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FLASH GENE
Symbol TPM1 contributors: mct/npt - updated : 06-06-2012
HGNC name tropomyosin 1 (alpha)
HGNC id 12010
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer dimer
HOMOLOGY
interspecies homolog to murine Tpm1
Homologene
FAMILY
  • tropomyosin family
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text sarcomeric protein
    basic FUNCTION
  • playing a central role in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing to form a helical coiled coil constituent binding to actin in the troponin complex (thin filament) that regulates calcium-dependent binding of actin and myosin and muscle contraction
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • importance of the NEBL-TPM1 interactions in the maintenance and stability of the thin filaments
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH3 , CMD1Y , LVNC3
    related resource FHC Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer through hypermethylation of and chromatin remodeling
    Susceptibility
  • to metabolic syndrome
  • to clubfoot
    • Variant & Polymorphism other
  • polymorphism in the TPM1 short isoform promoter region is predicted to alter transcription factor binding, alters gene expression and is associated with the metabolic syndrome
  • variants influencing risk for isolated clubfoot
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS