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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TNNC1 Gene

protein-coding GIFtS: 67
GCID: GC03M052485

troponin C type 1 (slow)

(Previous names: troponin C, slow )
(Previous symbol: TNNC)

Explore 13 diseases affiliated with
TNNC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Troponin C Type 1 (Slow)¹ ²		TNC²
TNNC¹ ² ³		Cardiac Troponin C²
TN-C² ³		Slow Twitch Skeletal/Cardiac Muscle Troponin C²
CMD1Z² ⁵		Troponin C, Slow Skeletal And Cardiac Muscles²
CMH13² ⁵		Troponin C1, Slow²
Troponin C, Slow¹

External Ids:	HGNC: 11943¹	Entrez Gene: 7134²	Ensembl: ENSG00000114854⁷	OMIM: 191040⁵	UniProtKB: P63316³

Export aliases for TNNC1 gene to outside databases

Previous GC identifers: GC03M051577 GC03M051737 GC03M052341 GC03M052443 GC03M052460

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNNC1:

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)

UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316

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 to Tn-C abolishes the inhibitory action of Tn on actin filaments

Gene Wiki entry for TNNC1 (Troponin C type 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TNNC1 gene promoter:
Pax-5 Sp1 RREB-1 MyoD Pax-4a ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TNNC1 promoter sequence

Search SABiosciences Chromatin IP Primers for TNNC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNNC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.1 HGNC cytogenetic band: 3p21.1

TNNC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNC1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M052485: view genomic region (about GC identifiers)

Start:	52,485,107 bp from pter	End:	52,488,086 bp from pter
Size:	2,980 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316 (See protein sequence)

Recommended Name: Troponin C, slow skeletal and cardiac muscles

Size: 161 amino acids; 18403 Da

Miscellaneous: Cardiac muscle Tn-C can bind 3 calcium ions per molecule. Domain I does not bind calcium

6/27 PDB 3D structures from and Proteopedia for TNNC1 (see all 27):

1AP4 (3D)

1IH0 (3D)

1J1D (3D)

1J1E (3D)

1LXF (3D)

1MXL (3D)

Secondary accessions: O14800 P02590 P04463

Explore the universe of human proteins at neXtProt for TNNC1: NX_P63316

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P63316

TNNC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003271.1

ENSEMBL proteins:

ENSP00000232975 ENSP00000420596

Reactome Protein details: P63316
Human Recombinant Protein Products:

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	Uscn Proteins for TNNC1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005861	troponin complex	IDA	12093807

TNNC1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TNNC1 for domains About GeneDecksing

4 InterPro domains/families:

IPR018247 EF_Hand_1_Ca_BS

IPR001125 Recoverin

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

Graphical View of Domain Structure for InterPro Entry P63316

ProtoNet protein and cluster: P63316

UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316

Similarity: Belongs to the troponin C family

Similarity: Contains 4 EF-hand domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316

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 to Tn-C abolishes the inhibitory action of Tn on actin filaments

Genatlas biochemistry entry for TNNC1:

troponin C1,calcium binding subunit,component of the troponin complex forming the calcium-sensitive molecular switch

that regulates striated muscle contraction in response to modifications in intracellular concentration,cardiac and

slow twitch skeletal muscle

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNC1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IDA	12840750
GO:0005515	protein binding	IPI	10806205
GO:0031013	troponin I binding	IPI	11735257
GO:0031014	troponin T binding	IPI	15542288
GO:0042803	protein homodimerization activity	IDA	18092822

TNNC1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

PKA activation in glucagon signalling

Development Beta-adrenergic receptors signaling via cAMP

0.29

Development_Beta-adrenergic receptors signaling via cAMP

0.29

Cardiac muscle contraction

Cardiac muscle contraction

1.00

Calcium signaling pathway

Calcium signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TNNC1

Development Beta-adrenergic receptors signaling via cAMP

1 GeneGo (Thomson Reuters) Pathway for TNNC1

Development Beta-adrenergic receptors signaling via cAMP

1 BioSystems Pathway for TNNC1

Striated Muscle Contraction

2 Reactome Pathways for TNNC1

	Muscle contraction
	Striated Muscle Contraction

4 Kegg Pathways (Kegg details for TNNC1):

	Calcium signaling pathway
	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

TNNC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TNNC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/20 Interacting proteins for TNNC1 (P63316³ ENSP00000232975⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNNT1	P13805³, ENSP00000291901⁴	I2D: score=2 STRING: ENSP00000291901
TRIM63	Q969Q1³, ENSP00000363390⁴	I2D: score=1 STRING: ENSP00000363390
TNNI3	P19429³, ENSP00000341838⁴	I2D: score=3 STRING: ENSP00000341838
TNNI1	P19237³, ENSP00000337022⁴	I2D: score=2 STRING: ENSP00000337022
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006937	regulation of muscle contraction	TAS	2250022
GO:0030049	muscle filament sliding	TAS	--
GO:0032972	regulation of muscle filament sliding speed	ISS	--
GO:0043462	regulation of ATPase activity	ISS	--
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	15542288

TNNC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TNNC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TNNC1

1 HMDB Compound for TNNC1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

8 DrugBank Compounds for TNNC1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Levosimendan	--	141505-33-1	target	potentiator	10446160 12967628 10731446 11113122 12975736 11752352
Bepridil	--	64706-54-3	target	other	2351672 12060657 9525919 11591369
Calcium	--	--	target	agonist	20459070 20371872 20599552 20566645
Trifluoperazine	Trifluoperazin (see all 13)	117-89-5	target	--	9525919 10592235
5-[1-(3,4-Dimethoxy-Benzoyl)-1,2,3,4-Tetrahydro-Quinolin-6-Yl]-6-Methyl-3,6-Dihydro-[1,3,4]Thiadiazin-2-One	--	--	target	--	10592235
Dihydroxyaluminium	--	13682-92-3	target	stimulator	11752352
Felodipine	Dl-Felodipine (see all 4)	72509-76-3	target	other	3178884
N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide	--	--	target	--	10592235

2 Novoseek chemical compound relationships for TNNC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
actomyosin	67	2	9724539 (1), 7601340 (1)
calcium	25.7	22	9922172 (5), 9724539 (3), 10098965 (3), 8947417 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about TNNC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TNNC1 gene:

NM_003280.2

Unigene Cluster for TNNC1:

Troponin C type 1 (slow)

Hs.118845 [show with all ESTs]

Unigene Representative Sequence: CF553054

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000232975(uc003deb.3) ENST00000496590 ENST00000461086

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Additional cDNA sequence:

AF020769.1 AK313743.1 BC030244.1 CR541865.1 CR541885.1 X07897.1

10 DOTS entries:

DT.455371 DT.91729929 DT.102836124 DT.102836125 DT.120879711 DT.97826743 DT.100747379 DT.102827291

DT.95173928 DT.95173929

24/298 AceView cDNA sequences (see all 298):

C05485 F31728 F35890 AJ706802 BM725723 AJ711438 AJ709285 F31965

X07897 F21049 AJ712027 NM_003280 F30913 F31625 F35291 F21481

F30373 T28705 BC030244 AA631036 BM790344 F34367 AJ710207 F30867

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TNNC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTCAACCC

About this image

TNNC1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Selective marker (cell-identifying gene)

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Multinuclear Myocytes

Skeletal Muscle

Pelvic Muscles

Multinuclear Myocytes

Skeletal Muscle

Posterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (A scalable, suspensi...)

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

See TNNC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TNNC1

SOURCE GeneReport for Unigene cluster: Hs.118845

SABiosciences Expression via Pathway-Focused PCR Array including TNNC1:

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TNNC1 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TNNC1¹	troponin C type 1 (slow)	87.37(n) 98.76(a)		396032 NM_205133.1 NP_990464.1
lizard (Anolis carolinensis)	Reptilia	TNNC1⁶	--	98(a)	1 ↔ 1	2(154547556-154557540)
African clawed frog (Xenopus laevis)	Amphibia	Xl.2228²	Xenopus laevis mRNA for cardiac troponin C, complete more	82.22(n)		AB003080.1
zebrafish (Danio rerio)	Actinopterygii	tnnc1²	troponin C, slow	81.56(n)		353247 AF434188.1
honey bee (Apis mellifera)	Insecta	--	--	37(a)	possible ortholog	Group13.2(92169-97586)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATCAL4⁶	calmodulin-like protein 12	18(a)	1 → many	2(17137829-17139612)
rice (Oryza sativa)	Liliopsida	--	OsCML6 - Calmodulin-related calcium sensor protein...	41(a)	1 → many	11(21707347-21708627)

ENSEMBL Gene Tree for TNNC1 (if available)
TreeFam Gene Tree for TNNC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TNNC1 gene

CALML3² CABP5² CABP1² CALM3² CABP4² CABP2² CALM1² TNNC2²

CALML6² CALML5² CALML4² CABP7² CALN1² CALM2²

18/30 SIMAP similar genes for TNNC1 using alignment to 3 protein entries: TNNC1_HUMAN (see all proteins) (see all similar genes):

TNNC2 CALM3 CALML3 CALM2 CALM1 OCM

CETN1 OCM2 CETN2 CAPSL CALML6 CALML5

MYL1 CABP2 NCALD CABP1 CABP5 CALML4

TNNC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893823^1,2	C	pathogenic	79987363(-)	`GAAGGA/GTGTGG`	2	D G	mis¹		0	--	--	--	--
rs190993960^1,2		--	52484779(+)	`ACCACC/TCTCTC`	1	--	ds500¹		0	--	--	--	--
rs143694634^1,2		--	52484944(+)	`CCACAC/TGGCAG`	1	--	ds500¹		0	--	--	--	--
rs115688995^1,2	C,F,	--	52485208(+)	`GGTCCT/GGGGAC`	1	--	ut3¹		1		WA	118
rs149428762^1,2	F	--	52485417(+)	`TAGTCG/AATGCG`	2	/I	syn¹		1		NA	4540
rs147821122^1,2	C,	--	52485468(+)	`ATGTCG/ATCCTC`	2	/D	syn¹		1		NA	4544
rs200296115^1,2		--	52485505(+)	`GCATTA/GTCTTC`	2	T I	mis¹		0	--	--	--	--
rs199709697^1,2		--	52485556(+)	`GAGGGG/TGCTCA`	1	--	int¹		0	--	--	--	--
rs201813958^1,2		--	52485729(+)	`TGGGTC/TAGGGT`	1	--	int¹		0	--	--	--	--
rs200926774^1,2		--	52485734(+)	`CAGGGA/TCAGAG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TNNC1 (52485107 - 52488086 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TNNC1: --
Human Gene Mutation Database (HGMD): TNNC1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TNNC1

DNA2.0 Custom Variant and Variant Library Synthesis for TNNC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TNNC1 for disorders           About GeneDecksing

OMIM gene information: 191040
OMIM disorders: 611879  613243
UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316

Defects in TNNC1 are the cause of cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]. Dilated cardiomyopathy

is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart

failure and arrhythmia. Patients are at risk of premature death

Defects in TNNC1 are the cause of familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243]. A

hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the

interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be

readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant

forms with high risk of cardiac failure and sudden cardiac death

13 diseases for TNNC1: About MalaCards

cardiomyopathy cardiomyopathy, familial hypertrophic, 13 cardiomyopathy, dilated, 1z hypertrophic cardiomyopathy

restrictive cardiomyopathy familial hypertrophic cardiomyopathy familial dilated cardiomyopathy dilated cardiomyopathy

short bowel syndrome myocardial infarction acute myocardial infarction pulmonary embolism

immunodeficiency

2 diseases from the University of Copenhagen DISEASES database for TNNC1:

Short bowel syndrome Familial hypertrophic cardiomyopathy

GeneTests: TNNC1

Familial Hypertrophic Cardiomyopathy

Human Genome Epidemiology (HuGE) Navigator: TNNC1 (24 documents)

Export disorders for TNNC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TNNC1 gene, integrated from 9 sources (see all 101):
(articles sorted by number of sources associating them with TNNC1)

Utopia: connect your pdf to the dynamic
world of online information

A dilated cardiomyopathy troponin C mutation lowers c ontractile force by reducing strong myosin-actin binding. (PubMed id 20371872)^{1, 7} Dweck D....Potter J.D. (2010)
Predicting cardiomyopathic phenotypes by altering Ca2 + affinity of cardiac troponin C. (PubMed id 20566645)^{1, 7} Parvatiyar M.S....Potter J.D. (2010)
Hypertrophic cardiomyopathy-linked mutation D145E dra stically alters calcium binding by the C-domain of cardiac troponin C. (PubMed id 20459070)^{1, 7} Swindle N. and Tikunova S.B. (2010)
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. (PubMed id 19439414)^{1, 2} Pinto J.R....Potter J.D. (2009)
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. (PubMed id 18572189)^{1, 2} Landstrom A.P.... Ackerman M.J. (2008)
Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. (PubMed id 16302972)^{1, 2} Schmidtmann A.... Jaquet K. (2005)
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 15542288)^{1, 2} Mogensen J.... McKenna W.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I. (PubMed id 12732641)^{1, 2} Lindhout D.A. and Sykes B.D. (2003)
Structure of the regulatory N-domain of human cardiac troponin C in complex with human cardiac troponin I147-163 and bepridil. (PubMed id 12060657)^{1, 7} Wang X.... Sykes B.D. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7134	HGNC: 11943	AceView: TNNC1	Ensembl:ENSG00000114854	euGenes: HUgn7134
ECgene: TNNC1	Kegg: 7134	H-InvDB: TNNC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TNNC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TNNC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TNNC1 gene:
Search GeneIP for patents involving TNNC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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TNNC1 Gene

troponin C type 1 (slow)

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TNNC1 Gene

troponin C type 1 (slow)

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