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 si

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
MIRT627389	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT627388	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT627387	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT627386	hsa-miR-3137	HITS-CLIP	23824327
MIRT627385	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT627384	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT627383	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT627382	hsa-miR-3686	HITS-CLIP	23824327
MIRT627381	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT627380	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT627389	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT627388	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT627387	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT627386	hsa-miR-3137	HITS-CLIP	23824327
MIRT627385	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT627384	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT627383	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT627382	hsa-miR-3686	HITS-CLIP	23824327
MIRT627381	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT627380	hsa-miR-4652-3p	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 t
• 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, 7SC2, 7SC3, 7SUP, 7SVC, 7SWG, 7SWI, 7SXC, 7SXD, 7UH9, 7UHA
• 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