LOCUS       NM_001256317            2396 bp    mRNA    linear   PRI 13-DEC-2024
DEFINITION  Homo sapiens transmembrane serine protease 3 (TMPRSS3), transcript
            variant F, mRNA.
ACCESSION   NM_001256317
VERSION     NM_001256317.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2396)
  AUTHORS   Wang,Y., Liang,Y., Huang,B., Cen,X., Huang,L. and Chen,K.
  TITLE     [Late-onset hereditary hearing loss caused by TMPRSS3 compound
            heterozygous mutations]
  JOURNAL   Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 38 (8), 679-686
            (2024)
   PUBMED   39118504
  REMARK    GeneRIF: [Late-onset hereditary hearing loss caused by TMPRSS3
            compound heterozygous mutations].
REFERENCE   2  (bases 1 to 2396)
  AUTHORS   AitRaise,I., Amalou,G., Bakhchane,A., Bousfiha,A., Abdelghaffar,H.,
            Majida,C., Bonnet,C., Petit,C. and Barakat,A.
  TITLE     Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated
            with Non-syndromic Deafness in Moroccan Families
  JOURNAL   Biochem Genet 62 (3), 1914-1924 (2024)
   PUBMED   37777971
  REMARK    GeneRIF: Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes
            Associated with Non-syndromic Deafness in Moroccan Families.
REFERENCE   3  (bases 1 to 2396)
  AUTHORS   Nisenbaum,E., Yan,D., Shearer,A.E., de Joya,E., Thielhelm,T.,
            Russell,N., Staecker,H., Chen,Z., Holt,J.R. and Liu,X.
  TITLE     Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with
            Emphasis on Natural History
  JOURNAL   Audiol Neurootol 28 (6), 407-419 (2023)
   PUBMED   37331337
  REMARK    GeneRIF: Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8)
            with Emphasis on Natural History.
            Review article
REFERENCE   4  (bases 1 to 2396)
  AUTHORS   Chen,Y.S., Cabrera,E., Tucker,B.J., Shin,T.J., Moawad,J.V.,
            Totten,D.J., Booth,K.T. and Nelson,R.F.
  TITLE     TMPRSS3 expression is limited in spiral ganglion neurons:
            implication for successful cochlear implantation
  JOURNAL   J Med Genet 59 (12), 1219-1226 (2022)
   PUBMED   35961784
  REMARK    GeneRIF: TMPRSS3 expression is limited in spiral ganglion neurons:
            implication for successful cochlear implantation.
            Review article
REFERENCE   5  (bases 1 to 2396)
  AUTHORS   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.
  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 5, 24 (2004)
   PUBMED   15447792
  REMARK    GeneRIF: Identification of mutations in TMPRSS3 in Pakistani
            families with recessive, nonsyndromic congenital deafness.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2396)
  AUTHORS   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.
  TITLE     Insertion of beta-satellite repeats identifies a transmembrane
            protease causing both congenital and childhood onset autosomal
            recessive deafness
  JOURNAL   Nat Genet 27 (1), 59-63 (2001)
   PUBMED   11137999
REFERENCE   7  (bases 1 to 2396)
  AUTHORS   Underwood,L.J., Shigemasa,K., Tanimoto,H., Beard,J.B.,
            Schneider,E.N., Wang,Y., Parmley,T.H. and O'Brien,T.J.
  TITLE     Ovarian tumor cells express a novel multi-domain cell surface
            serine protease
  JOURNAL   Biochim Biophys Acta 1502 (3), 337-350 (2000)
   PUBMED   11068177
REFERENCE   8  (bases 1 to 2396)
  AUTHORS   Wallrapp,C., Hahnel,S., Muller-Pillasch,F., Burghardt,B.,
            Iwamura,T., Ruthenburger,M., Lerch,M.M., Adler,G. and Gress,T.M.
  TITLE     A novel transmembrane serine protease (TMPRSS3) overexpressed in
            pancreatic cancer
  JOURNAL   Cancer Res 60 (10), 2602-2606 (2000)
   PUBMED   10825129
REFERENCE   9  (bases 1 to 2396)
  AUTHORS   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.
  TITLE     Linkage of congenital recessive deafness (gene DFNB10) to
            chromosome 21q22.3
  JOURNAL   Am J Hum Genet 58 (6), 1254-1259 (1996)
   PUBMED   8651303
REFERENCE   10 (bases 1 to 2396)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB038157.1, AY358458.1,
            AK172842.1 and AB038159.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_001256317.2.
            
            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 (F) uses an alternate in-frame
            splice site in the central coding region, compared to variant A,
            resulting in an isoform (4) that is 1 aa shorter than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF201380.1, AK172842.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644384.2/ ENSP00000494414.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AB038157.1         40-76
            38-1729             AY358458.1         1-1692
            1730-1834           AK172842.1         1732-1836
            1835-2396           AB038159.1         1544-2105
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2396
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /note="transmembrane serine protease 3"
                     /db_xref="GeneID:64699"
                     /db_xref="HGNC:HGNC:11877"
                     /db_xref="MIM:605511"
     exon            1..111
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            112..256
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..1524
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /EC_number="3.4.21.-"
                     /note="isoform 4 is encoded by transcript variant F;
                     serine protease TADG-12; tumor-associated
                     differentially-expressed gene 12 protein; transmembrane
                     protease, serine 3"
                     /codon_start=1
                     /product="transmembrane protease serine 3 isoform 4"
                     /protein_id="NP_001243246.1"
                     /db_xref="CCDS:CCDS58790.1"
                     /db_xref="GeneID:64699"
                     /db_xref="HGNC:HGNC:11877"
                     /db_xref="MIM:605511"
                     /translation="MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLL
                     PLKFFPIIVIGIIALILALAIGLGIHFDCSGKYRCRSSFKCIELIARCDGVSDCKDGE
                     DEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSS
                     LEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIV
                     GGNMSLLSQWPWQASLQFQGYHLCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVS
                     LLDNPAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPD
                     GKVCWTSGWGATEDGGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGG
                     VDSCQGDSGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERD
                     LKT"
     exon            257..367
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            368..484
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            485..608
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            609..734
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            735..778
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            779..944
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1114
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1210
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1353
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1506
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..2396
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2375..2380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /note="hexamer: AATAAT"
     polyA_site      2396
                     /gene="TMPRSS3"
                     /gene_synonym="DFNB10; DFNB8; ECHOS1; TADG12"
                     /note="major polyA site"
ORIGIN      
        1 aggtcatgcc cgtgtgagcc aggaaagggc tgtgtttatg ggaagccagt aacactgtgg
       61 cctactatct cttccgtggt gccatctaca tttttgggac tcgggaatta tgaggtagag
      121 gtggaggcgg agccggatgt cagaggtcct gaaatagtca ccatggggga aaatgatccg
      181 cctgctgttg aagccccctt ctcattccga tcgctttttg gccttgatga tttgaaaata
      241 agtcctgttg caccagatgc agatgctgtt gctgcacaga tcctgtcact gctgccattg
      301 aagttttttc caatcatcgt cattgggatc attgcattga tattagcact ggccattggt
      361 ctgggcatcc acttcgactg ctcagggaag tacagatgtc gctcatcctt taagtgtatc
      421 gagctgatag ctcgatgtga cggagtctcg gattgcaaag acggggagga cgagtaccgc
      481 tgtgtccggg tgggtggtca gaatgccgtg ctccaggtgt tcacagctgc ttcgtggaag
      541 accatgtgct ccgatgactg gaagggtcac tacgcaaatg ttgcctgtgc ccaactgggt
      601 ttcccaagct atgtgagttc agataacctc agagtgagct cgctggaggg gcagttccgg
      661 gaggagtttg tgtccatcga tcacctcttg ccagatgaca aggtgactgc attacaccac
      721 tcagtatatg tgagggaggg atgtgcctct ggccacgtgg ttaccttgca gtgcacagcc
      781 tgtggtcata gaaggggcta cagctcacgc atcgtgggtg gaaacatgtc cttgctctcg
      841 cagtggccct ggcaggccag ccttcagttc cagggctacc acctgtgcgg gggctctgtc
      901 atcacgcccc tgtggatcat cactgctgca cactgtgttt atgacttgta cctccccaag
      961 tcatggacca tccaggtggg tctagtttcc ctgttggaca atccagcccc atcccacttg
     1021 gtggagaaga ttgtctacca cagcaagtac aagccaaaga ggctgggcaa tgacatcgcc
     1081 cttatgaagc tggccgggcc actcacgttc aatgaaatga tccagcctgt gtgcctgccc
     1141 aactctgaag agaacttccc cgatggaaaa gtgtgctgga cgtcaggatg gggggccaca
     1201 gaggatggag gtgacgcctc ccctgtcctg aaccacgcgg ccgtcccttt gatttccaac
     1261 aagatctgca accacaggga cgtgtacggt ggcatcatct ccccctccat gctctgcgcg
     1321 ggctacctga cgggtggcgt ggacagctgc cagggggaca gcggggggcc cctggtgtgt
     1381 caagagagga ggctgtggaa gttagtggga gcgaccagct ttggcatcgg ctgcgcagag
     1441 gtgaacaagc ctggggtgta cacccgtgtc acctccttcc tggactggat ccacgagcag
     1501 atggagagag acctaaaaac ctgaagagga aggggacaag tagccacctg agttcctgag
     1561 gtgatgaaga cagcccgatc ctcccctgga ctcccgtgta ggaacctgca cacgagcaga
     1621 cacccttgga gctctgagtt ccggcaccag tagcaggccc gaaagaggca cccttccatc
     1681 tgattccagc acaaccttca agctgctttt tgttttttgt ttttttgaga tggagtctcg
     1741 ctctgttgcc caggctggag tgcagtggcg aaatccctgc tcactgcagc ctccgcttcc
     1801 ctggttcaag cgattctctt gcctcagctt ccccagtagc tgggaccaca ggtgcccgcc
     1861 accacaccca actaattttt gtatttttag tagagacagg gtttcaccat gttggccagg
     1921 ctgctctcaa acccctgacc tcaaatgatg tgcctgcttc agcctcccac agtgctggga
     1981 ttacaggcat gggccaccac gcctagcctc acgctccttt ctgatcttca ctaagaacaa
     2041 aagaagcagc aacttgcaag ggcggccttt cccactggtc catctggttt tctctccagg
     2101 ggtcttgcaa aattcctgac gagataagca gttatgtgac ctcacgtgca aagccaccaa
     2161 cagccactca gaaaagacgc accagcccag aagtgcagaa ctgcagtcac tgcacgtttt
     2221 catctctagg gaccagaacc aaacccaccc tttctacttc caagacttat tttcacatgt
     2281 ggggaggtta atctaggaat gactcgttta aggcctattt tcatgatttc tttgtagcat
     2341 ttggtgcttg acgtattatt gtcctttgat tccaaataat atgtttcctt ccctca
//
