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 ... See more...

Aliases for TNNC1 Gene

Aliases for TNNC1 Gene

  • Troponin C1, Slow Skeletal And Cardiac Type 2 3 5
  • Troponin C, Slow Skeletal And Cardiac Muscles 3 4
  • Troponin C Type 1 (Slow) 2 3
  • TN-C 3 4
  • TNNC 3 4
  • Slow Twitch Skeletal/Cardiac Muscle Troponin C 3
  • Cardiac Troponin C 3
  • CMD1Z 3
  • CMH13 3
  • TNNC1 5
  • TNC 3

External Ids for TNNC1 Gene

Previous HGNC Symbols for TNNC1 Gene

  • TNNC

Previous GeneCards Identifiers for TNNC1 Gene

  • GC03M051577
  • GC03M051737
  • GC03M052341
  • GC03M052443
  • GC03M052460
  • GC03M052485

Summaries for TNNC1 Gene

Entrez Gene Summary for TNNC1 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]

GeneCards Summary for TNNC1 Gene

TNNC1 (Troponin C1, Slow Skeletal And Cardiac Type) is a Protein Coding gene. Diseases associated with TNNC1 include Cardiomyopathy, Familial Hypertrophic, 13 and Cardiomyopathy, Dilated, 1Z. Among its related pathways are MFAP5-mediated ovarian cancer cell motility and invasiveness and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is TNNC2.

UniProtKB/Swiss-Prot Summary for TNNC1 Gene

  • Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.

Gene Wiki entry for TNNC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNNC1 Gene

Genomics for TNNC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TNNC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNNC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNNC1

Top Transcription factor binding sites by QIAGEN in the TNNC1 gene promoter:
  • ATF
  • MyoD
  • Pax-4a
  • Pax-5
  • RREB-1
  • Sp1

Genomic Locations for TNNC1 Gene

Latest Assembly
chr3:52,451,100-52,454,041
(GRCh38/hg38)
Size:
2,942 bases
Orientation:
Minus strand

Previous Assembly
chr3:52,485,116-52,488,057
(GRCh37/hg19 by Entrez Gene)
Size:
2,942 bases
Orientation:
Minus strand

chr3:52,485,118-52,488,086
(GRCh37/hg19 by Ensembl)
Size:
2,969 bases
Orientation:
Minus strand

Genomic View for TNNC1 Gene

Genes around TNNC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNC1 Gene

Proteins for TNNC1 Gene

  • Protein details for TNNC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63316-TNNC1_HUMAN
    Recommended name:
    Troponin C, slow skeletal and cardiac muscles
    Protein Accession:
    P63316
    Secondary Accessions:
    • O14800
    • P02590
    • P04463

    Protein attributes for TNNC1 Gene

    Size:
    161 amino acids
    Molecular mass:
    18403 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Cardiac muscle Tn-C can bind 3 calcium ions per molecule. Domain I does not bind calcium.

    Three dimensional structures from OCA and Proteopedia for TNNC1 Gene

neXtProt entry for TNNC1 Gene

Post-translational modifications for TNNC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TNNC1 Gene

Domains & Families for TNNC1 Gene

Gene Families for TNNC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TNNC1 Gene

Suggested Antigen Peptide Sequences for TNNC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94344, Homo sapiens troponin C, slow (TNNC1), mRNA (Q6FH91_HUMAN)
  • Troponin C, slow skeletal and cardiac muscles (TNNC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P63316

UniProtKB/Swiss-Prot:

TNNC1_HUMAN :
  • Belongs to the troponin C family.
Family:
  • Belongs to the troponin C family.
genes like me logo Genes that share domains with TNNC1: view

Function for TNNC1 Gene

Molecular function for TNNC1 Gene

UniProtKB/Swiss-Prot Function:
Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
GENATLAS Biochemistry:
troponin C1,calcium binding subunit,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,cardiac and slow twitch skeletal muscle

Phenotypes From GWAS Catalog for TNNC1 Gene

Gene Ontology (GO) - Molecular Function for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IDA 12840750
GO:0005515 protein binding IPI 10806205
GO:0031013 troponin I binding IDA,IPI 7957210
GO:0031014 troponin T binding IPI 8205619
GO:0042803 protein homodimerization activity IDA 18092822
genes like me logo Genes that share ontologies with TNNC1: view
genes like me logo Genes that share phenotypes with TNNC1: view

Human Phenotype Ontology for TNNC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TNNC1 Gene

Localization for TNNC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNC1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA 10850966
GO:0043292 contractile fiber IEA --
GO:1990584 cardiac Troponin complex IDA 25771144
genes like me logo Genes that share ontologies with TNNC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNC1 Gene

Pathways & Interactions for TNNC1 Gene

genes like me logo Genes that share pathways with TNNC1: view

Pathways by source for TNNC1 Gene

1 GeneGo (Thomson Reuters) pathway for TNNC1 Gene
  • Development Beta-adrenergic receptors signaling via cAMP

Gene Ontology (GO) - Biological Process for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002086 diaphragm contraction IEA --
GO:0003009 skeletal muscle contraction IBA 21873635
GO:0006937 regulation of muscle contraction TAS 2250022
GO:0010038 response to metal ion IEA --
GO:0014883 transition between fast and slow fiber IEA --
genes like me logo Genes that share ontologies with TNNC1: view

No data available for SIGNOR curated interactions for TNNC1 Gene

Drugs & Compounds for TNNC1 Gene

(9) Drugs for TNNC1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Target, other, blocker 0
Levosimendan Approved, Investigational Pharma Target, potentiator, stimulator 0
Felodipine Approved, Investigational Pharma Target, other 24
Trifluoperazine Approved, Investigational Pharma Target 7
5-[1-(3,4-Dimethoxy-Benzoyl)-1,2,3,4-Tetrahydro-Quinolin-6-Yl]-6-Methyl-3,6-Dihydro-[1,3,4]Thiadiazin-2-One Experimental Pharma Target 0

(1) Additional Compounds for TNNC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNNC1: view

Transcripts for TNNC1 Gene

mRNA/cDNA for TNNC1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNC1

Alternative Splicing Database (ASD) splice patterns (SP) for TNNC1 Gene

No ASD Table

Relevant External Links for TNNC1 Gene

GeneLoc Exon Structure for
TNNC1

Expression for TNNC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNNC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNC1 Gene

This gene is overexpressed in Muscle - Skeletal (x24.0), Heart - Left Ventricle (x20.3), and Heart - Atrial Appendage (x7.3).

Protein differential expression in normal tissues from HIPED for TNNC1 Gene

This gene is overexpressed in Heart (46.3) and Fetal heart (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TNNC1 Gene



Protein tissue co-expression partners for TNNC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNNC1

SOURCE GeneReport for Unigene cluster for TNNC1 Gene:

Hs.118845

Evidence on tissue expression from TISSUES for TNNC1 Gene

  • Heart(4.9)
  • Muscle(4.9)
  • Blood(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with TNNC1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for TNNC1 Gene

Orthologs for TNNC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TNNC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TNNC1 29 30
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TNNC1 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TNNC1 29 30
  • 95.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TNNC1 30
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TNNC1 29 30
  • 92.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tnnc1 29
  • 92.13 (n)
Mouse
(Mus musculus)
Mammalia Tnnc1 29 16 30
  • 91.1 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TNNC1 29 30
  • 87.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TNNC1 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tnnc1 29
  • 83.23 (n)
Str.15708 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.2228 29
Zebrafish
(Danio rerio)
Actinopterygii tnnc1a 29 30
  • 80.95 (n)
OneToOne
tnnc1 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11373 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG31960 30
  • 39 (a)
ManyToMany
CG11165 30
  • 34 (a)
ManyToMany
CG31958 30
  • 29 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea cal-2 30
  • 38 (a)
ManyToMany
cal-1 30
  • 37 (a)
ManyToMany
cal-3 30
  • 28 (a)
ManyToMany
cal-4 30
  • 25 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 30
  • 39 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10163 30
  • 56 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2940 29
Species where no ortholog for TNNC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TNNC1 Gene

ENSEMBL:
Gene Tree for TNNC1 (if available)
TreeFam:
Gene Tree for TNNC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNNC1: view image
Alliance of Genome Resources:
Additional Orthologs for TNNC1

Paralogs for TNNC1 Gene

Paralogs for TNNC1 Gene

(29) SIMAP similar genes for TNNC1 Gene using alignment to 3 proteins:

  • TNNC1_HUMAN
  • C9JDI3_HUMAN
  • Q6FH91_HUMAN
genes like me logo Genes that share paralogs with TNNC1: view

Variants for TNNC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNNC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1002556 Uncertain Significance: Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 52,451,853(-) C/T
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser)
MISSENSE
1013482 Likely Benign: not provided 52,452,508(-) C/T
NM_003280.3(TNNC1):c.30G>A (p.Glu10=)
SYNONYMOUS
1014893 Uncertain Significance: Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 52,452,122(-) A/C
NM_003280.3(TNNC1):c.186T>G (p.Asp62Glu)
MISSENSE
1014965 Uncertain Significance: Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 52,451,840(-) A/C
NM_003280.3(TNNC1):c.221T>G (p.Phe74Cys)
MISSENSE
1015264 Uncertain Significance: Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 52,452,183(-) C/T
NM_003280.3(TNNC1):c.125G>A (p.Gly42Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TNNC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TNNC1 Gene

Variant ID Type Subtype PubMed ID
nsv834697 CNV loss 17160897
nsv954860 CNV deletion 24416366

Variation tolerance for TNNC1 Gene

Residual Variation Intolerance Score: 33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNNC1 Gene

Human Gene Mutation Database (HGMD)
TNNC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNC1
Leiden Open Variation Database (LOVD)
TNNC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNC1 Gene

Disorders for TNNC1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TNNC1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 13
  • cmh13
cardiomyopathy, dilated, 1z
  • cmd1z
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
cardiomyopathy, dilated, 1e
  • cmd1e
- elite association - COSMIC cancer census association via MalaCards
Search TNNC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNNC1_HUMAN
  • Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:15542288}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:11385718, ECO:0000269 PubMed:16302972, ECO:0000269 PubMed:18572189, ECO:0000269 PubMed:19439414}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TNNC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TNNC1: view

No data available for Genatlas for TNNC1 Gene

Publications for TNNC1 Gene

  1. Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C. (PMID: 20459070) Swindle N … Tikunova SB (Biochemistry 2010) 3 25 72
  2. A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. (PMID: 19439414) Pinto JR … Potter JD (The Journal of biological chemistry 2009) 3 4 72
  3. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. (PMID: 18572189) Landstrom AP … Ackerman MJ (Journal of molecular and cellular cardiology 2008) 3 4 72
  4. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 15542288) Mogensen J … McKenna WJ (Journal of the American College of Cardiology 2004) 3 4 72
  5. Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations. (PMID: 28533433) Stevens CM … Tibbits GF (The Journal of biological chemistry 2017) 3 72

Products for TNNC1 Gene

Sources for TNNC1 Gene