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

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; AllianceGenome:HGNC:11943
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: mouse all
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Genomic context

Location:: 3p21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52451100..52454041, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52484001..52486942, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52485116..52488057, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Troponin C gene mutations on cardiac muscle cell and skeletal Regulation: A comprehensive review.
Title: Troponin C gene mutations on cardiac muscle cell and skeletal Regulation: A comprehensive review.
Troponin C-1 Activated by E2F1 Accelerates Gastric Cancer Progression via Regulating TGF-beta/Smad Signaling.
Title: Troponin C-1 Activated by E2F1 Accelerates Gastric Cancer Progression via Regulating TGF-β/Smad Signaling.
De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Title: De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Dilated Cardiomyopathy Mutations and Phosphorylation disrupt the Active Orientation of Cardiac Troponin C.
Title: Dilated Cardiomyopathy Mutations and Phosphorylation disrupt the Active Orientation of Cardiac Troponin C.
TNNC1 knockout reverses metastatic potential of ovarian cancer cells by inactivating epithelial-mesenchymal transition and suppressing F-actin polymerization.
Title: TNNC1 knockout reverses metastatic potential of ovarian cancer cells by inactivating epithelial-mesenchymal transition and suppressing F-actin polymerization.
Binding of calcium and magnesium to human cardiac troponin C.
Title: Binding of calcium and magnesium to human cardiac troponin C.
Characterization of TNNC1 as a Novel Tumor Suppressor of Lung Adenocarcinoma.
Title: Characterization of TNNC1 as a Novel Tumor Suppressor of Lung Adenocarcinoma.
TNNC1 Reduced Gemcitabine Sensitivity of Nonsmall-Cell Lung Cancer by Increasing Autophagy.
Title: TNNC1 Reduced Gemcitabine Sensitivity of Nonsmall-Cell Lung Cancer by Increasing Autophagy.
Interpretation of elevated high-sensitivity cardiac troponin I in elite soccer players previously infected by severe acute respiratory syndrome coronavirus 2.
Title: Interpretation of elevated high-sensitivity cardiac troponin I in elite soccer players previously infected by severe acute respiratory syndrome coronavirus 2.
the presence of structural changes in the whole cTnC protein molecule in response to the presence of the L29Q HCM mutation and also Ca2+ binding
Title: Characterization of the L29Q Hypertrophic Cardiomyopathy Mutation in Cardiac Troponin C by Paramagnetic Relaxation Enhancement Nuclear Magnetic Resonance.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dilated cardiomyopathy 1Z MedGen: C2678475 OMIM: 611879 GeneReviews: Not available	not available
Hypertrophic cardiomyopathy 13 MedGen: C2750472 OMIM: 613243 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79154 (e-PCR)
- UniSTS:27709

STS-M37984 (e-PCR)
- UniSTS:52098

SGC35451 (e-PCR)
- UniSTS:12493

MARC_5631-5632:996690526:1 (e-PCR)
- UniSTS:269548

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables troponin I binding	IBA Inferred from Biological aspect of Ancestor more info
enables troponin I binding	IDA Inferred from Direct Assay more info	PubMed
enables troponin I binding	IPI Inferred from Physical Interaction more info	PubMed
enables troponin T binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in diaphragm contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in regulation of muscle filament sliding speed	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to metal ion	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in transition between fast and slow fiber	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of cardiac Troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cardiac Troponin complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of troponin complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.