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Protein

Telethonin

Gene

TCAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

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

  • adult heart development Source: BHF-UCL
  • cardiac muscle contraction Source: BHF-UCL
  • cardiac muscle fiber development Source: BHF-UCL
  • cardiac muscle hypertrophy Source: BHF-UCL
  • cardiac muscle hypertrophy in response to stress Source: BHF-UCL
  • cardiac muscle tissue morphogenesis Source: BHF-UCL
  • cardiac myofibril assembly Source: BHF-UCL
  • detection of mechanical stimulus Source: BHF-UCL
  • detection of muscle stretch Source: BHF-UCL
  • muscle filament sliding Source: Reactome
  • otic vesicle formation Source: Ensembl
  • protein complex assembly Source: ProtInc
  • response to muscle stretch Source: BHF-UCL
  • sarcomere organization Source: BHF-UCL
  • sarcomerogenesis Source: BHF-UCL
  • skeletal muscle contraction Source: BHF-UCL
  • skeletal muscle myosin thick filament assembly Source: BHF-UCL
  • skeletal muscle thin filament assembly Source: BHF-UCL
  • somitogenesis Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173991-MONOMER.
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

HGNCiHGNC:11610. TCAP.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • I band Source: BHF-UCL
  • Z disc Source: BHF-UCL
Complete GO annotation...

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 rs775636212dbSNPEnsembl.1
Natural variantiVAR_02665190P → L in CMH25; unknown pathological significance. 1 PublicationCorresponds to variant rs727504427dbSNPEnsembl.1
Natural variantiVAR_029447137T → I in CMH25; increased interaction with TTN and MYOZ2. 1 PublicationCorresponds to variant rs773317399dbSNPEnsembl.1
Natural variantiVAR_029448153R → H in CMH25. 1 PublicationCorresponds to variant rs149585781dbSNPEnsembl.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.
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.

PTM databases

iPTMnetiO15273.
PhosphoSitePlusiO15273.

Expressioni

Tissue specificityi

Heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000173991.
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

WithEntry#Exp.IntActNotes
CSRP3P504613EBI-954089,EBI-5658719
MYOZ2Q9NPC62EBI-954089,EBI-746712
TTNQ8WZ427EBI-954089,EBI-681210

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
  • titin binding Source: BHF-UCL
  • titin Z domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi114127. 22 interactors.
DIPiDIP-35730N.
IntActiO15273. 26 interactors.
MINTiMINT-145661.
STRINGi9606.ENSP00000312624.

Structurei

Secondary structure

1167
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi4 – 14Combined sources11
Turni15 – 18Combined sources4
Beta strandi19 – 33Combined sources15
Helixi35 – 37Combined sources3
Beta strandi38 – 44Combined sources7
Turni45 – 48Combined sources4
Beta strandi49 – 55Combined sources7
Beta strandi57 – 62Combined sources6
Beta strandi67 – 73Combined sources7
Beta strandi78 – 84Combined sources7

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[»]
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.
InterProiIPR015667. Telethonin.
IPR023111. Titin-like_domain.
[Graphical view]
PANTHERiPTHR15143. PTHR15143. 1 hit.
PfamiPF09470. Telethonin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02664913Missing Rare polymorphism. 3 Publications1
Natural variantiVAR_02665070R → W in CMH25. 1 PublicationCorresponds to variant rs775636212dbSNPEnsembl.1
Natural variantiVAR_02944574L → H.1 PublicationCorresponds to variant rs17851031dbSNPEnsembl.1
Natural variantiVAR_01539787R → Q Found in a patient with dilated cardiomyopathy; unknown pathological significance. 1 PublicationCorresponds to variant rs121434298dbSNPEnsembl.1
Natural variantiVAR_02665190P → L in CMH25; unknown pathological significance. 1 PublicationCorresponds to variant rs727504427dbSNPEnsembl.1
Natural variantiVAR_051421106R → C.Corresponds to variant rs45578741dbSNPEnsembl.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 rs773317399dbSNPEnsembl.1
Natural variantiVAR_029448153R → H in CMH25. 1 PublicationCorresponds to variant rs149585781dbSNPEnsembl.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

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[»]
ProteinModelPortaliO15273.
SMRiO15273.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114127. 22 interactors.
DIPiDIP-35730N.
IntActiO15273. 26 interactors.
MINTiMINT-145661.
STRINGi9606.ENSP00000312624.

PTM databases

iPTMnetiO15273.
PhosphoSitePlusiO15273.

Polymorphism and mutation databases

BioMutaiTCAP.

Proteomic databases

PaxDbiO15273.
PeptideAtlasiO15273.
PRIDEiO15273.

Protocols and materials databases

DNASUi8557.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8557.
DisGeNETi8557.
GeneCardsiTCAP.
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. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA36370.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173991-MONOMER.
ReactomeiR-HSA-390522. Striated Muscle Contraction.
SIGNORiO15273.

Miscellaneous databases

ChiTaRSiTCAP. human.
EvolutionaryTraceiO15273.
GeneWikiiTelethonin.
GenomeRNAii8557.
PROiO15273.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173991.
CleanExiHS_TCAP.
ExpressionAtlasiO15273. baseline and differential.
GenevisibleiO15273. HS.

Family and domain databases

Gene3Di2.20.160.10. 1 hit.
InterProiIPR015667. Telethonin.
IPR023111. Titin-like_domain.
[Graphical view]
PANTHERiPTHR15143. PTHR15143. 1 hit.
PfamiPF09470. Telethonin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTELT_HUMAN
AccessioniPrimary (citable) accession number: O15273
Secondary accession number(s): Q96L27
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 151 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.