TNNC1 - troponin C1, slow skeletal and cardiac type Gene

Also Known as TNC; TN-C; TNNC; CMD1Z; CMH13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7134

About TNNC1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,451,100-52,454,041 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 5 phenotypes. Restricted expression toward heart (RPKM 1964.8).

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]

TNNC1 Products (1)

mRNA Protein Name
NM_003280.3 NP_003271.1 troponin C, slow skeletal and cardiac muscles
Molecular Function GO Annotation Evidence References Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
12840750 GOA
enables calcium-dependent protein binding IPI
IPI: Inferred from physical interaction
7957210 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10806205 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18092822 GOA
enables troponin I binding IDA
IDA: Inferred from direct assay
18092822 GOA
enables troponin I binding IPI
IPI: Inferred from physical interaction
7957210 GOA
enables troponin T binding IPI
IPI: Inferred from physical interaction
8205619 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle contraction IDA
IDA: Inferred from direct assay
25771144 GOA
involved in cardiac muscle contraction IMP
IMP: Inferred from mutant phenotype
15542288 GOA
involved in regulation of muscle contraction IDA
IDA: Inferred from direct assay
18092822 GOA
involved in ventricular cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
15542288 GOA
Cellular Component GO Annotation Evidence References Source
part of cardiac Troponin complex IDA
IDA: Inferred from direct assay
25771144 GOA
part of troponin complex IDA
IDA: Inferred from direct assay
10850966 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNNC1 Protein Structure

EF-hand_8

EF-hand_8: EF-hand domain pair (32 - 83)

EF-hand_7

EF-hand_7: EF-hand domain pair (97 - 157)

  • 0
  • 100
  • 161 a.a.
Protein Preferred Names Protein Names

troponin C, slow skeletal and cardiac muscles

  • cardiac troponin C

TNNC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TNNC1 P63316 TNNI3 Homo sapiens P19429 12840750
Intra
TNNC1 P63316 TNNI2 Homo sapiens P48788
NMR
24333682
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TNNC1 Proteins

Cat. No. Product Name Accession Purity
HY-P71372 Troponin C/TNNC1 Protein, Human (His, solution) P63316 (M1-E161) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P71372A Troponin C/TNNC1 Protein, Human (N-His) P63316 (M1-E161) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 13
  • Hypertrophic Cardiomyopathy 13

  • CMH13

  • Cardiomyopathy, Hypertrophic, 13

  • Cardiomyopathy Familial Hypertrophic 13

  • Cardiomyopathy, Familial Hypertrophic 13

  • Cardiomyopathy, Hypertrophic, Familial, Type 13

Cardiomyopathy, Dilated, 1z
  • CMD1Z

  • Dilated Cardiomyopathy 1z

  • Cardiomyopathy, Dilated 1z

  • Cardiomyopathy, Dilated, Type 1z

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 1e
  • Left Ventricular Noncompaction 9

  • Left Ventricular Noncompaction 5

  • Dilated Cardiomyopathy 1e

  • Dilated Cardiomyopathy 1s

  • CMD1E

  • Cdcd2

  • Cardiomyopathy, Dilated, 1y

  • CMD1Y

  • Cardiomyopathy, Dilated, 1s

  • CMD1S

  • Dilated Cardiomyopathy 1y

  • Dilated Cardiomyopathy With Conduction Defect 2

  • Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Defect 2

  • Cardiomyopathy Dilated With Conduction Defect Type 2

  • Cardiomyopathy, Dilated 1e

  • Cardiomyopathy, Dilated 1s

  • Cardiomyopathy, Dilated 1y

  • Left Ventricular Non-Compaction 5

  • LVNC5

  • Left Ventricular Non-Compaction 9

  • LVNC9

  • Cardiomyopathy, Dilated, Type 1e

  • Cardiomyopathy, Dilated, Type 1s

  • Cardiomyopathy, Dilated, Type 1y

Cardiomyopathy, Dilated, 1ee
  • Dilated Cardiomyopathy 1ee

  • CMD1EE

  • Cardiomyopathy, Dilated 1ee

  • Cardiomyopathy, Dilated, Type 1ee

Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

Cardiomyopathy, Familial Hypertrophic, 26
  • Hypertrophic Cardiomyopathy 26

  • CMH26

  • Cardiomyopathy, Familial Restrictive 5

  • Cardiomyopathy, Familial Restrictive, 5

  • Cardiomyopathy Familial Hypertrophic 26

  • Cardiomyopathy, Familial Hypertrophic 26

  • RCM5

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Hemochromatosis, Type 2b
  • Hemochromatosis Type 2b

  • HFE2B

  • Hemochromatosis 2b

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta TNNC1 VGNC VGNC:78602
Canis familiaris TNNC1 VGNC VGNC:47686
Bos taurus TNNC1 VGNC VGNC:36189
Mus musculus TNNC1 MGD MGI:98779
Felis catus TNNC1 VGNC VGNC:66425
Rattus norvegicus TNNC1 RGD RGD:1309921
Others TNNC1 NCBI