Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Telethonin

Gene

TCAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

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

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiO15273

Names & Taxonomyi

Protein namesi
Recommended name:
Telethonin
Alternative name(s):
Titin cap protein
Gene namesi
Name:TCAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000173991.5
HGNCiHGNC:11610 TCAP
MIMi604488 gene
neXtProtiNX_O15273

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

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

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
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
Limb-girdle muscular dystrophy 2G (LGMD2G)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

DisGeNETi8557
GeneReviewsiTCAP
MalaCardsiTCAP
MIMi601954 phenotype
607487 phenotype
OpenTargetsiENSG00000173991
Orphaneti34514 Autosomal recessive limb-girdle muscular dystrophy type 2G
154 Familial isolated dilated cardiomyopathy
155 Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA36370

Polymorphism and mutation databases

BioMutaiTCAP

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000724831 – 167TelethoninAdd BLAST167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei39PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO15273
PeptideAtlasiO15273
PRIDEiO15273
ProteomicsDBi48560

PTM databases

iPTMnetiO15273
PhosphoSitePlusiO15273

Expressioni

Tissue specificityi

Heart and skeletal muscle.

Gene expression databases

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

Organism-specific databases

HPAiCAB004591
HPA026477

Interactioni

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

Secondary structure

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

3D structure databases

DisProtiDP00797
ProteinModelPortaliO15273
SMRiO15273
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15273

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IIUD Eukaryota
ENOG4111SDJ LUCA
GeneTreeiENSGT00390000012014
HOGENOMiHOG000237275
HOVERGENiHBG004497
InParanoidiO15273
KOiK19879
OMAiGVREHQL
OrthoDBiEOG091G0MDX
PhylomeDBiO15273
TreeFamiTF333228

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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow 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
Checksum:iA3B0E27D8C84F6C5
GO

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:

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 Publication1
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTELT_HUMAN
AccessioniPrimary (citable) accession number: O15273
Secondary accession number(s): Q96L27
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 12, 2018
This is version 163 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again