LOCUS       NM_001018005            1217 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens tropomyosin 1 (TPM1), transcript variant Tpm1.1, mRNA.
ACCESSION   NM_001018005
VERSION     NM_001018005.2
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 1217)
  AUTHORS   Nefedova,V.V., Kopylova,G.V., Shchepkin,D.V., Kochurova,A.M.,
            Kechko,O.I., Borzova,V.A., Ryabkova,N.S., Katrukha,I.A.,
            Mitkevich,V.A., Bershitsky,S.Y., Levitsky,D.I. and Matyushenko,A.M.
  TITLE     Impact of Troponin in Cardiomyopathy Development Caused by
            Mutations in Tropomyosin
  JOURNAL   Int J Mol Sci 23 (24), 15723 (2022)
   PUBMED   36555368
  REMARK    GeneRIF: Impact of Troponin in Cardiomyopathy Development Caused by
            Mutations in Tropomyosin.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1217)
  AUTHORS   Li,C., Hong,S., Hu,H., Liu,T., Yan,G. and Sun,D.
  TITLE     MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor
            Growth in Colorectal Cancer via Epigenetically Silencing TPM1
  JOURNAL   Mol Cancer Res 20 (11), 1697-1708 (2022)
   PUBMED   35857351
  REMARK    GeneRIF: MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes
            to Tumor Growth in Colorectal Cancer via Epigenetically Silencing
            TPM1.
REFERENCE   3  (bases 1 to 1217)
  AUTHORS   Teekakirikul,P., Zhu,W., Xu,X., Young,C.B., Tan,T., Smith,A.M.,
            Wang,C., Peterson,K.A., Gabriel,G.C., Ho,S., Sheng,Y., Moreau de
            Bellaing,A., Sonnenberg,D.A., Lin,J.H., Fotiou,E., Tenin,G.,
            Wang,M.X., Wu,Y.L., Feinstein,T., Devine,W., Gou,H., Bais,A.S.,
            Glennon,B.J., Zahid,M., Wong,T.C., Ahmad,F., Rynkiewicz,M.J.,
            Lehman,W.J., Keavney,B., Alastalo,T.P., Freckmann,M.L., Orwig,K.,
            Murray,S., Ware,S.M., Zhao,H., Feingold,B. and Lo,C.W.
  TITLE     Genetic resiliency associated with dominant lethal TPM1 mutation
            causing atrial septal defect with high heritability
  JOURNAL   Cell Rep Med 3 (2), 100501 (2022)
   PUBMED   35243414
  REMARK    GeneRIF: Genetic resiliency associated with dominant lethal TPM1
            mutation causing atrial septal defect with high heritability.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1217)
  AUTHORS   Man,Y., Yi,C., Fan,M., Yang,T., Liu,P., Liu,S. and Wang,G.
  TITLE     Identification of a novel missense mutation in the TPM1 gene via
            exome sequencing in a Chinese family with dilated cardiomyopathy: A
            case report and literature review
  JOURNAL   Medicine (Baltimore) 101 (2), e28551 (2022)
   PUBMED   35029218
  REMARK    GeneRIF: Identification of a novel missense mutation in the TPM1
            gene via exome sequencing in a Chinese family with dilated
            cardiomyopathy: A case report and literature review.
            Review article
REFERENCE   5  (bases 1 to 1217)
  AUTHORS   Geeves,M.A., Hitchcock-DeGregori,S.E. and Gunning,P.W.
  TITLE     A systematic nomenclature for mammalian tropomyosin isoforms
  JOURNAL   J Muscle Res Cell Motil 36 (2), 147-153 (2015)
   PUBMED   25369766
  REMARK    Review article
REFERENCE   6  (bases 1 to 1217)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   7  (bases 1 to 1217)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   8  (bases 1 to 1217)
  AUTHORS   Chevray,P.M. and Nathans,D.
  TITLE     Protein interaction cloning in yeast: identification of mammalian
            proteins that react with the leucine zipper of Jun
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5789-5793 (1992)
   PUBMED   1631061
REFERENCE   9  (bases 1 to 1217)
  AUTHORS   Lees-Miller,J.P. and Helfman,D.M.
  TITLE     The molecular basis for tropomyosin isoform diversity
  JOURNAL   Bioessays 13 (9), 429-437 (1991)
   PUBMED   1796905
  REMARK    Review article
REFERENCE   10 (bases 1 to 1217)
  AUTHORS   Mak,A., Smillie,L.B. and Barany,M.
  TITLE     Specific phosphorylation at serine-283 of alpha tropomyosin from
            frog skeletal and rabbit skeletal and cardiac muscle
  JOURNAL   Proc Natl Acad Sci U S A 75 (8), 3588-3592 (1978)
   PUBMED   278975
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG107949.1, M19713.1,
            BC007433.2 and AC079328.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001018005.1.
            
            Summary: This gene is a member of the tropomyosin family of highly
            conserved, widely distributed actin-binding proteins involved in
            the contractile system of striated and smooth muscles and the
            cytoskeleton of non-muscle cells. Tropomyosin is composed of two
            alpha-helical chains arranged as a coiled-coil. It is polymerized
            end to end along the two grooves of actin filaments and provides
            stability to the filaments. The encoded protein is one type of
            alpha helical chain that forms the predominant tropomyosin of
            striated muscle, where it also functions in association with the
            troponin complex to regulate the calcium-dependent interaction of
            actin and myosin during muscle contraction. In smooth muscle and
            non-muscle cells, alternatively spliced transcript variants
            encoding a range of isoforms have been described. Mutations in this
            gene are associated with type 3 familial hypertrophic
            cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq,
            Jun 2022].
            
            Transcript Variant: This variant (Tpm1.1, also known as variant 1)
            represents the shortest transcript. It encodes the longest isoform
            (Tpm1.1st), also known as the fast skeletal muscle isoform.
            
            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 :: SRR5189655.79996.1,
                                           SRR5189655.55392.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403994.9/ ENSP00000385107.4
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                BG107949.1         116-180
            66-568              M19713.1           39-541
            569-569             BC007433.2         627-627
            570-1132            M19713.1           543-1105
            1133-1217           AC079328.11        158613-158697
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.2"
     gene            1..1217
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /note="tropomyosin 1"
                     /db_xref="GeneID:7168"
                     /db_xref="HGNC:HGNC:12010"
                     /db_xref="MIM:191010"
     exon            1..197
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..938
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /note="isoform Tpm1.1st is encoded by transcript variant
                     Tpm1.1; cardiomyopathy, hypertrophic 3; tropomyosin
                     alpha-1 chain; sarcomeric tropomyosin kappa; epididymis
                     secretory protein Li 265"
                     /codon_start=1
                     /product="tropomyosin alpha-1 chain isoform Tpm1.1st"
                     /protein_id="NP_001018005.1"
                     /db_xref="CCDS:CCDS45273.1"
                     /db_xref="GeneID:7168"
                     /db_xref="HGNC:HGNC:12010"
                     /db_xref="MIM:191010"
                     /translation="MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELV
                     SLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRA
                     QERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
                     KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKE
                     DRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
                     ALNDMTSI"
     exon            198..323
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            324..457
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            458..575
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            576..646
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            647..722
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            723..785
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            786..855
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            856..934
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1217
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1113..1118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /note="hexamer: AATAAA"
     polyA_site      1132
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /note="major polyA site"
     regulatory      1189..1194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
                     /note="hexamer: AATAAA"
     polyA_site      1217
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265;
                     HTM-alpha; LVNC9; TMSA"
ORIGIN      
        1 gctcgcactc ccgctcctcc gcccgaccgc gcgctcgccc cgccgctcct gctgcagccc
       61 cagggcccct cgccgccgcc accatggacg ccatcaagaa gaagatgcag atgctgaagc
      121 tcgacaagga gaacgccttg gatcgagctg agcaggcgga ggccgacaag aaggcggcgg
      181 aagacaggag caagcagctg gaagatgagc tggtgtcact gcaaaagaaa ctcaagggca
      241 ccgaagatga actggacaaa tactctgagg ctctcaaaga tgcccaggag aagctggagc
      301 tggcagagaa aaaggccacc gatgctgaag ccgacgtagc ttctctgaac agacgcatcc
      361 agctggttga ggaagagttg gatcgtgccc aggagcgtct ggcaacagct ttgcagaagc
      421 tggaggaagc tgagaaggca gcagatgaga gtgagagagg catgaaagtc attgagagtc
      481 gagcccaaaa agatgaagaa aaaatggaaa ttcaggagat ccaactgaaa gaggccaagc
      541 acattgctga agatgccgac cgcaaatatg aagaggtggc ccgtaagctg gtcatcattg
      601 agagcgacct ggaacgtgca gaggagcggg ctgagctctc agaaggcaaa tgtgccgagc
      661 ttgaagaaga attgaaaact gtgacgaaca acttgaagtc actggaggct caggctgaga
      721 agtactcgca gaaggaagac agatatgagg aagagatcaa ggtcctttcc gacaagctga
      781 aggaggctga gactcgggct gagtttgcgg agaggtcagt aactaaattg gagaaaagca
      841 ttgatgactt agaagacgag ctgtacgctc agaaactgaa gtacaaagcc atcagcgagg
      901 agctggacca cgctctcaac gatatgactt ccatataagt ttctttgctt cacttctccc
      961 aagactccct cgtcgagctg gatgtcccac ctctctgagc tctgcatttg tctattctcc
     1021 agctgaccct ggttctctct cttagcatcc tgccttagag ccaggcacac actgtgcttt
     1081 ctattgtaca gaagctcttc gtttcagtgt caaataaaca ctgtgtaagc tatttctgtt
     1141 tgctattctt tttacttctt atttattgac attttagttt caacattgaa taaaactaca
     1201 aagctgcttc acacata
//
