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Protein

Telethonin

Gene

TCAP

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

Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.

Miscellaneous

The C-terminal domain appears to be unstructured in solution. It may promote the assembly of higher-order TTN complexes.

<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

  • BMP binding Source: BHF-UCL
  • FATZ binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • protein binding, bridging Source: BHF-UCL
  • structural constituent of muscle Source: BHF-UCL
  • titin binding Source: BHF-UCL
  • titin Z domain binding Source: BHF-UCL

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-390522 Striated Muscle Contraction

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O15273

<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_and_taxonomy_section">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:
Telethonin
Alternative name(s):
Titin cap protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TCAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000173991.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11610 TCAP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604488 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15273

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cytoplasm

<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, familial hypertrophic 25 (CMH25)2 Publications
The disease is caused by mutations 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.
See also OMIM:607487
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_02665070R → W in CMH25. 1 PublicationCorresponds to variant dbSNP:rs775636212EnsemblClinVar.1
Natural variantiVAR_02665190P → L in CMH25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs727504427EnsemblClinVar.1
Natural variantiVAR_029447137T → I in CMH25; increased interaction with TTN and MYOZ2. 1 PublicationCorresponds to variant dbSNP:rs773317399EnsemblClinVar.1
Natural variantiVAR_029448153R → H in CMH25. 1 PublicationCorresponds to variant dbSNP:rs149585781EnsemblClinVar.1
Muscular dystrophy, limb-girdle, autosomal recessive 7 (LGMDR7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.
See also OMIM:601954

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
8557

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

More...
GeneReviewsi
TCAP

MalaCards human disease database

More...
MalaCardsi
TCAP
MIMi601954 phenotype
607487 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173991

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

More...
Orphaneti
34514 Autosomal recessive limb-girdle muscular dystrophy type 2G
154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36370

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TCAP

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000724831 – 167TelethoninAdd BLAST167

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 residuei39PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

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PaxDbi
O15273

PeptideAtlas

More...
PeptideAtlasi
O15273

PRoteomics IDEntifications database

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PRIDEi
O15273

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48560

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O15273

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

More...
PhosphoSitePlusi
O15273

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Heart and skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173991 Expressed in 195 organ(s), highest expression level in heart left ventricle

CleanEx database of gene expression profiles

More...
CleanExi
HS_TCAP

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O15273 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O15273 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004591
HPA026477

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MYOZ1, MYOZ2 and MYOZ3. Interacts with CSRP3. Interacts directly with the N-terminal Ig-like domains of 2 titin (TTN) molecules. Interacts with ANKRD2; the interaction is direct.7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114127, 22 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-101 Titin-Telethonin complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O15273

Database of interacting proteins

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DIPi
DIP-35730N

Protein interaction database and analysis system

More...
IntActi
O15273, 36 interactors

Molecular INTeraction database

More...
MINTi
O15273

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312624

<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

1167
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YA5X-ray2.44T1-90[»]
2F8VX-ray2.75T/Y1-167[»]

Database of protein disorder

More...
DisProti
DP00797

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O15273

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

More...
SMRi
O15273

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O15273

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIUD Eukaryota
ENOG4111SDJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012014

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000237275

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004497

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15273

KEGG Orthology (KO)

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KOi
K19879

Identification of Orthologs from Complete Genome Data

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OMAi
EREETPI

Database of Orthologous Groups

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OrthoDBi
1270613at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O15273

TreeFam database of animal gene trees

More...
TreeFami
TF333228

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.20.160.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR015667 Telethonin
IPR023111 Titin-like_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR15143 PTHR15143, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09470 Telethonin, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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

O15273-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATSELSCEV SEENCERREA FWAEWKDLTL STRPEEGCSL HEEDTQRHET
60 70 80 90 100
YHQQGQCQVL VQRSPWLMMR MGILGRGLQE YQLPYQRVLP LPIFTPAKMG
110 120 130 140 150
ATKEEREDTP IQLQELLALE TALGGQCVDR QEVAEITKQL PPVVPVSKPG
160
ALRRSLSRSM SQEAQRG
Length:167
Mass (Da):19,052
Last modified:January 1, 1998 - 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:iA3B0E27D8C84F6C5
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
J3KT40J3KT40_HUMAN
Telethonin
TCAP
143Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02664913Missing Rare polymorphism. 3 Publications1
Natural variantiVAR_02665070R → W in CMH25. 1 PublicationCorresponds to variant dbSNP:rs775636212EnsemblClinVar.1
Natural variantiVAR_02944574L → H1 PublicationCorresponds to variant dbSNP:rs17851031Ensembl.1
Natural variantiVAR_01539787R → Q Found in a patient with dilated cardiomyopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121434298EnsemblClinVar.1
Natural variantiVAR_02665190P → L in CMH25; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs727504427EnsemblClinVar.1
Natural variantiVAR_051421106R → C. Corresponds to variant dbSNP:rs45578741EnsemblClinVar.1
Natural variantiVAR_029446132E → Q Probable disease-associated mutation found in a patient with dilated cardiomyopathy; impairs the interaction with CSRP3, TTN and MYOZ2. 1 PublicationCorresponds to variant dbSNP:rs748358368Ensembl.1
Natural variantiVAR_029447137T → I in CMH25; increased interaction with TTN and MYOZ2. 1 PublicationCorresponds to variant dbSNP:rs773317399EnsemblClinVar.1
Natural variantiVAR_029448153R → H in CMH25. 1 PublicationCorresponds to variant dbSNP:rs149585781EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ000491 mRNA Translation: CAA04129.1
AJ010063 Genomic DNA Translation: CAA08987.1
AJ011098 Genomic DNA Translation: CAA09479.1
BC012628 mRNA Translation: AAH12628.1
BC013330 mRNA Translation: AAH13330.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11342.1

NCBI Reference Sequences

More...
RefSeqi
NP_003664.1, NM_003673.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.77628

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000309889; ENSP00000312624; ENSG00000173991

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8557

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8557

UCSC genome browser

More...
UCSCi
uc002hsh.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AJ000491 mRNA Translation: CAA04129.1
AJ010063 Genomic DNA Translation: CAA08987.1
AJ011098 Genomic DNA Translation: CAA09479.1
BC012628 mRNA Translation: AAH12628.1
BC013330 mRNA Translation: AAH13330.1
CCDSiCCDS11342.1
RefSeqiNP_003664.1, NM_003673.3
UniGeneiHs.77628

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YA5X-ray2.44T1-90[»]
2F8VX-ray2.75T/Y1-167[»]
DisProtiDP00797
ProteinModelPortaliO15273
SMRiO15273
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114127, 22 interactors
ComplexPortaliCPX-101 Titin-Telethonin complex
CORUMiO15273
DIPiDIP-35730N
IntActiO15273, 36 interactors
MINTiO15273
STRINGi9606.ENSP00000312624

PTM databases

iPTMnetiO15273
PhosphoSitePlusiO15273

Polymorphism and mutation databases

BioMutaiTCAP

Proteomic databases

PaxDbiO15273
PeptideAtlasiO15273
PRIDEiO15273
ProteomicsDBi48560

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8557
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309889; ENSP00000312624; ENSG00000173991
GeneIDi8557
KEGGihsa:8557
UCSCiuc002hsh.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8557
DisGeNETi8557
EuPathDBiHostDB:ENSG00000173991.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TCAP
GeneReviewsiTCAP
HGNCiHGNC:11610 TCAP
HPAiCAB004591
HPA026477
MalaCardsiTCAP
MIMi601954 phenotype
604488 gene
607487 phenotype
neXtProtiNX_O15273
OpenTargetsiENSG00000173991
Orphaneti34514 Autosomal recessive limb-girdle muscular dystrophy type 2G
154 Familial isolated dilated cardiomyopathy
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA36370

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIUD Eukaryota
ENOG4111SDJ LUCA
GeneTreeiENSGT00390000012014
HOGENOMiHOG000237275
HOVERGENiHBG004497
InParanoidiO15273
KOiK19879
OMAiEREETPI
OrthoDBi1270613at2759
PhylomeDBiO15273
TreeFamiTF333228

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiO15273

Miscellaneous databases

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

More...
ChiTaRSi
TCAP human
EvolutionaryTraceiO15273

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Telethonin

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

More...
GenomeRNAii
8557

Protein Ontology

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PROi
PR:O15273

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173991 Expressed in 195 organ(s), highest expression level in heart left ventricle
CleanExiHS_TCAP
ExpressionAtlasiO15273 baseline and differential
GenevisibleiO15273 HS

Family and domain databases

Gene3Di2.20.160.10, 1 hit
InterProiView protein in InterPro
IPR015667 Telethonin
IPR023111 Titin-like_dom_sf
PANTHERiPTHR15143 PTHR15143, 1 hit
PfamiView protein in Pfam
PF09470 Telethonin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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<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 nameiTELT_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: O15273
Secondary accession number(s): Q96L27
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 165 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, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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