 |doi= 10.1007/s00439-005-1332-x |s2cid=27045077 |url=http://doc.rero.ch/record/313785/files/439_2005_Article_1332.pdf }}
*{{cite journal   |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |hdl= 11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access= free }}
*{{cite journal   |vauthors=Hu YH, Warnatz HJ, Vanhecke D, etal |title=Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. |journal=BMC Genomics |volume=7|pages= 155 |year= 2006 |pmid= 16780588 |doi= 10.1186/1471-2164-7-155  | pmc=1526728 |doi-access=free }}
*{{cite journal   |vauthors=Elbracht M, Senderek J, Eggermann T, etal |title=Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. |journal=J. Med. Genet. |volume=44 |issue= 6 |pages= e81 |year= 2007 |pmid= 17551081 |doi= 10.1136/jmg.2007.049122 |pmc=2752172}}
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