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Aliases for TNNC1 Gene

Aliases for TNNC1 Gene

  • Troponin C Type 1 (Slow) 2 3
  • CMD1Z 3 6
  • CMH13 3 6
  • TNNC 3 4
  • TN-C 3 4
  • Slow Twitch Skeletal/Cardiac Muscle Troponin C 3
  • Troponin C, Slow Skeletal And Cardiac Muscles 3
  • Cardiac Troponin C 3
  • Troponin C1, Slow 3
  • Troponin C, Slow 2
  • TNC 3

External Ids for TNNC1 Gene

Previous Symbols for TNNC1 Gene

  • TNNC

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 C Type 1 (Slow)) is a Protein Coding gene. Diseases associated with TNNC1 include tnnc1-related dilated cardiomyopathy and cardiomyopathy, dilated, 1z. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. 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

Genomic Location for TNNC1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNNC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNC1 Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TNNC1 Gene

Domains for TNNC1 Gene

Gene Families for TNNC1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for TNNC1 Gene

UniProtKB/Swiss-Prot:

TNNC1_HUMAN
Domain:
  • Contains 4 EF-hand domains.:
    • P63316
Family:
  • Belongs to the troponin C family.:
    • P63316
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:0005509 calcium ion binding IDA 12840750
GO:0005515 protein binding IPI 10806205
GO:0031013 troponin I binding IPI 11735257
GO:0031014 troponin T binding IPI 15542288
GO:0042803 protein homodimerization activity IDA 18092822
genes like me logo Genes that share ontologies with TNNC1: view

miRNA for TNNC1 Gene

miRTarBase miRNAs that target TNNC1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4
nucleus 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TNNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA 10850966
genes like me logo Genes that share ontologies with TNNC1: view

Pathways 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:0006937 regulation of muscle contraction TAS 2250022
GO:0010038 response to metal ion IEA --
GO:0030049 muscle filament sliding TAS --
GO:0032972 regulation of muscle filament sliding speed ISS --
genes like me logo Genes that share ontologies with TNNC1: view

Compounds for TNNC1 Gene

(1) HMDB Compounds for TNNC1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(8) Drugbank Compounds for TNNC1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
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
target
Bepridil
64706-54-3 target other
Calcium
target agonist
Dihydroxyaluminium
13682-92-3 target stimulator
Felodipine
  • Dl-Felodipine
72509-76-3 target other

(2) Novoseek inferred chemical compound relationships for TNNC1 Gene

Compound -log(P) Hits PubMed IDs
actomyosin 67 2
calcium 25.7 14
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 (24.0), Heart - Left Ventricle (20.3), and Heart - Atrial Appendage (7.3).

Integrated Proteomics: protein expression 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 expressions with TNNC1: view

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 36
  • 99.59 (n)
  • 100 (a)
TNNC1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNC1 36
  • 95.24 (n)
  • 99.38 (a)
TNNC1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNNC1 36
  • 92.96 (n)
  • 99.38 (a)
TNNC1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnnc1 36
  • 91.1 (n)
  • 99.38 (a)
Tnnc1 16
Tnnc1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNNC1 37
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNNC1 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnnc1 36
  • 92.13 (n)
  • 99.38 (a)
chicken
(Gallus gallus)
Aves TNNC1 36
  • 87.37 (n)
  • 98.76 (a)
TNNC1 37
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNNC1 37
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2228 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15708 36
tnnc1 36
  • 83.23 (n)
  • 96.27 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11373 36
zebrafish
(Danio rerio)
Actinopterygii tnnc1 36
tnnc1a 36
  • 80.95 (n)
  • 89.44 (a)
tnnc1a 37
  • 90 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11165 37
  • 34 (a)
ManyToMany
CG31958 37
  • 29 (a)
ManyToMany
CG31960 37
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cal-1 37
  • 37 (a)
ManyToMany
cal-2 37
  • 38 (a)
ManyToMany
cal-3 37
  • 28 (a)
ManyToMany
cal-4 37
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 37
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2940 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10163 37
  • 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 MAF
rs3755810 -- 52,453,084(-) GGGGT(G/T)GGGAC intron-variant
rs12497158 -- 52,450,919(+) CAGGG(A/C)AGGCC downstream-variant-500B
rs41292360 -- 52,451,148(+) GGAGG(A/G)AGTCG utr-variant-3-prime
rs41292362 -- 52,453,249(+) CCACC(C/T)AGGAT intron-variant
rs55995010 -- 52,453,254(+) CAGGA(C/T)AGAAT intron-variant

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

Relevant External Links for TNNC1 Gene

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

Disorders for TNNC1 Gene

(2) OMIM Diseases for TNNC1 Gene (191040)

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.

(2) University of Copenhagen DISEASES for TNNC1 Gene

Relevant External Links for TNNC1

GeneTests
TNNC1
GeneReviews
TNNC1
Genetic Association Database (GAD)
TNNC1
Human Genome Epidemiology (HuGE) Navigator
TNNC1
genes like me logo Genes that share disorders with TNNC1: view

Publications for TNNC1 Gene

  1. Differential expression of slow and fast skeletal muscle troponin C. Slow skeletal muscle troponin C is expressed in human fibroblasts. (PMID: 3166492) Gahlmann R. … Kedes L. (J. Mol. Biol. 1988) 3 4
  2. The amino acid sequence of human cardiac troponin-C. (PMID: 3951483) Roher A. … Spitz W. (Muscle Nerve 1986) 3 4
  3. Structural and functional domains of the troponin complex revealed by limited digestion. (PMID: 9219516) Takeda S. … Maeda Y. (Eur. J. Biochem. 1997) 3 4
  4. Calcium-induced structural transition in the regulatory domain of human cardiac troponin C. (PMID: 9315850) Spyracopoulos L. … Sykes B.D. (Biochemistry 1997) 3 4
  5. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. (PMID: 11385718) Hoffmann B. … Gessner R. (Hum. Mutat. 2001) 3 4

Products for TNNC1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate TNNC1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for TNNC1
    • Block miRNA regulation of TNNC1 using miScript Target Protectors

    Sources for TNNC1 Gene

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