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FLASH GENE
Symbol TPM1 contributors: mct/npt - updated : 06-06-2012
HGNC name tropomyosin 1 (alpha)
HGNC id 12010
Corresponding disease
CMD1Y cardiomyopathy, dilated 1Y
CMH3 cardiomyopathy, familial, hypertrophic, 3
LVNC3 noncompaction of left ventricular myocardium, familial isolated 3
Location 15q22.2      Physical location : 63.334.837 - 63.364.111
Synonym name
  • sarcomeric tropomyosin kappa
  • chromosome 15 open reading frame 13
  • alpha-tropomyosin
  • Synonym symbol(s) TMSA, HTM-alpha, TPM1-alpha, TPM1-kappa, C15orf13, CMH3
    DNA
    TYPE functioning gene
    STRUCTURE 29.30 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D15S161 - D15S209 - D15S159 /TPM1 - D15S1196 - qter
    Authors Tiso (97)
    Physical map
    LOC390590 15 similar to RAR-related orphan receptor A isoform a; RAR-related orphan receptor alpha; retinoic acid receptor-related orphan receptor alpha; transcription factor RZR-alpha; ROR-alpha FLJ20136 LOC145741 15q21.3 hypothetical LOC145741 LOC390591 15 similar to nucleophosmin LOC388125 15 similar to hypothetical LOC237397 FLJ38723 15q21.3 hypothetical protein FLJ38723 TLN2 15q15-q21 talin 2 LOC390592 15 similar to TSH receptor suppressor element-binding protein-1; TSEP-1 TPM1 15q22.1 tropomyosin 1 (alpha) LACTB 15q22.1 lactamase, beta RPS27L 15q21.3 ribosomal protein S27-like LOC51762 PSFL 15q22.1 anterior pharynx defective 1B-like LOC388126 15 LOC388126 FLJ20151 15q22.1 hypothetical protein FLJ20151 CA12 15q22 carbonic anhydrase XII USP3 15q22.3 ubiquitin specific protease 3 LOC390593 15 similar to RIKEN cDNA 1110004B15 HERC1 15q22 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 DAPK2 15q22.1 death-associated protein kinase 2 FLJ22875 15q22.1 hypothetical protein FLJ22875 SNX1 15q22-q23 sorting nexin 1 SNX22 20q12-13.1 sorting nexin 22 PPIB 15q21-q22 peptidylprolyl isomerase B (cyclophilin B) CSNK1G1 15q22.1-q22.31 casein kinase 1, gamma 1 KIAA0101 15q22.1 casein kinase 1, gamma 1 TRIP4 15q22.1 thyroid hormone receptor interactor 4 KIAA0295 15q21.3-q22.1 thyroid hormone receptor interactor 4 OAZ2 15q22 ornithine decarboxylase antizyme 2 RBPMS2 15q22.1 RNA-binding protein with multiple splicing 2 FLJ22692 15q22.1 hypothetical protein FLJ22692 pp9099 15q22.1 PH domain-containing protein LOC348094 15q22.2 hypothetical protein LOC348094 ACP33 15q21-q22 hypothetical protein LOC348094
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1797 - 284 - 1999 10343096
    - - 1566 - 245 - 1999 10343096
    TMBr-3 brain isoform
    9 - 1797 - 284 the smooth muscle isoform 1999 10343096
    10 - 1246 - 284 fast skeletal muscle isoform 1999 10343096
    9 - 1797 - 284 - 1999 10343096
    TM-3 fibroblast isoform
    10 - 1294 - 284 - 1999 10343096
    9 - 1797 - 284 - 1999 10343096
    9 - 858 - 284 expressed in cardiac tissues 2010 20065163
  • TPM1kappa
  • contains exon 2a instead of 2b
  • expressed and incorporated into organized myofibrils in hearts and its level is increased in dilated cardiomyopathy and heart failure
  • - - 858 - 284 specific to striated muscle 1999 10343096
  • 10 exons: 1a, 2b, 3, 4, 5, 6b, 7, 8, and 9a/b
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularsmooth   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    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