LOCUS       NM_003673                960 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens titin-cap (TCAP), mRNA.
ACCESSION   NM_003673
VERSION     NM_003673.4
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 960)
  AUTHORS   Alaei,Z., Zamani,N., Rabbani,B. and Mahdieh,N.
  TITLE     TCAP gene is not a common cause of cardiomyopathy in Iranian
            patients
  JOURNAL   Eur J Med Res 28 (1), 376 (2023)
   PUBMED   37752589
  REMARK    GeneRIF: TCAP gene is not a common cause of cardiomyopathy in
            Iranian patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 960)
  AUTHORS   Lv,X., Lin,F., Wu,W., Wang,H., Luo,Y., Wang,Z., Yan,C., Lv,H.,
            Luo,S. and Lin,P.
  TITLE     The clinical features and TCAP mutation spectrum in a Chinese
            cohort of patients with limb-girdle muscular dystrophy R7
  JOURNAL   Hum Mol Genet 32 (15), 2502-2510 (2023)
   PUBMED   37216648
  REMARK    GeneRIF: The clinical features and TCAP mutation spectrum in a
            Chinese cohort of patients with limb-girdle muscular dystrophy R7.
REFERENCE   3  (bases 1 to 960)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 960)
  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   5  (bases 1 to 960)
  AUTHORS   Mues,A., van der Ven,P.F., Young,P., Furst,D.O. and Gautel,M.
  TITLE     Two immunoglobulin-like domains of the Z-disc portion of titin
            interact in a conformation-dependent way with telethonin
  JOURNAL   FEBS Lett 428 (1-2), 111-114 (1998)
   PUBMED   9645487
REFERENCE   6  (bases 1 to 960)
  AUTHORS   Valle,G., Faulkner,G., De Antoni,A., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Tiso,N., Toppo,S., Trevisan,S. and Lanfranchi,G.
  TITLE     Telethonin, a novel sarcomeric protein of heart and skeletal muscle
  JOURNAL   FEBS Lett 415 (2), 163-168 (1997)
   PUBMED   9350988
REFERENCE   7  (bases 1 to 960)
  AUTHORS   Moreira,E.S., Vainzof,M., Marie,S.K., Sertie,A.L., Zatz,M. and
            Passos-Bueno,M.R.
  TITLE     The seventh form of autosomal recessive limb-girdle muscular
            dystrophy is mapped to 17q11-12
  JOURNAL   Am J Hum Genet 61 (1), 151-159 (1997)
   PUBMED   9245996
REFERENCE   8  (bases 1 to 960)
  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   9  (bases 1 to 960)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (bases 1 to 960)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA899335.1 and AJ000491.1.
            
            On Aug 31, 2019 this sequence version replaced NM_003673.3.
            
            Summary: Sarcomere assembly is regulated by the muscle protein
            titin. Titin is a giant elastic protein with kinase activity that
            extends half the length of a sarcomere. It serves as a scaffold to
            which myofibrils and other muscle related proteins are attached.
            This gene encodes a protein found in striated and cardiac muscle
            that binds to the titin Z1-Z2 domains and is a substrate of titin
            kinase, interactions thought to be critical to sarcomere assembly.
            Mutations in this gene are associated with limb-girdle muscular
            dystrophy type 2G. [provided by RefSeq, Jul 2008].
            
            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 :: BC012628.1, AJ000491.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309889.3/ ENSP00000312624.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-551               DA899335.1         4-554
            552-960             AJ000491.1         551-959
FEATURES             Location/Qualifiers
     source          1..960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..960
                     /gene="TCAP"
                     /gene_synonym="CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE;
                     telethonin"
                     /note="titin-cap"
                     /db_xref="GeneID:8557"
                     /db_xref="HGNC:HGNC:11610"
                     /db_xref="MIM:604488"
     exon            1..121
                     /gene="TCAP"
                     /gene_synonym="CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE;
                     telethonin"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..515
                     /gene="TCAP"
                     /gene_synonym="CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE;
                     telethonin"
                     /note="limb girdle muscular dystrophy 2G (autosomal
                     recessive); 19 kDa sarcomeric protein; titin cap protein;
                     teneurin C-terminal associated peptide"
                     /codon_start=1
                     /product="telethonin"
                     /protein_id="NP_003664.1"
                     /db_xref="CCDS:CCDS11342.1"
                     /db_xref="GeneID:8557"
                     /db_xref="HGNC:HGNC:11610"
                     /db_xref="MIM:604488"
                     /translation="MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEED
                     TQRHETYHQQGQCQVLVQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGAT
                     KEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSM
                     SQEAQRG"
     exon            122..960
                     /gene="TCAP"
                     /gene_synonym="CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE;
                     telethonin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      936..941
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCAP"
                     /gene_synonym="CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE;
                     telethonin"
                     /note="hexamer: AATAAA"
     polyA_site      960
                     /gene="TCAP"
                     /gene_synonym="CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE;
                     telethonin"
                     /note="major polyA site"
ORIGIN      
        1 gaggagtgat catggctacc tcagagctga gctgcgaggt gtcggaggag aactgtgagc
       61 gccgggaggc cttctgggca gaatggaagg atctgacact gtccacacgg cccgaggagg
      121 gctgctccct gcatgaggag gacacccaga gacatgagac ctaccaccag caggggcagt
      181 gccaggtgct ggtgcagcgc tcgccctggc tgatgatgcg gatgggcatc ctcggccgtg
      241 ggctgcagga gtaccagctg ccctaccagc gggtactgcc gctgcccatc ttcacccctg
      301 ccaagatggg cgccaccaag gaggagcgtg aggacacccc catccagctt caggagctgc
      361 tggcgctgga gacagccctg ggtggccagt gtgtggaccg ccaggaggtg gctgagatca
      421 caaagcagct gccccctgtg gtgcctgtca gcaagcccgg tgcacttcgt cgctccctgt
      481 cccgctccat gtcccaggaa gcacagagag gctgagaggg actgtgactt gggctccgct
      541 gtgcccgccc tgggctgggc ccttcctggc taggactgtg gaggggagct gctggccatg
      601 gctgctttgt agtttgccca gagttggggg ctaggggagg ggggagccag aggccaggat
      661 gcctgagccc cctgagttcc caaagggagg gtggcagaga cagtgggcac taagggtgga
      721 gagttggggg ccagcacagc tgaggaccct cagccccagg agaagggaca aaaggtactg
      781 gtgagggcaa gaggtgcctg ggaggagtgg ccctgatcca ggaaaatgtg aggggaatct
      841 ggaacgctct aggcagaaga agctgggagg gagggggagg tgaaaagggc agaggcaagg
      901 atggtggggc ccccagcacc ctctgttagt gccgcaataa atgctcaatc atgtgccaga
//
