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UniProtKB - P63316 (TNNC1_HUMAN)

Entry version 162 (25 May 2022)
Sequence version 1 (11 Oct 2004)
Previous versions | rss
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Protein

Troponin C, slow skeletal and cardiac muscles

Gene

TNNC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

Miscellaneous

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi65Calcium 1PROSITE-ProRule annotation1
Metal bindingi67Calcium 1PROSITE-ProRule annotation1
Metal bindingi69Calcium 1PROSITE-ProRule annotation1
Metal bindingi71Calcium 1PROSITE-ProRule annotation1
Metal bindingi76Calcium 1PROSITE-ProRule annotation1
Metal bindingi105Calcium 2PROSITE-ProRule annotation1
Metal bindingi107Calcium 2PROSITE-ProRule annotation1
Metal bindingi109Calcium 2PROSITE-ProRule annotation1
Metal bindingi111Calcium 2PROSITE-ProRule annotation1
Metal bindingi116Calcium 2PROSITE-ProRule annotation1
Metal bindingi141Calcium 3PROSITE-ProRule annotation1
Metal bindingi143Calcium 3PROSITE-ProRule annotation1
Metal bindingi145Calcium 3PROSITE-ProRule annotation1
Metal bindingi147Calcium 3PROSITE-ProRule annotation1
Metal bindingi152Calcium 3PROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMuscle protein
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P63316

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-390522, Striated Muscle Contraction

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P63316

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Troponin C, slow skeletal and cardiac muscles
Short name:
TN-C
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TNNC1
Synonyms:TNNC
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11943, TNNC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		191040, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P63316

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000114854

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cardiomyopathy, dilated 1Z (CMD1Z)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_043988159G → D in CMD1Z. 1 PublicationCorresponds to variant dbSNP:rs104893823EnsemblClinVar.1
Cardiomyopathy, familial hypertrophic 13 (CMH13)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0630708A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607125EnsemblClinVar.1
Natural variantiVAR_01977629L → Q in CMH13; impairs protein kinase A dependent signaling from cardiac troponin I to troponin C. 2 PublicationsCorresponds to variant dbSNP:rs267607123EnsemblClinVar.1
Natural variantiVAR_06307184C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607126EnsemblClinVar.1
Natural variantiVAR_063072134E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs397516847EnsemblClinVar.1
Natural variantiVAR_063073145D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607124EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		7134

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TNNC1

MalaCards human disease database

More...MalaCardsi		TNNC1
MIMi611879, phenotype
613243, phenotype

Open Targets

More...OpenTargetsi		ENSG00000114854

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		154, Familial isolated dilated cardiomyopathy
155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36632

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P63316, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2095202

Drug and drug target database

More...DrugBanki		DB03944, 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
DB01375, Aluminium monostearate
DB01244, Bepridil
DB01373, Calcium
DB01023, Felodipine
DB00922, Levosimendan
DB04513, N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide
DB00831, Trifluoperazine

DrugCentral

More...DrugCentrali		P63316

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TNNC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		54042075

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000736971 – 161Troponin C, slow skeletal and cardiac musclesAdd BLAST161

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionine1 Publication1
Modified residuei98PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P63316

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P63316

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P63316

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P63316

PeptideAtlas

More...PeptideAtlasi		P63316

PRoteomics IDEntifications database

More...PRIDEi		P63316

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57520

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P63316

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P63316

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000114854, Expressed in triceps brachii and 167 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P63316, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P63316, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000114854, Group enriched (heart muscle, skeletal muscle, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112988, 28 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3280, Cardiac Troponin complex

Protein interaction database and analysis system

More...IntActi		P63316, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000232975

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P63316, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1161
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P63316

Biological Magnetic Resonance Data Bank

More...BMRBi		P63316

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P63316

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P63316

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 51EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini52 – 87EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini92 – 127EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini128 – 161EF-hand 4PROSITE-ProRule annotationAdd BLAST34

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the troponin C family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0027, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153541

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_061288_2_5_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P63316

Identification of Orthologs from Complete Genome Data

More...OMAi		QKSEFRA

Database of Orthologous Groups

More...OrthoDBi		1386217at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P63316

TreeFam database of animal gene trees

More...TreeFami		TF318191

Family and domain databases

Conserved Domains Database

More...CDDi		cd00051, EFh, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13499, EF-hand_7, 1 hit
PF13833, EF-hand_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00054, EFh, 4 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00018, EF_HAND_1, 3 hits
PS50222, EF_HAND_2, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P63316-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDDIYKAAVE QLTEEQKNEF KAAFDIFVLG AEDGCISTKE LGKVMRMLGQ 
        60         70         80         90        100
NPTPEELQEM IDEVDEDGSG TVDFDEFLVM MVRCMKDDSK GKSEEELSDL 
       110        120        130        140        150
FRMFDKNADG YIDLDELKIM LQATGETITE DDIEELMKDG DKNNDGRIDY 
       160 
DEFLEFMKGV E
Length:161
Mass (Da):18,403
Last modified:October 11, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i34DCCC46D503A312
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JDI3C9JDI3_HUMAN
Troponin C, slow skeletal and cardi...
TNNC1
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti96Missing in AAB91994 (Ref. 4) Curated1
Sequence conflicti115D → E AA sequence (PubMed:3951483).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0630708A → V in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607125EnsemblClinVar.1
Natural variantiVAR_01977629L → Q in CMH13; impairs protein kinase A dependent signaling from cardiac troponin I to troponin C. 2 PublicationsCorresponds to variant dbSNP:rs267607123EnsemblClinVar.1
Natural variantiVAR_06307184C → Y in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607126EnsemblClinVar.1
Natural variantiVAR_063072134E → D in CMH13; no changes in calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs397516847EnsemblClinVar.1
Natural variantiVAR_063073145D → E in CMH13; increases calcium sensitivity of the myofilaments. 2 PublicationsCorresponds to variant dbSNP:rs267607124EnsemblClinVar.1
Natural variantiVAR_043988159G → D in CMD1Z. 1 PublicationCorresponds to variant dbSNP:rs104893823EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X07897 mRNA Translation: CAA30736.1
M37984 Genomic DNA Translation: AAA36772.1
AF020769 mRNA Translation: AAB91994.1
BC030244 mRNA Translation: AAH30244.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2857.1

NCBI Reference Sequences

More...RefSeqi		NP_003271.1, NM_003280.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000232975.8; ENSP00000232975.3; ENSG00000114854.8

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7134

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7134

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000232975.8; ENSP00000232975.3; NM_003280.3; NP_003271.1

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X07897 mRNA Translation: CAA30736.1
M37984 Genomic DNA Translation: AAA36772.1
AF020769 mRNA Translation: AAB91994.1
BC030244 mRNA Translation: AAH30244.1
CCDSiCCDS2857.1
RefSeqiNP_003271.1, NM_003280.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AP4NMR-A1-89[»]
1IH0NMR-A91-161[»]
1J1DX-ray2.61A/D1-161[»]
1J1EX-ray3.30A/D1-161[»]
1LXFNMR-C1-89[»]
1MXLNMR-C1-89[»]
1OZSNMR-A90-161[»]
1SPYNMR-A1-89[»]
1WRKX-ray2.15A/B1-88[»]
1WRLX-ray2.60A/B/C/D/E/F1-88[»]
2JT0NMR-A1-161[»]
2JT3NMR-A1-161[»]
2JT8NMR-A1-161[»]
2JTZNMR-A1-161[»]
2JXLNMR-A1-89[»]
2KDHNMR-A91-161[»]
2KFXNMR-T1-89[»]
2KGBNMR-C1-89[»]
2KRDNMR-C1-89[»]
2L1RNMR-A1-89[»]
2L98NMR-A91-161[»]
2MKPNMR-C1-89[»]
2MLENMR-C91-161[»]
2MLFNMR-C91-161[»]
2MZPNMR-C1-89[»]
2N79NMR-C1-89[»]
2N7LNMR-C1-89[»]
3RV5X-ray2.20A/B/C/D1-89[»]
3SD6X-ray1.37A1-89[»]
3SWBX-ray1.67A1-89[»]
4GJEX-ray1.60A1-89[»]
4GJFX-ray1.90A1-89[»]
4GJGX-ray2.00A1-89[»]
4Y99X-ray2.00A1-161[»]
5VLNNMR-A1-92[»]
5W88NMR-A1-90[»]
5WCLNMR-A1-92[»]
6KN7electron microscopy6.60V/c2-161[»]
6KN8electron microscopy4.80V/c2-161[»]
6MV3NMR-A1-92[»]
7JGINMR-A1-92[»]
7SC2X-ray1.81A1-92[»]
7SC3X-ray2.23A1-92[»]
AlphaFoldDBiP63316
BMRBiP63316
SMRiP63316
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112988, 28 interactors
ComplexPortaliCPX-3280, Cardiac Troponin complex
IntActiP63316, 10 interactors
STRINGi9606.ENSP00000232975

Chemistry databases

ChEMBLiCHEMBL2095202
DrugBankiDB03944, 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
DB01375, Aluminium monostearate
DB01244, Bepridil
DB01373, Calcium
DB01023, Felodipine
DB00922, Levosimendan
DB04513, N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide
DB00831, Trifluoperazine
DrugCentraliP63316

PTM databases

iPTMnetiP63316
PhosphoSitePlusiP63316

Genetic variation databases

BioMutaiTNNC1
DMDMi54042075

Proteomic databases

EPDiP63316
jPOSTiP63316
MassIVEiP63316
PaxDbiP63316
PeptideAtlasiP63316
PRIDEiP63316
ProteomicsDBi57520

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3730, 442 antibodies from 34 providers

The DNASU plasmid repository

More...DNASUi		7134

Genome annotation databases

EnsembliENST00000232975.8; ENSP00000232975.3; ENSG00000114854.8
GeneIDi7134
KEGGihsa:7134
MANE-SelectiENST00000232975.8; ENSP00000232975.3; NM_003280.3; NP_003271.1

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7134
DisGeNETi7134

GeneCards: human genes, protein and diseases

More...GeneCardsi		TNNC1
GeneReviewsiTNNC1
HGNCiHGNC:11943, TNNC1
HPAiENSG00000114854, Group enriched (heart muscle, skeletal muscle, tongue)
MalaCardsiTNNC1
MIMi191040, gene
611879, phenotype
613243, phenotype
neXtProtiNX_P63316
OpenTargetsiENSG00000114854
Orphaneti154, Familial isolated dilated cardiomyopathy
155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA36632
VEuPathDBiHostDB:ENSG00000114854

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0027, Eukaryota
GeneTreeiENSGT00940000153541
HOGENOMiCLU_061288_2_5_1
InParanoidiP63316
OMAiQKSEFRA
OrthoDBi1386217at2759
PhylomeDBiP63316
TreeFamiTF318191

Enzyme and pathway databases

PathwayCommonsiP63316
ReactomeiR-HSA-390522, Striated Muscle Contraction
SignaLinkiP63316

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7134, 11 hits in 1069 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TNNC1, human
EvolutionaryTraceiP63316

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Troponin_C_type_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7134
PharosiP63316, Tclin

Protein Ontology

More...PROi		PR:P63316
RNActiP63316, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114854, Expressed in triceps brachii and 167 other tissues
ExpressionAtlasiP63316, baseline and differential
GenevisibleiP63316, HS

Family and domain databases

CDDicd00051, EFh, 2 hits
InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
PfamiView protein in Pfam
PF13499, EF-hand_7, 1 hit
PF13833, EF-hand_8, 1 hit
SMARTiView protein in SMART
SM00054, EFh, 4 hits
SUPFAMiSSF47473, SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 3 hits
PS50222, EF_HAND_2, 4 hits

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTNNC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P63316
Secondary accession number(s): O14800, P02590, P04463
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: October 11, 2004
Last modified: May 25, 2022
This is version 162 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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