TPM1

(Tropomyosin 1(alpha))

 

  • Alias                                 (According to NCBI)

 
  • CMH3
  • TMSA
  • tropomyosin 1 (alpha)
  • Tropomyosin 1 alpha chain (Alpha-tropomyosin).
  • 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. Tropoymyosin 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.
  • Location: 15q22.1
  • Orientation: plus strand
  • Size: 23405 bp
  • 9 exons
  • DNA sequence (Human): NC_000015.

 

  • CGH (15q22.1): Losses (%) -1.7   Gain (%)  7.3  

  • Mutations and SNPs  (According to HGMD and SNP)

 
  • m-RNA                           (According to NCBI and CGAP)

 
  • Size: 284 amino acids; 32708 Da
  • Catalytic activity:

  • Subcellular location: intracellular, cytoplasm

  • Protein domains

  •        ENSP00000288398

        

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions: 2992N
  • Clinical                            (According to OMIM, PubMed)