LOCUS       NM_001395513            3576 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens transmembrane serine protease 9 (TMPRSS9), transcript
            variant 5, mRNA.
ACCESSION   NM_001395513
VERSION     NM_001395513.1
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 3576)
  AUTHORS   Chen,C.A., Pal,R., Yin,J., Tao,H., Amawi,A., Sabo,A.,
            Bainbridge,M.N., Gibbs,R.A., Zoghbi,H.Y. and Schaaf,C.P.
  TITLE     Combination of whole exome sequencing and animal modeling
            identifies TMPRSS9 as a candidate gene for autism spectrum disorder
  JOURNAL   Hum Mol Genet 29 (3), 459-470 (2020)
   PUBMED   31943016
  REMARK    GeneRIF: Combination of whole exome sequencing and animal modeling
            identifies TMPRSS9 as a candidate gene for autism spectrum
            disorder.
REFERENCE   2  (bases 1 to 3576)
  AUTHORS   Fontanil,T., Mohamedi,Y., Esteban,M.M., Obaya,A.J. and Cal,S.
  TITLE     Polyserase-1/TMPRSS9 induces pro-tumor effects in pancreatic cancer
            cells by activation of pro-uPA
  JOURNAL   Oncol Rep 31 (6), 2792-2796 (2014)
   PUBMED   24756697
  REMARK    GeneRIF: These effects were mediated by the efficient conversion of
            pro-uPA to active uPA and high phosphorylation levels of ERK
            detected in the PANC-1 cells expressing exogenous polyserase-1.
REFERENCE   3  (bases 1 to 3576)
  AUTHORS   Aragam,N., Wang,K.S., Anderson,J.L. and Liu,X.
  TITLE     TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide
            association study in a European sample
  JOURNAL   J Mol Neurosci 50 (2), 250-256 (2013)
   PUBMED   23229837
  REMARK    GeneRIF: SNP rs4806846 in TMPRSS9 gene is associated with
            neuroticism in a European sample.
REFERENCE   4  (bases 1 to 3576)
  AUTHORS   Okumura,Y., Hayama,M., Takahashi,E., Fujiuchi,M., Shimabukuro,A.,
            Yano,M. and Kido,H.
  TITLE     Serase-1B, a new splice variant of polyserase-1/TMPRSS9, activates
            urokinase-type plasminogen activator and the proteolytic activation
            is negatively regulated by glycosaminoglycans
  JOURNAL   Biochem J 400 (3), 551-561 (2006)
   PUBMED   16872279
  REMARK    GeneRIF: The isolation and characterization of serase-1B, a splice
            variant of polyserase-1, is reported (accession AB109390.1).
REFERENCE   5  (bases 1 to 3576)
  AUTHORS   Cal,S., Quesada,V., Garabaya,C. and Lopez-Otin,C.
  TITLE     Polyserase-I, a human polyprotease with the ability to generate
            independent serine protease domains from a single translation
            product
  JOURNAL   Proc Natl Acad Sci U S A 100 (16), 9185-9190 (2003)
   PUBMED   12886014
  REMARK    GeneRIF: Polyserase-I is a human polyprotease with the ability to
            generate independent serine protease domains from a single
            translation product
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004410.1, AC011542.9 and
            AC011522.8.
            
            Summary: The protein encoded by this gene is a membrane-bound type
            II serine polyprotease that is cleaved to release three different
            proteases. Two of the proteases are active and can be inhibited by
            serine protease inhibitors, and one is thought to be catalytically
            inactive. This gene enhances the invasive capability of pancreatic
            cancer cells and may be involved in cancer progression. [provided
            by RefSeq, Jul 2016].
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000696167.1/ ENSP00000512457.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                AC004410.1         20711-20806
            97-263              AC011542.9         15413-15579
            264-391             AC011542.9         22191-22318
            392-459             AC011542.9         24447-24514
            460-635             AC011542.9         24670-24845
            636-677             AC011542.9         27627-27668
            678-791             AC011542.9         28734-28847
            792-963             AC011542.9         31026-31197
            964-1238            AC011542.9         34008-34282
            1239-1375           AC011542.9         35910-36046
            1376-1694           AC011542.9         39352-39670
            1695-1866           AC011522.8         6918-7089
            1867-2138           AC011522.8         7786-8057
            2139-2275           AC011522.8         9250-9386
            2276-2669           AC011522.8         13102-13495
            2670-2838           AC011522.8         15337-15505
            2839-3104           AC011522.8         16250-16515
            3105-3241           AC011522.8         16605-16741
            3242-3576           AC011522.8         17175-17509
FEATURES             Location/Qualifiers
     source          1..3576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3576
                     /gene="TMPRSS9"
                     /note="transmembrane serine protease 9"
                     /db_xref="GeneID:360200"
                     /db_xref="HGNC:HGNC:30079"
                     /db_xref="MIM:610477"
     exon            1..96
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            97..263
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..3403
                     /gene="TMPRSS9"
                     /note="isoform 3 is encoded by transcript variant 5;
                     polyserase-1; polyserase-I; polyserine protease 1;
                     transmembrane protease, serine 9"
                     /codon_start=1
                     /product="transmembrane protease serine 9 isoform 3"
                     /protein_id="NP_001382442.1"
                     /db_xref="CCDS:CCDS92484.1"
                     /db_xref="GeneID:360200"
                     /db_xref="HGNC:HGNC:30079"
                     /db_xref="MIM:610477"
                     /translation="MEPTVADVHLVPRTTKEVPALDAACCRAASIGVVATSLVVLTLG
                     VLLAFLSTQGFHVDHTAELRGIRWTSSLRRETSDYHRTLTPTLEALFVSSFQKTELEA
                     SCVGCSVLNYRDGNSSVLVHFQLHFLLRPLQTLSLGLEEELLQRGIRARLREHGISLA
                     AYGTIVSAELTGRHKGPLAERDFKSGRCPGNSFSCGNSQCVTKVNPECDDQEDCSDGS
                     DEAHCECGLQPAWRMAGRIVGGMEASPGEFPWQASLRENKEHFCGAAIINARWLVSAA
                     HCFNEFQDPTKWVAYVGATYLSGSEASTVRAQVVQIVKHPLYNADTADFDVAVLELTS
                     PLPFGRHIQPVCLPAATHIFPPSKKCLISGWGYLKEDFLVKPEVLQKATVELLDQALC
                     ASLYGHSLTDRMVCAGYLDGKVDSCQGDSGGPLVCEEPSGRFFLAGIVSWGIGCAEAR
                     RPGVYARVTRLRDWILEATTKASMPLAPTMAPAPAAPSTAWPTSPESPVVSTPTKSMQ
                     ALSTVPLDWVTVPKLQECGARPAMEKPTRVVGGFGAASGEVPWQVSLKEGSRHFCGAT
                     VVGDRWLLSAAHCFNHTKVEQVRAHLGTASLLGLGGSPVKIGLRRVVLHPLYNPGILD
                     FDLAVLELASPLAFNKYIQPVCLPLAIQKFPVGRKCMISGWGNTQEGNATKPELLQKA
                     SVGIIDQKTCSVLYNFSLTDRMICAGFLEGKVDSCQGDSGGPLACEEAPGVFYLAGIV
                     SWGIGCAQVKKPGVYTRITRLKGWILEIMSSQPLPMSPPSTTRMLATTSPRTTAGLTV
                     PGATPSRPTPGAASRVTGQPANSTLSAVSTTARGQTPFPDAPEATTHTQLPDCGLAPA
                     ALTRIVGGSAAGRGEWPWQVSLWLRRREHRCGAVLVAERWLLSAAHCFDVYGDPKQWA
                     AFLGTPFLSGAEGQLERVARIYKHPFYNLYTLDYDVALLELAGPVRRSRLVRPICLPE
                     PAPRPPDGTRCVITGWGSVREGGSMARQLQKAAVRLLSEQTCRRFYPVQISSRMLCAG
                     FPQGGVDSCSGDAGGPLACREPSGRWVLTGVTSWGYGCGRPHFPGVYTRVAAVRGWIG
                     QHIQE"
     exon            264..391
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            392..459
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            460..635
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            636..677
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            678..791
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            792..963
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1238
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1375
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1694
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1866
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..2138
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2275
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            2276..2669
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            2670..2838
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            2839..3104
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            3105..3241
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     exon            3242..3576
                     /gene="TMPRSS9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3553..3558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPRSS9"
                     /note="hexamer: AATAAA"
     polyA_site      3576
                     /gene="TMPRSS9"
                     /note="major polyA site"
ORIGIN      
        1 agtagcggtg cagcctcgtc gtccggagcg cggtgagtcg gggtctcctg cgggctcagc
       61 ctcccctcgg aacagccccc acttcctcca accccgctcg ctgtctgcgt gtctctgagc
      121 catggagccc actgtggctg acgtacacct cgtgcccagg acaaccaagg aagtccccgc
      181 tctggatgcc gcgtgctgtc gagcggccag cattggcgtg gtggccacca gccttgtcgt
      241 cctcaccctg ggagtccttt tggccttcct ctctacacag ggcttccacg tggaccacac
      301 ggccgagctg cggggaatcc ggtggaccag cagtttgcgg cgggagacct cggactatca
      361 ccgcacgctg acgcccaccc tggaggcact gtttgtaagt agttttcaga agacagagtt
      421 agaggcaagc tgcgtgggtt gctcggtact gaattatagg gatgggaact ccagtgtcct
      481 cgtacatttc cagctgcact ttctgctgcg acccctccag acgctgagcc tgggcctgga
      541 ggaggagcta ttgcagcgag ggatccgggc aaggctgcgg gagcacggca tctccctggc
      601 tgcctatggc acaattgtgt cggctgagct cacagggaga cataagggac ccttggcaga
      661 aagagacttc aaatcaggcc gctgtccagg gaactccttt tcctgcggga acagccagtg
      721 tgtgaccaag gtgaacccgg agtgtgacga ccaggaggac tgctccgatg ggtccgacga
      781 ggcgcactgc gagtgtggct tgcagcctgc ctggaggatg gccggcagga tcgtgggcgg
      841 catggaagca tccccggggg agtttccgtg gcaagccagc cttcgagaga acaaggagca
      901 cttctgtggg gccgccatca tcaacgccag gtggctggtg tctgctgctc actgcttcaa
      961 tgagttccaa gacccgacga agtgggtggc ctacgtgggt gcgacctacc tcagcggctc
     1021 ggaggccagc accgtgcggg cccaggtggt ccagatcgtc aagcaccccc tgtacaacgc
     1081 ggacacggcc gactttgacg tggctgtgct ggagctgacc agccctctgc ctttcggccg
     1141 gcacatccag cccgtgtgcc tcccggctgc cacacacatc ttcccaccca gcaagaagtg
     1201 cctgatctca ggctggggct acctcaagga ggacttcctg gtcaagccag aggtgctgca
     1261 gaaagccact gtggagctgc tggaccaggc actgtgtgcc agcttgtacg gccattcact
     1321 cactgacagg atggtgtgcg ctggctacct ggacgggaag gtggactcct gccagggtga
     1381 ctcaggagga cccctggtct gcgaggagcc ctctggccgg ttctttctgg ctggcatcgt
     1441 gagctgggga atcgggtgtg cggaagcccg gcgtccaggg gtctatgccc gagtcaccag
     1501 gctacgtgac tggatcctgg aggccaccac caaagccagc atgcctctgg cccccaccat
     1561 ggctcctgcc cctgccgccc ccagcacagc ctggcccacc agtcctgaga gccctgtggt
     1621 cagcaccccc accaaatcga tgcaggccct cagtaccgtg cctcttgact gggtcaccgt
     1681 tcctaagcta caagaatgtg gggccaggcc tgcaatggag aagcccaccc gggtcgtggg
     1741 cgggttcgga gctgcctccg gggaggtgcc ctggcaggtc agcctgaagg aagggtcccg
     1801 gcacttctgc ggagcaactg tggtggggga ccgctggctg ctgtctgccg cccactgctt
     1861 caaccacacg aaggtggagc aggttcgggc ccacctgggc actgcgtccc tcctgggcct
     1921 gggcgggagc ccggtgaaga tcgggctgcg gcgggtagtg ctgcaccccc tctacaaccc
     1981 tggcatcctg gacttcgacc tggctgtcct ggagctggcc agccccctgg ccttcaacaa
     2041 atacatccag cctgtctgcc tgcccctggc catccagaag ttccctgtgg gccggaagtg
     2101 catgatctcc ggatggggaa atacgcagga aggaaatgcc accaagcccg agctcctgca
     2161 gaaggcgtcc gtgggcatca tagaccagaa aacctgtagt gtgctctaca acttctccct
     2221 cacagaccgc atgatctgcg caggcttcct ggaaggcaaa gtcgactcct gccagggtga
     2281 ctctgggggc cccctggcct gcgaggaggc ccctggcgtg ttttatctgg cagggatcgt
     2341 gagctggggt attggctgcg ctcaggttaa gaagccgggc gtgtacacgc gcatcaccag
     2401 gctaaagggc tggatcctgg agatcatgtc ctcccagccc cttcccatgt ctcccccctc
     2461 gaccacaagg atgctggcca ccaccagccc caggacgaca gctggcctca cagtcccggg
     2521 ggccacaccc agcagaccca cccctggggc tgccagcagg gtgacgggcc aacctgccaa
     2581 ctcaacctta tctgccgtga gcaccactgc taggggacag acgccatttc cagacgcccc
     2641 ggaggccacc acacacaccc agctaccaga ctgtggcctg gcgccggccg cgctcaccag
     2701 gattgtgggc ggcagcgcag cgggccgtgg ggagtggccg tggcaggtga gcctgtggct
     2761 gcggcgccgg gaacaccgtt gcggggccgt gctggtggca gagaggtggc tgctgtcggc
     2821 ggcgcactgc ttcgacgtct acggggaccc caagcagtgg gcggccttcc taggcacgcc
     2881 gttcctgagc ggcgcggagg ggcagctgga gcgcgtggcg cgcatctaca agcacccgtt
     2941 ctacaatctc tacacgctcg actacgacgt ggcgctgctg gagctggcgg ggccggtgcg
     3001 tcgcagccgc ctggtgcgtc ccatctgcct gcccgagccc gcgccgcgac ccccggacgg
     3061 cacgcgctgc gtcatcaccg gctggggctc ggtgcgcgaa ggaggctcca tggcgcggca
     3121 gctgcagaag gcggccgtgc gcctcctcag cgagcagacc tgccgccgct tctacccagt
     3181 gcagatcagc agccgcatgc tgtgtgccgg cttcccgcag ggtggcgtgg acagctgctc
     3241 gggtgacgct gggggacccc tggcctgcag ggagccctct ggacggtggg tgctaactgg
     3301 ggtcactagc tggggctatg gctgtggccg gccccacttc ccaggtgtct atacccgggt
     3361 ggcagctgtg agaggctgga taggacagca catccaggag tgaccaccac gtgactgccc
     3421 aggccgagac tctacgtgaa agcaacagga gcagcaggcc acccaacacc ccaccccacc
     3481 gtaccctacc caaggacggg tgtggggggg ctgtgggtca tggggatgca ttttggtacc
     3541 accctttgtt ccaataaaca cagcccctcc acccta
//
