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Description for Protein TTN

titin
30 total interacting proteins; 16 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(platelet: 3)
Summary:
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. A N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere respectively so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Of the many titin variants identified, five for which complete transcript information is available are described. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9 and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • IGC2: Immunoglobulin C-2 Type
  • FN3: Fibronectin type 3 domain
  • IG: Immunoglobulin
  • CC: Coiled Coil
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
  • FN2: Fibronectin type 2 domain
  • IGV: Immunoglobulin V-Type
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.1
    KEGG - Orthology:
    K12567
    KEGG - Pathway(s):
    hsa05410; hsa05414
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Titin isoform N2-B; Connectin; CMH9; CMD1G; CMPD4; FLJ32040; LGMD2J; TMD; Cardiomyopathy, dilated 1G (autosomal dominant); Titin isoform N2-A; Titin isoform novex-2; Titin isoform novex-3; Titin isoform novex-1
    Approved Symbol:
    TTN
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 373
    Human (de-) phosphorylation sites: 373; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 1
    Human phosphorylation targets: 1; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cardiomyopathy, dilated, 1g(Pd);
  • Cardiomyopathy, familial hypertrophic, 9(Pd);
  • Hereditary myopathy with early respiratory failure(Pd);
  • Tibial muscular dystrophy, tardive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01787 Entrez Gene ID: 7273 OMIM ID: 188840 Swissprot Accession: Q8WZ42; Q4ZG20;