Version: 8.0.0
Date: Tue Jan 28 2025
TNNC1
Homo sapiensHGNC:11943
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TNNC1

Species
Homo sapiens
Symbol
TNNC1
Name
troponin C1, slow skeletal and cardiac type
Synonyms
  • cardiac troponin C
  • CMD1Z
Biotype
protein coding gene
Automated Description
Enables several functions, including calcium-dependent protein binding activity; cytoskeletal protein binding activity; and protein homodimerization activity. Involved in cardiac muscle contraction; regulation of muscle contraction; and ventricular cardiac muscle tissue morphogenesis. Part of cardiac Troponin complex. Implicated in dilated cardiomyopathy 1Z; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 13.
RGD Description
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23048
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TNNC1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            TNNC1 role
            TNNC1 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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