1. Gene
  2. TNNC1 - troponin C1, slow skeletal and cardiac type Gene

TNNC1 - troponin C1, slow skeletal and cardiac type Gene

Homo sapiens

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

Gene ID: 7134 | Gene type: protein coding

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

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

Recombinant TNNC1 Proteins

Cat. No. Product Name Accession Purity
HY-P71372 Troponin C/TNNC1 Protein, Human (His) P63316 (M1-E161) ≥95%
HY-P71372A Troponin C/TNNC1 Protein, Human (N-His) P63316 (M1-E161) ≥95%

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