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Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_032405 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

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RefSeq Version NM_032405.1, 14602456
Length 1359 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA.
Product transmembrane protease serine 3 isoform 3
Comment

Summary: This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like 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. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012].


Transcript Variant: This variant (D) lacks several 3' exons, but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant A. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.

RefSeq NP_115781.1
CDS 202..1236
Misc Feature(1)1..298
Misc Feature(2)1..298
Misc Feature(3)421..522
Misc Feature(4)421..522
Misc Feature(5)order(430..432,457..459,490..495)
Misc Feature(6)order(469..471,478..480,490..492,508..513)
Misc Feature(7)499..513
Misc Feature(8)523..>648
Misc Feature(9)850..>1173
Misc Feature(10)850..852
Misc Feature(11)order(970..972,1111..1113)
Misc Feature(12)299..406
Misc Feature(13)299..406
Misc Feature(14)1153..1154
Misc Feature(15)1154..1359
Exon (1)151..295
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (2)296..406
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (3)407..523
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (4)524..647
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (5)648..773
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (6)774..817
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (7)818..983
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (8)984..1342
Gene:TMPRSS3
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Translation MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALI LALAIGLGIHFDCSGKYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVF TAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDK VTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYH LCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKR LGNDIALMKLAGPLTFNGTSGSLCGSAALPLFQEDLQLLIEAFL
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Position Chain Variation Link
complement(4)-dbSNP:
complement(4)-t, cdbSNP:56100074
complement(20)-t, cdbSNP:147296608
complement(30)-t, cdbSNP:191054653
complement(33)-g, adbSNP:56347158
complement(55)-t, cdbSNP:200277359
complement(71)-g, cdbSNP:56369547
complement(166)-dbSNP:
complement(166)-g, cdbSNP:186244930
complement(168)-t, cdbSNP:73372256
complement(218)-g, adbSNP:139865555
complement(219)-t, cdbSNP:200199344
complement(222)-t, adbSNP:143981919
complement(226)-g, cdbSNP:149481350
complement(234)-g, adbSNP:138052370
complement(240)-g, cdbSNP:150765531
complement(252)-t, cdbSNP:182209675
complement(284)-t, gdbSNP:137882698
complement(302)-t, adbSNP:142917173
complement(324)-c, adbSNP:201147366
complement(336)-t, cdbSNP:140388341
complement(358)-t, cdbSNP:928302
complement(362)-g, adbSNP:142317371
complement(413)-dbSNP:
complement(413)-g, adbSNP:185332310
complement(414)-g, adbSNP:200937562
complement(432)-g, adbSNP:139934512
complement(439)-g, adbSNP:143733205
complement(440)-t, cdbSNP:146159479
complement(459)-g, adbSNP:192083827
complement(469)-t, cdbSNP:45598239
complement(472)-g, adbSNP:199903164
complement(480)-g, adbSNP:145824109
complement(481)-t, cdbSNP:143762350
complement(483)-t, cdbSNP:143130957
complement(488)-g, adbSNP:201811831
complement(501)-g, adbSNP:146621712
complement(510)-t, cdbSNP:111033502
complement(517)-g, adbSNP:139805921
complement(518)-t, cdbSNP:200028529
complement(526)-dbSNP:
complement(526)-g, adbSNP:201632198
complement(527)-t, cdbSNP:139484231
complement(532)-g, adbSNP:35227181
complement(546)-g, adbSNP:142577467
complement(547)-t, cdbSNP:200090033
complement(548)-g, adbSNP:201007237
complement(573)-t, c, adbSNP:141682398
complement(592)-t, cdbSNP:144556872
complement(612)-g, adbSNP:142784113
complement(613)-t, cdbSNP:140614903
complement(614)-t, gdbSNP:147231991
complement(633)-t, cdbSNP:61731564
complement(652)-dbSNP:
complement(652)-g, cdbSNP:187406481
complement(653)-t, adbSNP:181757077
complement(654)-t, cdbSNP:2839501
complement(667)-g, adbSNP:189002288
complement(696..697)-, gdbSNP:34332832
complement(698)-c, adbSNP:150397427
complement(717)-g, adbSNP:141476064
complement(741)-t, cdbSNP:201438268
complement(742)-t, cdbSNP:148313943
complement(790)-dbSNP:
complement(790)-g, cdbSNP:145109634
complement(794)-t, cdbSNP:200153943
complement(808)-t, gdbSNP:141372828
complement(841)-dbSNP:
complement(841)-t, cdbSNP:146604336
complement(847)-g, adbSNP:145913750
complement(848)-t, g, adbSNP:137853000
complement(882)-t, cdbSNP:201260442
complement(906)-g, cdbSNP:202037999
complement(916)-g, adbSNP:149001183
complement(954)-g, cdbSNP:137852999
complement(958)-t, cdbSNP:2839500
complement(987)-dbSNP:
complement(987)-g, cdbSNP:149869600
complement(990)-g, adbSNP:147181936
complement(1002)-t, cdbSNP:147785678
complement(1011)-t, gdbSNP:144303402
complement(1032)-g, cdbSNP:140552212
complement(1057)-t, adbSNP:147189374
complement(1117)-t, cdbSNP:181949335
complement(1134)-g, adbSNP:145235893
complement(1170)-t, cdbSNP:115489719
Gene SymbolTMPRSS3
Gene SynonymDFNB10; DFNB8; ECHOS1; TADG12
Chromosome21
Locus Map21q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001256317 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant F, mRNA. On-demand $699.00 18
NM_024022 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. On-demand $699.00 18
NM_032404 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant C, mRNA. On-demand $549.00 14
NM_032405 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA. On-demand $549.00 14
Title Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment .
Author Lee,K., Khan,S., Islam,A., Ansar,M., Andrade,P.B., Kim,S., Santos-Cortez,R.L., Ahmad,W. and Leal,S.M.
Journal Clin. Genet. 82 (1), 56-63 (2012)
Title A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation .
Author Guerrero,K., Wang,Z., Bachvarova,M., Gregoire,J., Renaud,M.C., Plante,M. and Bachvarov,D.
Journal Gynecol. Oncol. 125 (3), 720-726 (2012)
Title Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss .
Author Charif,M., Abidi,O., Boulouiz,R., Nahili,H., Rouba,H., Kandil,M., Delprat,B., Lenaers,G. and Barakat,A.
Journal Biochem. Biophys. Res. Commun. 419 (4), 643-647 (2012)
Title Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations .
Author Weegerink,N.J., Schraders,M., Oostrik,J., Huygen,P.L., Strom,T.M., Granneman,S., Pennings,R.J., Venselaar,H., Hoefsloot,L.H., Elting,M., Cremers,C.W., Admiraal,R.J., Kremer,H. and Kunst,H.P.
Journal J. Assoc. Res. Otolaryngol. 12 (6), 753-766 (2011)
Title Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan .
Author Ahmed,Z.M., Li,X.C., Powell,S.D., Riazuddin,S., Young,T.L., Ramzan,K., Ahmad,Z., Luscombe,S., Dhillon,K., MacLaren,L., Ploplis,B., Shotland,L.I., Ives,E., Riazuddin,S., Friedman,T.B., Morell,R.J. and Wilcox,E.R.
Journal BMC Med. Genet. 5, 24 (2004)
Title Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness .
Author Ben-Yosef,T., Wattenhofer,M., Riazuddin,S., Ahmed,Z.M., Scott,H.S., Kudoh,J., Shibuya,K., Antonarakis,S.E., Bonne-Tamir,B., Radhakrishna,U., Naz,S., Ahmed,Z., Riazuddin,S., Pandya,A., Nance,W.E., Wilcox,E.R., Friedman,T.B. and Morell,R.J.
Journal J. Med. Genet. 38 (6), 396-400 (2001)
Title Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness .
Author Scott,H.S., Kudoh,J., Wattenhofer,M., Shibuya,K., Berry,A., Chrast,R., Guipponi,M., Wang,J., Kawasaki,K., Asakawa,S., Minoshima,S., Younus,F., Mehdi,S.Q., Radhakrishna,U., Papasavvas,M.P., Gehrig,C., Rossier,C., Korostishevsky,M., Gal,A., Shimizu,N., Bonne-Tamir,B. and Antonarakis,S.E.
Journal Nat. Genet. 27 (1), 59-63 (2001)
Title Ovarian tumor cells express a novel multi-domain cell surface serine protease .
Author Underwood,L.J., Shigemasa,K., Tanimoto,H., Beard,J.B., Schneider,E.N., Wang,Y., Parmley,T.H. and O'Brien,T.J.
Journal Biochim. Biophys. Acta 1502 (3), 337-350 (2000)
Title A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer .
Author Wallrapp,C., Hahnel,S., Muller-Pillasch,F., Burghardt,B., Iwamura,T., Ruthenburger,M., Lerch,M.M., Adler,G. and Gress,T.M.
Journal Cancer Res. 60 (10), 2602-2606 (2000)
Title Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 .
Author Bonne-Tamir,B., DeStefano,A.L., Briggs,C.E., Adair,R., Franklyn,B., Weiss,S., Korostishevsky,M., Frydman,M., Baldwin,C.T. and Farrer,L.A.
Journal Am. J. Hum. Genet. 58 (6), 1254-1259 (1996)


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