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Aliases for TNNC1 Gene

Aliases for TNNC1 Gene

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

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, hypertrophic, 13 and cardiomyopathy, dilated, 1z. Among its related pathways are Degradation of the extracellular matrix and MicroRNAs in cancer. GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is CABP2.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNC1 Gene

Genomics for TNNC1 Gene

Regulatory Elements for TNNC1 Gene

Promoters for TNNC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TNNC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNNC1 Gene

Chromosome:
3
Start:
52,451,091 bp from pter
End:
52,454,070 bp from pter
Size:
2,980 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

Proteomics data for TNNC1 Gene at MOPED

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

Protein Domains for TNNC1 Gene

Suggested Antigen Peptide Sequences for TNNC1 Gene

Graphical View of Domain Structure for InterPro Entry

P63316

UniProtKB/Swiss-Prot:

TNNC1_HUMAN :
  • Contains 4 EF-hand domains.
  • Belongs to the troponin C family.
Domain:
  • Contains 4 EF-hand domains.
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

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
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.

Gene Ontology (GO) - Molecular Function for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031013 troponin I binding IPI 7957210
GO:0031014 troponin T binding IPI 8205619
GO:0042803 protein homodimerization activity IDA 18092822
GO:0051015 actin filament binding IEA,ISS --
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

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for TNNC1 Gene COMPARTMENTS Subcellular localization image for TNNC1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
nucleus 5

Gene Ontology (GO) - Cellular Components for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0043292 contractile fiber IEA --
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

Gene Ontology (GO) - Biological Process for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002086 diaphragm contraction IEA --
GO:0010038 response to metal ion IEA --
GO:0032972 regulation of muscle filament sliding speed IEA,ISS --
GO:0060048 cardiac muscle contraction IEA,IMP 15542288
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: DGIdb, DrugBank, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, other 0
Levosimendan Approved, Investigational Pharma stimulator, Target, potentiator 0
Dihydroxyaluminium Approved Pharma Target, stimulator 0
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, other 22
Trifluoperazine Approved Pharma Antagonist, Target 5

(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 :
(6) Additional mRNA sequences :
(298) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TNNC1 Gene

Troponin C type 1 (slow):
Representative Sequences:

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

No ASD Table

Relevant External Links for TNNC1 Gene

GeneLoc Exon Structure for
TNNC1
ECgene alternative splicing isoforms for
TNNC1

Expression for TNNC1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TNNC1 Gene



SOURCE GeneReport for Unigene cluster for TNNC1 Gene Hs.118845

genes like me logo Genes that share expression patterns with TNNC1: view

Protein tissue co-expression partners for TNNC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 99.59 (n)
  • 100 (a)
TNNC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNC1 36
  • 99 (a)
OneToOne
TNNC1 35
  • 95.24 (n)
  • 99.38 (a)
dog
(Canis familiaris)
Mammalia TNNC1 35
  • 92.96 (n)
  • 99.38 (a)
TNNC1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnnc1 36
  • 99 (a)
OneToOne
Tnnc1 16
Tnnc1 35
  • 91.1 (n)
  • 99.38 (a)
oppossum
(Monodelphis domestica)
Mammalia TNNC1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNNC1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnnc1 35
  • 92.13 (n)
  • 99.38 (a)
chicken
(Gallus gallus)
Aves TNNC1 36
  • 99 (a)
OneToOne
TNNC1 35
  • 87.37 (n)
  • 98.76 (a)
lizard
(Anolis carolinensis)
Reptilia TNNC1 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2228 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15708 35
tnnc1 35
  • 83.23 (n)
  • 96.27 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11373 35
zebrafish
(Danio rerio)
Actinopterygii tnnc1a 36
  • 90 (a)
OneToOne
tnnc1 35
tnnc1a 35
  • 80.95 (n)
  • 89.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11165 36
  • 34 (a)
ManyToMany
CG31958 36
  • 29 (a)
ManyToMany
CG31960 36
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cal-1 36
  • 37 (a)
ManyToMany
cal-2 36
  • 38 (a)
ManyToMany
cal-3 36
  • 28 (a)
ManyToMany
cal-4 36
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2940 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10163 36
  • 56 (a)
OneToOne
Species with no ortholog for TNNC1:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for TNNC1 Gene

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

Variants for TNNC1 Gene

Sequence variations from dbSNP and Humsavar for TNNC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_019776 Cardiomyopathy, familial hypertrophic 13 (CMH13)
VAR_043988 Cardiomyopathy, dilated 1Z (CMD1Z)
VAR_063070 Cardiomyopathy, familial hypertrophic 13 (CMH13)
VAR_063071 Cardiomyopathy, familial hypertrophic 13 (CMH13)
VAR_063072 Cardiomyopathy, familial hypertrophic 13 (CMH13)

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

Variant ID Type Subtype PubMed ID
nsv876789 CNV Loss 21882294
nsv834697 CNV Loss 17160897
dgv5137n71 CNV Loss 21882294
nsv876794 CNV Loss 21882294

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)

Relevant External Links for TNNC1 Gene

HapMap Linkage Disequilibrium report
TNNC1
Human Gene Mutation Database (HGMD)
TNNC1

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

Disorders for TNNC1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TNNC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 13
  • cardiomyopathy, familial hypertrophic, 13
cardiomyopathy, dilated, 1z
  • cardiomyopathy, dilated 1z
tnnc1-related dilated cardiomyopathy
tnnc1-related familial hypertrophic cardiomyopathy
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
- 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 mutations 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:18572189}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNNC1

Genetic Association Database (GAD)
TNNC1
Human Genome Epidemiology (HuGE) Navigator
TNNC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNNC1
genes like me logo Genes that share disorders with TNNC1: view

No data available for Genatlas for TNNC1 Gene

Publications for TNNC1 Gene

  1. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger R.E. … Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010) 3 48 67
  2. Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C. (PMID: 20459070) Swindle N. … Tikunova S.B. (Biochemistry 2010) 3 25 26
  3. A dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding. (PMID: 20371872) Dweck D. … Potter J.D. (J. Biol. Chem. 2010) 3 25 26
  4. Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C. (PMID: 20566645) Parvatiyar M.S. … Potter J.D. (J. Biol. Chem. 2010) 3 25 26
  5. Structure of the regulatory N-domain of human cardiac troponin C in complex with human cardiac troponin I147-163 and bepridil. (PMID: 12060657) Wang X. … Sykes B.D. (J. Biol. Chem. 2002) 3 25 26

Products for TNNC1 Gene

Sources for TNNC1 Gene

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