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TNNC1 (troponin C1, slow skeletal and cardiac type)

Identity

Alias_namesTNNC
troponin C type 1 (slow)
Other aliasCMD1Z
CMH13
TN-C
TNC
HGNC (Hugo) TNNC1
LocusID (NCBI) 7134
Atlas_Id 55584
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52451091 and ends at 52454041 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EIF4B (12q13.13) / TNNC1 (3p21.1)KITLG (12q21.32) / TNNC1 (3p21.1)SOX4 (6p22.3) / TNNC1 (3p21.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TNNC1   11943
LRG (Locus Reference Genomic)LRG_378
Cards
Entrez_Gene (NCBI)TNNC1  7134  troponin C1, slow skeletal and cardiac type
AliasesCMD1Z; CMH13; TN-C; TNC; 
TNNC
GeneCards (Weizmann)TNNC1
Ensembl hg19 (Hinxton)ENSG00000114854 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114854 [Gene_View]  chr3:52451091-52454041 [Contig_View]  TNNC1 [Vega]
ICGC DataPortalENSG00000114854
TCGA cBioPortalTNNC1
AceView (NCBI)TNNC1
Genatlas (Paris)TNNC1
WikiGenes7134
SOURCE (Princeton)TNNC1
Genetics Home Reference (NIH)TNNC1
Genomic and cartography
GoldenPath hg38 (UCSC)TNNC1  -     chr3:52451091-52454041 -  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNC1  -     3p21.1   [Description]    (hg19-Feb_2009)
EnsemblTNNC1 - 3p21.1 [CytoView hg19]  TNNC1 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBITNNC1 [Mapview hg19]  TNNC1 [Mapview hg38]
OMIM191040   611879   613243   
Gene and transcription
Genbank (Entrez)AF020769 AJ574625 AK313743 BC030244 CR541865
RefSeq transcript (Entrez)NM_003280
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TNNC1
Cluster EST : UnigeneHs.118845 [ NCBI ]
CGAP (NCI)Hs.118845
Alternative Splicing GalleryENSG00000114854
Gene ExpressionTNNC1 [ NCBI-GEO ]   TNNC1 [ EBI - ARRAY_EXPRESS ]   TNNC1 [ SEEK ]   TNNC1 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7134
GTEX Portal (Tissue expression)TNNC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63316   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP63316  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63316
Splice isoforms : SwissVarP63316
PhosPhoSitePlusP63316
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)    EF-hand_8 (PF13833)   
Domain families : Pfam (NCBI)pfam13499    pfam13833   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)TNNC1
DMDM Disease mutations7134
Blocks (Seattle)TNNC1
PDB (SRS)1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
PDB (PDBSum)1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
PDB (IMB)1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
PDB (RSDB)1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
Structural Biology KnowledgeBase1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
SCOP (Structural Classification of Proteins)1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
CATH (Classification of proteins structures)1AP4    1IH0    1J1D    1J1E    1LXF    1MXL    1OZS    1SPY    1WRK    1WRL    2JT0    2JT3    2JT8    2JTZ    2JXL    2KDH    2KFX    2KGB    2KRD    2L1R    2L98    2MKP    2MLE    2MLF    2MZP    2N79    2N7L    3RV5    3SD6    3SWB    4GJE    4GJF    4GJG    4Y99   
SuperfamilyP63316
Human Protein AtlasENSG00000114854
Peptide AtlasP63316
HPRD08930
IPIIPI00470359   IPI00792280   
Protein Interaction databases
DIP (DOE-UCLA)P63316
IntAct (EBI)P63316
FunCoupENSG00000114854
BioGRIDTNNC1
STRING (EMBL)TNNC1
ZODIACTNNC1
Ontologies - Pathways
QuickGOP63316
Ontology : AmiGOdiaphragm contraction  skeletal muscle contraction  calcium ion binding  protein binding  cytosol  troponin complex  regulation of muscle contraction  regulation of muscle contraction  response to metal ion  transition between fast and slow fiber  muscle filament sliding  troponin I binding  troponin I binding  troponin T binding  regulation of muscle filament sliding speed  protein homodimerization activity  regulation of ATPase activity  calcium-dependent protein binding  actin filament binding  actin filament binding  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac muscle contraction  cardiac Troponin complex  
Ontology : EGO-EBIdiaphragm contraction  skeletal muscle contraction  calcium ion binding  protein binding  cytosol  troponin complex  regulation of muscle contraction  regulation of muscle contraction  response to metal ion  transition between fast and slow fiber  muscle filament sliding  troponin I binding  troponin I binding  troponin T binding  regulation of muscle filament sliding speed  protein homodimerization activity  regulation of ATPase activity  calcium-dependent protein binding  actin filament binding  actin filament binding  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac muscle contraction  cardiac Troponin complex  
Pathways : KEGGCalcium signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkTNNC1
Atlas of Cancer Signalling NetworkTNNC1
Wikipedia pathwaysTNNC1
Orthology - Evolution
OrthoDB7134
GeneTree (enSembl)ENSG00000114854
Phylogenetic Trees/Animal Genes : TreeFamTNNC1
HOVERGENP63316
HOGENOMP63316
Homologs : HomoloGeneTNNC1
Homology/Alignments : Family Browser (UCSC)TNNC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNNC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNNC1
dbVarTNNC1
ClinVarTNNC1
1000_GenomesTNNC1 
Exome Variant ServerTNNC1
ExAC (Exome Aggregation Consortium)TNNC1 (select the gene name)
Genetic variants : HAPMAP7134
Genomic Variants (DGV)TNNC1 [DGVbeta]
DECIPHERTNNC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTNNC1 
Mutations
ICGC Data PortalTNNC1 
TCGA Data PortalTNNC1 
Broad Tumor PortalTNNC1
OASIS PortalTNNC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNNC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTNNC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TNNC1
DgiDB (Drug Gene Interaction Database)TNNC1
DoCM (Curated mutations)TNNC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNNC1 (select a term)
intoGenTNNC1
Cancer3DTNNC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191040    611879    613243   
Orphanet635   
MedgenTNNC1
Genetic Testing Registry TNNC1
NextProtP63316 [Medical]
TSGene7134
GENETestsTNNC1
Huge Navigator TNNC1 [HugePedia]
snp3D : Map Gene to Disease7134
BioCentury BCIQTNNC1
ClinGenTNNC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7134
Chemical/Pharm GKB GenePA36632
Clinical trialTNNC1
Miscellaneous
canSAR (ICR)TNNC1 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNNC1
EVEXTNNC1
GoPubMedTNNC1
iHOPTNNC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:41:41 CEST 2017

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