TNNC1 (troponin C1, slow skeletal and cardiac type)

Gene

• Entrez ID: 7134
• Gene name: Troponin C1, slow skeletal and cardiac type
• Gene symbol: TNNC1
• Synonyms: CMD1Z, CMH13, TN-C, TNC, TNNC
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893823	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267607123	A>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267607124	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs267607126	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514616	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs730881058	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881059	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs730881061	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881062	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs876661393	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs886039440	C>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017278	hsa-miR-335-5p	Microarray	18185580
MIRT627380	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT627381	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT627382	hsa-miR-3686	HITS-CLIP	23824327
MIRT627383	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT627384	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT627385	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT627386	hsa-miR-3137	HITS-CLIP	23824327
MIRT627387	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT627388	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT627389	hsa-miR-3606-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002086	Process	Diaphragm contraction	IEA
GO:0003009	Process	Skeletal muscle contraction	IBA	21873635
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	12840750, 18092822
GO:0005515	Function	Protein binding	IPI	10806205, 12840750, 21988832, 29997244, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA	21873635
GO:0005861	Component	Troponin complex	IDA	10850966, 12093807
GO:0006937	Process	Regulation of muscle contraction	IBA	21873635
GO:0006937	Process	Regulation of muscle contraction	IDA	18092822
GO:0006937	Process	Regulation of muscle contraction	TAS	2250022
GO:0010038	Process	Response to metal ion	IEA
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0030049	Process	Muscle filament sliding	TAS
GO:0031013	Function	Troponin I binding	IDA	18092822
GO:0031013	Function	Troponin I binding	IPI	7957210, 11735257, 15542288
GO:0031014	Function	Troponin T binding	IPI	8205619, 15542288
GO:0032972	Process	Regulation of muscle filament sliding speed	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	18092822
GO:0043462	Process	Regulation of ATPase activity	ISS
GO:0048306	Function	Calcium-dependent protein binding	IBA	21873635
GO:0048306	Function	Calcium-dependent protein binding	IPI	7957210
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	15542288
GO:0060048	Process	Cardiac muscle contraction	IDA	25771144
GO:0060048	Process	Cardiac muscle contraction	IMP	15542288
GO:1990584	Component	Cardiac Troponin complex	IDA	25771144

Other IDs

• MIM: 191040
• HGNC: 11943
• e!Ensembl: ENSG00000114854

Protein

• UniProt ID: P63316
• Protein name: Troponin C, slow skeletal and cardiac muscles (TN-C)
• Protein 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.
• PDB: 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, 5VLN, 5W88, 5WCL, 6KN7, 6KN8, 6MV3, 7JGI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13833	EF-hand_8	32 → 84	EF-hand domain pair	Domain
  PF13499	EF-hand_7	94 → 158	EF-hand domain pair	Domain
  PF00036	EF-hand_1	132 → 160	EF hand	Domain

• Sequence:

  MDDIYKAAVEQLTEEQKNEFKAAFDIFVLGAEDGCISTKELGKVMRMLGQNPTPEELQEM
  IDEVDEDGSGTVDFDEFLVMMVRCMKDDSKGKSEEELSDLFRMFDKNADGYIDLDELKIM
  LQATGETITEDDIEELMKDGDKNNDGRIDYDEFLEFMKGVE

• Sequence length: 161