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TNNC1 troponin C1, slow skeletal and cardiac type [ Homo sapiens (human) ]

Gene ID: 7134, updated on 5-Aug-2018

Summary

Official Symbol
TNNC1provided by HGNC
Official Full Name
troponin C1, slow skeletal and cardiac typeprovided by HGNC
Primary source
HGNC:HGNC:11943
See related
Ensembl:ENSG00000114854 MIM:191040; Vega:OTTHUMG00000158572
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TNC; TN-C; TNNC; CMD1Z; CMH13
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]
Expression
Restricted expression toward heart (RPKM 1964.8) See more
Orthologs

Genomic context

See TNNC1 in Genome Data Viewer
Location:
3p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (52451091..52454041, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52485107..52488057, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2179 Neighboring gene semaphorin 3G Neighboring gene uncharacterized LOC105377091 Neighboring gene nischarin Neighboring gene stabilin 1 Neighboring gene 5'-nucleotidase domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dilated cardiomyopathy 1Z
MedGen: C2678475 OMIM: 611879 GeneReviews: Not available
Compare labs
Familial hypertrophic cardiomyopathy 13
MedGen: C2750472 OMIM: 613243 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 protease hydrolyzes troponin C at amino acid residues 101-102 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • MFAP5-mediated ovarian cancer cell motility and invasiveness, organism-specific biosystem (from WikiPathways)
    MFAP5-mediated ovarian cancer cell motility and invasiveness, organism-specific biosystemA graphical summary of the molecular signalling events involved in MFAP5-mediated ovarian cancer cell motility and invasiveness.
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
troponin I binding IDA
Inferred from Direct Assay
more info
PubMed 
troponin I binding IPI
Inferred from Physical Interaction
more info
PubMed 
troponin T binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
diaphragm contraction IEA
Inferred from Electronic Annotation
more info
 
muscle filament sliding TAS
Traceable Author Statement
more info
 
regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
regulation of muscle contraction TAS
Traceable Author Statement
more info
PubMed 
regulation of muscle filament sliding speed ISS
Inferred from Sequence or Structural Similarity
more info
 
response to metal ion IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transition between fast and slow fiber IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cardiac Troponin complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
troponin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
troponin complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
troponin C, slow skeletal and cardiac muscles
Names
cardiac troponin C
slow twitch skeletal/cardiac muscle troponin C
troponin C type 1 (slow)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008963.1 RefSeqGene

    Range
    5001..7951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_378

mRNA and Protein(s)

  1. NM_003280.2NP_003271.1  troponin C, slow skeletal and cardiac muscles

    See identical proteins and their annotated locations for NP_003271.1

    Status: REVIEWED

    Source sequence(s)
    AJ574625, X07897
    Consensus CDS
    CCDS2857.1
    UniProtKB/Swiss-Prot
    P63316
    UniProtKB/TrEMBL
    Q6FH91
    Related
    ENSP00000232975.3, OTTHUMP00000213108, ENST00000232975.7, OTTHUMT00000351371
    Conserved Domains (1) summary
    cl25352
    Location:9157
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    52451091..52454041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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