LOCUS       NM_134269               3296 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens smoothelin (SMTN), transcript variant 2, mRNA.
ACCESSION   NM_134269
VERSION     NM_134269.3
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 3296)
  AUTHORS   Mihai,I.M., Olteanu,G.E., Herman,D., Anderco,D., Iacob,M.,
            Nataras,B., Cumpanas,A.A., Bardan,R. and Dema,A.
  TITLE     Analysis of Tumor Depth Invasion With Anti-Smoothelin Antibody in
            Equivocal Transurethral Resection of Urinary Bladder Tumor Surgical
            Specimens
  JOURNAL   Int J Surg Pathol 29 (1), 54-63 (2021)
   PUBMED   33090031
  REMARK    GeneRIF: Analysis of Tumor Depth Invasion With Anti-Smoothelin
            Antibody in Equivocal Transurethral Resection of Urinary Bladder
            Tumor Surgical Specimens.
REFERENCE   2  (bases 1 to 3296)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3296)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3296)
  AUTHORS   Aneiros-Fernandez,J., Retamero,J.A., Husein-ElAhmed,H., Carriel,V.,
            Ruiz Villaverde,R., O'Valle,F. and Aneiros-Cachaza,J.
  TITLE     Smoothelin and WT-1 expression in glomus tumors and glomuvenous
            malformations
  JOURNAL   Histol Histopathol 32 (2), 153-160 (2017)
   PUBMED   27184662
  REMARK    GeneRIF: Smoothelin is a specific marker for smooth muscle cells
            with contractile capacity which has not been widely studied in
            glomus lesions. in this study, glomic cells showed cytoplasmic
            positivity for smoothelin. Smoothelin expression in glomic cells
            indicates that they are contractile smooth muscle cells, and thus
            its role in routine diagnosis should be considered.
REFERENCE   5  (bases 1 to 3296)
  AUTHORS   Roberts,J.A., Waters,L., Ro,J.Y. and Zhai,Q.J.
  TITLE     Smoothelin and caldesmon are reliable markers for distinguishing
            muscularis propria from desmoplasia: a critical distinction for
            accurate staging colorectal adenocarcinoma
  JOURNAL   Int J Clin Exp Pathol 7 (2), 792-796 (2014)
   PUBMED   24551305
  REMARK    GeneRIF: Caldesmon and smoothelin staining allows better
            delineation of the muscularis propria from the desmoplastic stromal
            reaction which provides a critical aide for proper staging of
            colonic adenocarcinomas.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3296)
  AUTHORS   Kramer,J., Aguirre-Arteta,A.M., Thiel,C., Gross,C.M., Dietz,R.,
            Cardoso,M.C. and Leonhardt,H.
  TITLE     A novel isoform of the smooth muscle cell differentiation marker
            smoothelin
  JOURNAL   J Mol Med (Berl) 77 (2), 294-298 (1999)
   PUBMED   10023782
  REMARK    Erratum:[J Mol Med 1999 Apr;77(4):399]
REFERENCE   7  (bases 1 to 3296)
  AUTHORS   Luft,F.C.
  TITLE     Differentiating one smooth operator from another
  JOURNAL   J Mol Med (Berl) 77 (2), 255-257 (1999)
   PUBMED   10023778
  REMARK    Review article
REFERENCE   8  (bases 1 to 3296)
  AUTHORS   Engelen,J.J., Esterling,L.E., Albrechts,J.C., Detera-Wadleigh,S.D.
            and van Eys,G.J.
  TITLE     Assignment of the human gene for smoothelin (SMTN) to chromosome
            22q12 by fluorescence in situ hybridization and radiation hybrid
            mapping
  JOURNAL   Genomics 43 (2), 245-247 (1997)
   PUBMED   9244445
REFERENCE   9  (bases 1 to 3296)
  AUTHORS   van Eys,G.J., Voller,M.C., Timmer,E.D., Wehrens,X.H., Small,J.V.,
            Schalken,J.A., Ramaekers,F.C. and van der Loop,F.T.
  TITLE     Smoothelin expression characteristics: development of a smooth
            muscle cell in vitro system and identification of a vascular
            variant
  JOURNAL   Cell Struct Funct 22 (1), 65-72 (1997)
   PUBMED   9113392
REFERENCE   10 (bases 1 to 3296)
  AUTHORS   van der Loop,F.T., Schaart,G., Timmer,E.D., Ramaekers,F.C. and van
            Eys,G.J.
  TITLE     Smoothelin, a novel cytoskeletal protein specific for smooth muscle
            cells
  JOURNAL   J Cell Biol 134 (2), 401-411 (1996)
   PUBMED   8707825
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC342566.1, BC034237.2 and
            Z49989.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_134269.2.
            
            Summary: This gene encodes a structural protein that is found
            exclusively in contractile smooth muscle cells. It associates with
            stress fibers and constitutes part of the cytoskeleton. This gene
            is localized to chromosome 22q12.3, distal to the TUPLE1 locus and
            outside the DiGeorge syndrome deletion. Alternative splicing of
            this gene results in multiple transcript variants encoding distinct
            isoforms. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (2) has an alternate 5' exon,
            which results in a downstream AUG start codon, lacks an in-frame
            exon in the middle region and has an additional exon in the 3'
            region, compared to variant 4. The resulting isoform (b, also
            referred to as L2 and B2) is shorter at the N-terminus, lacks a
            segment in the middle region and has a slightly shorter and
            distinct C-terminus, compared to isoform d.
            
            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 :: SRR7346977.1367479.1, BC034237.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333137.12/ ENSP00000329532.7
            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
            1-536               DC342566.1         23-558
            537-1857            BC034237.2         527-1847
            1858-2402           Z49989.2           314-858
            2403-3296           BC034237.2         2393-3286
FEATURES             Location/Qualifiers
     source          1..3296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..3296
                     /gene="SMTN"
                     /note="smoothelin"
                     /db_xref="GeneID:6525"
                     /db_xref="HGNC:HGNC:11126"
                     /db_xref="MIM:602127"
     exon            1..139
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            140..270
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..2967
                     /gene="SMTN"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="smoothelin isoform b"
                     /protein_id="NP_599031.1"
                     /db_xref="CCDS:CCDS13888.1"
                     /db_xref="GeneID:6525"
                     /db_xref="HGNC:HGNC:11126"
                     /db_xref="MIM:602127"
                     /translation="MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELER
                     EEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSA
                     GEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPE
                     REEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPL
                     EPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQ
                     SPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRV
                     HKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSR
                     FSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGT
                     AEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKST
                     ITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQT
                     RVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRD
                     KERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTA
                     RTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEK
                     RQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNA
                     NSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNR
                     RQNFEVAFSSAETHADCPQLLDTEDMVRLREPDWKCVYTYIQEFYRCLVQKGLVKTKK
                     S"
     exon            271..419
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            420..513
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            514..592
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            593..690
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            691..1011
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1084
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1156
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1678
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1851
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..2004
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2005..2080
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2081..2245
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2246..2308
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..2378
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2379..2552
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2553..2670
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2671..2822
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2823..2987
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     exon            2988..3296
                     /gene="SMTN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3274..3279
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMTN"
                     /note="hexamer: GATAAA"
     polyA_site      3296
                     /gene="SMTN"
                     /note="major polyA site"
ORIGIN      
        1 gcagaatcca ggggacggtt gctgagcggg cctgggacag cgggtcgcgg cacctccggc
       61 ctgcgcgtgt ctaatccgtc tgtcgggtcc cgaaagagct aagccgagcc tgcgccggac
      121 gggtgggctg gactgagaga attctctgag ctggtgacag gtgccacagg cactggggat
      181 ctcaccagaa aggaaccgac ggagctaggg gccagcgaga tggcggacga ggccttagct
      241 gggctggatg agggagccct tcggaagctg ctggaggtca cagcagatct ggcagagcgg
      301 cggcgcatcc gctcagccat ccgggaactg cagcggcagg agctggagcg cgaggaggag
      361 gccctggcat ccaagcgttt ccgtgccgag cggcaggaca acaaggagaa ctggctgcac
      421 tctcagcagc gggaagctga gcagcgggct gccctggcac ggctggcagg gcagctggag
      481 tccatgaacg atgtggagga attgactgca ctgttgcgaa gcgctggtga gtatgaggag
      541 cgcaagctga tccgagctgc catccgccgt gtacgggctc aggagattga ggctgccacc
      601 ttggctggga ggttgtacag cgggcgtccc aacagtggct caagagagga cagcaagggg
      661 ctagcggcac acaggctgga acagtgtgag gtgccagagc gagaggaaca ggaacagcag
      721 gcagaggttt caaagccaac ccccacccct gaaggcacca gccaggatgt gaccacagtg
      781 acactcctgc tgcgagcccc acctgggagc acatccagct cacctgcctc acccagcagt
      841 tcacccaccc ctgcctctcc tgagcctcca ttggagcctg ccgaggccca gtgccttaca
      901 gctgaggttc caggcagccc agagccaccc cccagcccac ccaagaccac cagccctgag
      961 cctcaggagt ctccaacgct ccccagcact gagggccagg tggtcaacaa gcttctgtct
     1021 ggccccaaag agacccctgc tgcccagagc cccaccagag gcccctctga caccaagaga
     1081 gcagacgtgg ctggaccccg accctgccaa cgctccctgt cggtgctcag cccccgccaa
     1141 ccagcccaga accgagagtc cacccccctt gccagcggac cttcctcatt ccagcgggct
     1201 ggctctgtgc gggatcgtgt ccacaagttc acatctgatt ctcctatggc tgctaggctc
     1261 caggatggca caccccaggc tgccctaagt cccctgaccc ccgcaaggct cctgggcccc
     1321 tccctcacca gcaccacccc tgcctcctcc tccagcggct cctcctctcg gggccccagt
     1381 gatacctcct cccggttcag caaggagcaa cgaggagtag cccagcccct ggcccagctt
     1441 cgaagctgcc cccaggagga gggccccagg gggcggggct tggctgctag gccccttgaa
     1501 aacagagcag gggggcctgt ggcacgttca gaggagcctg gtgccccgct gcccgtggcc
     1561 gtcggcactg ccgagccagg gggcagtatg aagaccacat tcaccatcga gatcaaggac
     1621 ggccgtggcc aggcctccac aggccgggtg ctgctgccca caggcaacca gagggcagaa
     1681 ctgacactgg ggctgcgggc gcccccgacc ctactcagca ccagtagtgg gggcaagagc
     1741 accatcaccc gtgtcaacag ccctgggacc ctggctcggc tgggcagtgt cactcatgtc
     1801 accagcttca gccatgcccc ccccagtagc cgaggaggct gcagcatcaa gatggaagca
     1861 gagccagcag agcctctcgc tgcagcagtg gaagcggcca atggggctga gcagacccga
     1921 gtgaacaaag caccagaagg gcggagccct ctgagcgctg aggagctgat gactattgag
     1981 gatgaaggag tcttggacaa gatgctggat cagagcacgg actttgaaga gcggaagctc
     2041 atccgggctg cacttcgtga gctccgacaa aggaagagag accagcggga caaggagcgg
     2101 gaacggcggc tgcaggaggc acggggccgg ccaggggagg ggcgcggcaa cacagccact
     2161 gagaccacca cgaggcacag ccagcgggca gctgatggct ctgctgtcag cactgttacc
     2221 aagactgagc ggctcgtcca ctccaatgat ggcacacgga cggcccgcac caccacagtg
     2281 gagtcgagtt tcgtgaggcg ctcggagaat ggcagtggca gcaccatgat gcaaaccaag
     2341 accttctcct cttcctcctc atccaagaag atgggcagca tcttcgaccg cgaggaccag
     2401 gccagcccac gggccggcag cctggcggcg ctcgagaaac ggcaggccga gaagaagaaa
     2461 gagctgatga aggcgcagag tctgcccaag acctcagcct cccaggcgcg caaggccatg
     2521 attgagaagc tggagaagga gggcgcggcc ggcagccctg gcggaccccg cgcagccgtg
     2581 cagcgatcca ccagcttcgg ggtccccaac gccaacagca tcaagcagat gctgctggac
     2641 tggtgtcgag ccaagactcg cggctacgag cacgtcgaca tccagaactt ctcctccagc
     2701 tggagtgatg ggatggcctt ctgtgccctg gtgcacaact tcttccctga ggccttcgac
     2761 tatgggcagc ttagccctca gaaccgacgc cagaacttcg aggtggcctt ctcatctgcg
     2821 gagacccatg cggactgccc gcagctcctg gatacagagg acatggtgcg gcttcgagag
     2881 cctgactgga agtgcgtgta cacgtacatc caggaattct accgctgtct ggtccagaag
     2941 gggctggtaa aaaccaaaaa gtcctaaccc ctgctcgggg ccccacggat gctggtggac
     3001 tgtgtgcccc tggtggaggt ggacgacatg atgatcatgg gcaagaagcc tgaccccaag
     3061 tgtgtcttca cctatgtgca gtcgctctac aaccacctgc gacgccacga actgcgcctg
     3121 cgcggcaaga atgtctagcc tgcccgcccg catggccagc cagtggcaag ctgccgcccc
     3181 cactctccgg gcaccgtctc ctgcctgtgc gtccgcccac cgctgccctg tctgttgcga
     3241 caccctcccc cccacataca cacgcagcgt tttgataaat tattggtttt caacga
//
