LOCUS       NP_599031                915 aa            linear   PRI 28-APR-2025
DEFINITION  smoothelin isoform b [Homo sapiens].
ACCESSION   NP_599031
VERSION     NP_599031.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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  (residues 1 to 915)
  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 (residues 1 to 915)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..915
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..915
                     /product="smoothelin isoform b"
                     /calculated_mol_wt=98789
     Region          1..34
                     /region_name="Smoothelin"
                     /note="Smoothelin cytoskeleton protein; pfam12510"
                     /db_xref="CDD:463614"
     Region          73..122
                     /region_name="Smoothelin"
                     /note="Smoothelin cytoskeleton protein; pfam12510"
                     /db_xref="CDD:463614"
     Region          570..619
                     /region_name="Smoothelin"
                     /note="Smoothelin cytoskeleton protein; pfam12510"
                     /db_xref="CDD:463614"
     Region          800..911
                     /region_name="CH_SMTNB"
                     /note="calponin homology (CH) domain found in smoothelin-B
                     and similar proteins; cd21259"
                     /db_xref="CDD:409108"
     Site            order(801,805,855,857..858,861..862,864,873..881,889,
                     891..892,894..895,898..899,902)
                     /site_type="other"
                     /note="putative actin binding site [polypeptide binding]"
                     /db_xref="CDD:409108"
     CDS             1..915
                     /gene="SMTN"
                     /coded_by="NM_134269.3:220..2967"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS13888.1"
                     /db_xref="GeneID:6525"
                     /db_xref="HGNC:HGNC:11126"
                     /db_xref="MIM:602127"
ORIGIN      
        1 madealagld egalrkllev tadlaerrri rsairelqrq elereeeala skrfraerqd
       61 nkenwlhsqq reaeqraala rlagqlesmn dveeltallr sageyeerkl iraairrvra
      121 qeieaatlag rlysgrpnsg sredskglaa hrleqcevpe reeqeqqaev skptptpegt
      181 sqdvttvtll lrappgstss spaspssspt paspepplep aeaqcltaev pgspepppsp
      241 pkttspepqe sptlpstegq vvnkllsgpk etpaaqsptr gpsdtkradv agprpcqrsl
      301 svlsprqpaq nrestplasg pssfqragsv rdrvhkftsd spmaarlqdg tpqaalsplt
      361 parllgpslt sttpassssg sssrgpsdts srfskeqrgv aqplaqlrsc pqeegprgrg
      421 laarplenra ggpvarseep gaplpvavgt aepggsmktt ftieikdgrg qastgrvllp
      481 tgnqraeltl glrapptlls tssggkstit rvnspgtlar lgsvthvtsf shappssrgg
      541 csikmeaepa eplaaaveaa ngaeqtrvnk apegrsplsa eelmtiedeg vldkmldqst
      601 dfeerklira alrelrqrkr dqrdkererr lqeargrpge grgntatett trhsqraadg
      661 savstvtkte rlvhsndgtr tartttvess fvrrsengsg stmmqtktfs ssssskkmgs
      721 ifdredqasp ragslaalek rqaekkkelm kaqslpktsa sqarkamiek lekegaagsp
      781 ggpraavqrs tsfgvpnans ikqmlldwcr aktrgyehvd iqnfssswsd gmafcalvhn
      841 ffpeafdygq lspqnrrqnf evafssaeth adcpqlldte dmvrlrepdw kcvytyiqef
      901 yrclvqkglv ktkks
//
