TNNC1

Protein identityUniProt · HPA

UniProt accession

P63316

Gene

TNNC1

Ensembl

ENSG00000114854

Chromosome

3

Canonical length

161 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Actin filaments,Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

161 residues, UniProt reviewed canonical sequence.

>P63316|TNNC1
     1  MDDIYKAAVE QLTEEQKNEF KAAFDIFVLG AEDGCISTKE LGKVMRMLGQ NPTPEELQEM
    61  IDEVDEDGSG TVDFDEFLVM MVRCMKDDSK GKSEEELSDL FRMFDKNADG YIDLDELKIM
   121  LQATGETITE DDIEELMKDG DKNNDGRIDY DEFLEFMKGV E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TNNC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

19,762 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TNNC1.

Disease | AllUniProt

Conditions TNNC1 is implicated in, by any mechanism.

• Cardiomyopathy, dilated, 1Z (CMD1Z) MIM:611879
• Cardiomyopathy, familial hypertrophic, 13 (CMH13) MIM:613243

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 394 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dilated cardiomyopathy 1Z
• Hypertrophic cardiomyopathy 13
• Cardiovascular phenotype
• Hypertrophic cardiomyopathy
• Cardiomyopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.59

gnomAD pLI

0.68

gnomAD missense Z

1.77

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle cell contraction
• cardiac muscle contraction
• diaphragm contraction
• muscle filament sliding
• regulation of muscle contraction
• response to metal ion
• skeletal muscle contraction
• transition between fast and slow fiber
• ventricular cardiac muscle tissue morphogenesis
• regulation of muscle filament sliding speed

Molecular functions

• actin filament binding
• calcium ion binding
• calcium-dependent protein binding
• protein homodimerization activity
• troponin I binding
• troponin T binding

Cellular components

• cardiac Troponin complex
• cytosol
• sarcomere
• troponin complex

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• EF-hand domain pair
• EF-Hand 1, calcium-binding site
• Calmodulin/Myosin light chain/Troponin C-like
• EF-hand domain pair
• EF-hand domain pair

KeywordsUniProt

• Acetylation
• Calcium
• Cardiomyopathy
• Metal-binding
• Muscle protein
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of TNNC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TNNI1
• TNNI2
• TNNI3