LOCUS       NM_030770               2168 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transmembrane serine protease 5 (TMPRSS5), transcript
            variant 1, mRNA.
ACCESSION   NM_030770
VERSION     NM_030770.4
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 2168)
  AUTHORS   Kariuki,S.N., Ghodke-Puranik,Y., Dorschner,J.M., Chrabot,B.S.,
            Kelly,J.A., Tsao,B.P., Kimberly,R.P., Alarcon-Riquelme,M.E.,
            Jacob,C.O., Criswell,L.A., Sivils,K.L., Langefeld,C.D.,
            Harley,J.B., Skol,A.D. and Niewold,T.B.
  TITLE     Genetic analysis of the pathogenic molecular sub-phenotype
            interferon-alpha identifies multiple novel loci involved in
            systemic lupus erythematosus
  JOURNAL   Genes Immun 16 (1), 15-23 (2015)
   PUBMED   25338677
REFERENCE   2  (bases 1 to 2168)
  AUTHORS   Guipponi,M., Toh,M.Y., Tan,J., Park,D., Hanson,K., Ballana,E.,
            Kwong,D., Cannon,P.Z., Wu,Q., Gout,A., Delorenzi,M., Speed,T.P.,
            Smith,R.J., Dahl,H.H., Petersen,M., Teasdale,R.D., Estivill,X.,
            Park,W.J. and Scott,H.S.
  TITLE     An integrated genetic and functional analysis of the role of type
            II transmembrane serine proteases (TMPRSSs) in hearing loss
  JOURNAL   Hum Mutat 29 (1), 130-141 (2008)
   PUBMED   17918732
REFERENCE   3  (bases 1 to 2168)
  AUTHORS   Mohan,S., Thompson,G.R., Amaar,Y.G., Hathaway,G., Tschesche,H. and
            Baylink,D.J.
  TITLE     ADAM-9 is an insulin-like growth factor binding protein-5 protease
            produced and secreted by human osteoblasts
  JOURNAL   Biochemistry 41 (51), 15394-15403 (2002)
   PUBMED   12484779
  REMARK    GeneRIF: The purified IGF-binding protein-5 (IGFBP-5) protease
            fraction secreted by cultured human osteoblasts has been
            characterized as ADAM9.
REFERENCE   4  (bases 1 to 2168)
  AUTHORS   Yamaguchi,N., Okui,A., Yamada,T., Nakazato,H. and Mitsui,S.
  TITLE     Spinesin/TMPRSS5, a novel transmembrane serine protease, cloned
            from human spinal cord
  JOURNAL   J Biol Chem 277 (9), 6806-6812 (2002)
   PUBMED   11741986
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL538140.3 and BC028065.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030770.3.
            
            Summary: This gene encodes a protein that belongs to the serine
            protease family. Serine proteases are known to be involved in many
            physiological and pathological processes. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB028140.1, SRR3476690.83647.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299882.11/ ENSP00000299882.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-889               AL538140.3         7-895
            890-2168            BC028065.1         723-2001
FEATURES             Location/Qualifiers
     source          1..2168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     gene            1..2168
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /note="transmembrane serine protease 5"
                     /db_xref="GeneID:80975"
                     /db_xref="HGNC:HGNC:14908"
                     /db_xref="MIM:606751"
     exon            1..87
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1458
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /EC_number="3.4.21.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protease, serine 5"
                     /codon_start=1
                     /product="transmembrane protease serine 5 isoform 1"
                     /protein_id="NP_110397.2"
                     /db_xref="CCDS:CCDS44735.1"
                     /db_xref="GeneID:80975"
                     /db_xref="HGNC:HGNC:14908"
                     /db_xref="MIM:606751"
                     /translation="MSLMLDDQPPMEAQYAEEGPGPGIFRAEPGDQQHPISQAVCWRS
                     MRRGCAVLGALGLLAGAGVGSWLLVLYLCPAASQPISGTLQDEEITLSCSEASAEEAL
                     LPALPKTVSFRINSEDFLLEAQVRDQPRWLLVCHEGWSPALGLQICWSLGHLRLTHHK
                     GVNLTDIKLNSSQEFAQLSPRLGGFLEEAWQPRNNCTSGQVVSLRCSECGARPLASRI
                     VGGQSVAPGRWPWQASVALGFRHTCGGSVLAPRWVVTAAHCMHSFRLARLSSWRVHAG
                     LVSHSAVRPHQGALVERIIPHPLYSAQNHDYDVALLRLQTALNFSDTVGAVCLPAKEQ
                     HFPKGSRCWVSGWGHTHPSHTYSSDMLQDTVVPLFSTQLCNSSCVYSGALTPRMLCAG
                     YLDGRADACQGDSGGPLVCPDGDTWRLVGVVSWGRGCAEPNHPGVYAKVAEFLDWIHD
                     TAQDSLL"
     exon            88..190
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            191..289
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            290..412
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            413..548
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            549..662
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            663..706
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            707..869
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1048
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1147
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1290
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1443
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..2168
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2146..2151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /note="hexamer: ATTAAA"
     polyA_site      2168
                     /gene="TMPRSS5"
                     /gene_synonym="SPINESIN"
                     /note="major polyA site"
ORIGIN      
        1 agctttaatc aatgctggcc tgagaacagg agcggaacat tgcctagtag accctgaggc
       61 tttacaacag tgccactgac ccctatgagc ctgatgctgg atgaccaacc ccctatggag
      121 gcccagtatg cagaggaggg cccaggacct gggatcttca gagcagagcc tggagaccag
      181 cagcatccca tttctcaggc agtgtgctgg cgttccatgc gacgtggctg tgcagtgctg
      241 ggagccctgg ggctgctggc cggtgcaggt gttggctcat ggctcctagt gctgtatctg
      301 tgtcctgctg cctctcagcc catttccggg accttgcagg atgaggagat aactttgagc
      361 tgctcagagg ccagcgctga ggaagctctg ctccctgcac ttcccaaaac agtatctttc
      421 agaataaaca gcgaagactt cttgctggaa gcgcaagtga gggatcagcc acgctggctc
      481 ctggtctgcc atgagggctg gagccccgcc ctggggctgc agatctgctg gagccttggg
      541 catctcagac tcactcacca caagggagta aacctcactg acatcaaact caacagttcc
      601 caggagtttg ctcagctctc tcctagactg ggaggcttcc tggaggaggc gtggcagccc
      661 aggaacaact gcacttctgg tcaagttgtt tccctcagat gctctgagtg tggagcgagg
      721 cccctggctt cccggatagt tggtgggcag tctgtggctc ctgggcgctg gccgtggcag
      781 gccagcgtgg ccctgggctt ccggcacacg tgtgggggct ctgtgctagc gccacgctgg
      841 gtggtgactg ctgcacattg tatgcacagt ttcaggctgg cccgcctgtc cagctggcgg
      901 gttcatgcgg ggctggtcag ccacagtgcc gtcaggcccc accaaggggc tctggtggag
      961 aggattatcc cacaccccct ctacagtgcc cagaatcatg actacgacgt cgccctcctg
     1021 aggctccaga ccgctctcaa cttctcagac actgtgggcg ctgtgtgcct gccggccaag
     1081 gaacagcatt ttccgaaggg ctcgcggtgc tgggtgtctg gctggggcca cacccaccct
     1141 agccatactt acagctcgga tatgctccag gacacggtgg tgcccttgtt cagcactcag
     1201 ctctgcaaca gctcttgcgt gtacagcgga gccctcaccc cccgcatgct ttgcgctggc
     1261 tacctggacg gaagggctga tgcatgccag ggagatagcg ggggccccct agtgtgccca
     1321 gatggggaca catggcgcct agtgggggtg gtcagctggg ggcgtggctg cgcagagccc
     1381 aatcacccag gtgtctacgc caaggtagct gagtttctgg actggatcca tgacactgct
     1441 caggactccc tcctctgagt cctgctgttt cctccagtct cactgcacac cactgcctca
     1501 tgcttcctgg ggcctccagc agctccacta atggaggaga ggcagtagcc tccgacacag
     1561 aacgcatgga cctcctacta ctgtgtgtga ggaacagtca ctacccactg gccagccacc
     1621 cagccaacag gtctctcctc ttgggccctg atttcagagt cctctttctc actagagact
     1681 caatgacaga agagaggctg ggacttggtt gggcatgctg tggttgctga gggatgaggg
     1741 ggaggagaga ggtaggagct ggagatgaag aggctgctag aagcagcagg aagcctgccc
     1801 ttctgccctc tcccctccct gcccctgtgt gagtcttttg ggagggtgct gggaggtgcc
     1861 ccccgtccca cctttttcct gtgctctagg tgggctaagt gcctccctag aggactccat
     1921 ggctgagagg ctcctgggca gatggggtca aggctgggcc agcccagatg aagcctatgg
     1981 gagtcaggac cctctccact ctccctctcc actccccttc ctgttctcac ctggctgtgg
     2041 ctggccctgt gtggggtggg tacactggaa aacaagaagg ttggagttgg tctaggacat
     2101 tggttttaaa tgacagttct gtgaactggt ccaaggagtt ctgttattaa agtgatatat
     2161 ggtcttgg
//
