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O15273

- TELT_HUMAN

UniProt

O15273 - TELT_HUMAN

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Protein

Telethonin

Gene

TCAP

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. FATZ binding Source: BHF-UCL
  2. ion channel binding Source: BHF-UCL
  3. protein binding, bridging Source: BHF-UCL
  4. structural constituent of muscle Source: BHF-UCL
  5. titin binding Source: BHF-UCL
  6. titin Z domain binding Source: BHF-UCL

GO - Biological processi

  1. adult heart development Source: BHF-UCL
  2. cardiac muscle contraction Source: BHF-UCL
  3. cardiac muscle fiber development Source: BHF-UCL
  4. cardiac muscle hypertrophy Source: BHF-UCL
  5. cardiac muscle hypertrophy in response to stress Source: BHF-UCL
  6. cardiac muscle tissue morphogenesis Source: BHF-UCL
  7. cardiac myofibril assembly Source: BHF-UCL
  8. detection of mechanical stimulus Source: BHF-UCL
  9. detection of muscle stretch Source: BHF-UCL
  10. muscle filament sliding Source: Reactome
  11. otic vesicle formation Source: Ensembl
  12. protein complex assembly Source: ProtInc
  13. response to muscle stretch Source: BHF-UCL
  14. sarcomere organization Source: BHF-UCL
  15. sarcomerogenesis Source: BHF-UCL
  16. skeletal muscle contraction Source: BHF-UCL
  17. skeletal muscle myosin thick filament assembly Source: BHF-UCL
  18. skeletal muscle thin filament assembly Source: BHF-UCL
  19. somitogenesis Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:11610. TCAP.

Subcellular locationi

Cytoplasmmyofibrilsarcomere 1 Publication

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. I band Source: BHF-UCL
  3. Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371T → I in CMH; augments the ability to imteract with TTN and MYOZ2. 1 Publication
VAR_029447
Natural varianti153 – 1531R → H in CMH. 1 Publication
VAR_029448
Limb-girdle muscular dystrophy 2G (LGMD2G) [MIM:601954]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1N (CMD1N) [MIM:607487]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131Missing Rare polymorphism; could be associated with CMD1N. 3 Publications
VAR_026649
Natural varianti70 – 701R → W in CMD1N. 1 Publication
VAR_026650
Natural varianti87 – 871R → Q in CMD1N. 1 Publication
VAR_015397
Natural varianti90 – 901P → L in CMD1N. 1 Publication
VAR_026651
Natural varianti132 – 1321E → Q in CMD1N; impairs the interaction with CSRP3, TTN and MYOZ2. 1 Publication
VAR_029446

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

MIMi192600. phenotype.
601954. phenotype.
607487. phenotype.
Orphaneti34514. Autosomal recessive limb-girdle muscular dystrophy type 2G.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA36370.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 167167TelethoninPRO_0000072483Add
BLAST

Proteomic databases

PaxDbiO15273.
PRIDEiO15273.

PTM databases

PhosphoSiteiO15273.

Expressioni

Tissue specificityi

Heart and skeletal muscle.

Gene expression databases

BgeeiO15273.
CleanExiHS_TCAP.
ExpressionAtlasiO15273. baseline and differential.
GenevestigatoriO15273.

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

Protein-protein interaction databases

BioGridi114127. 13 interactions.
DIPiDIP-35730N.
IntActiO15273. 24 interactions.
MINTiMINT-145661.
STRINGi9606.ENSP00000312624.

Structurei

Secondary structure

1
167
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi4 – 1411Combined sources
Turni15 – 184Combined sources
Beta strandi19 – 3315Combined sources
Helixi35 – 373Combined sources
Beta strandi38 – 447Combined sources
Turni45 – 484Combined sources
Beta strandi49 – 557Combined sources
Beta strandi57 – 626Combined sources
Beta strandi67 – 737Combined sources
Beta strandi78 – 847Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1YA5X-ray2.44T1-90[»]
2F8VX-ray2.75T/Y1-167[»]
ProteinModelPortaliO15273.
SMRiO15273. Positions 1-89.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15273.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG43340.
GeneTreeiENSGT00390000012014.
HOGENOMiHOG000237275.
HOVERGENiHBG004497.
InParanoidiO15273.
OMAiSTHEDCV.
OrthoDBiEOG76MK9Q.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131Missing Rare polymorphism; could be associated with CMD1N. 3 Publications
VAR_026649
Natural varianti70 – 701R → W in CMD1N. 1 Publication
VAR_026650
Natural varianti74 – 741L → H.1 Publication
Corresponds to variant rs17851031 [ dbSNP | Ensembl ].
VAR_029445
Natural varianti87 – 871R → Q in CMD1N. 1 Publication
VAR_015397
Natural varianti90 – 901P → L in CMD1N. 1 Publication
VAR_026651
Natural varianti106 – 1061R → C.
Corresponds to variant rs45578741 [ dbSNP | Ensembl ].
VAR_051421
Natural varianti132 – 1321E → Q in CMD1N; impairs the interaction with CSRP3, TTN and MYOZ2. 1 Publication
VAR_029446
Natural varianti137 – 1371T → I in CMH; augments the ability to imteract with TTN and MYOZ2. 1 Publication
VAR_029447
Natural varianti153 – 1531R → H in CMH. 1 Publication
VAR_029448

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.3. 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 .
CCDSi CCDS11342.1.
RefSeqi NP_003664.1. NM_003673.3.
UniGenei Hs.77628.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1YA5 X-ray 2.44 T 1-90 [» ]
2F8V X-ray 2.75 T/Y 1-167 [» ]
ProteinModelPortali O15273.
SMRi O15273. Positions 1-89.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114127. 13 interactions.
DIPi DIP-35730N.
IntActi O15273. 24 interactions.
MINTi MINT-145661.
STRINGi 9606.ENSP00000312624.

PTM databases

PhosphoSitei O15273.

Proteomic databases

PaxDbi O15273.
PRIDEi O15273.

Protocols and materials databases

DNASUi 8557.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000309889 ; ENSP00000312624 ; ENSG00000173991 .
GeneIDi 8557.
KEGGi hsa:8557.
UCSCi uc002hsh.3. human.

Organism-specific databases

CTDi 8557.
GeneCardsi GC17P037818.
GeneReviewsi TCAP.
HGNCi HGNC:11610. TCAP.
HPAi CAB004591.
HPA026477.
MIMi 192600. phenotype.
601954. phenotype.
604488. gene.
607487. phenotype.
neXtProti NX_O15273.
Orphaneti 34514. Autosomal recessive limb-girdle muscular dystrophy type 2G.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA36370.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43340.
GeneTreei ENSGT00390000012014.
HOGENOMi HOG000237275.
HOVERGENi HBG004497.
InParanoidi O15273.
OMAi STHEDCV.
OrthoDBi EOG76MK9Q.
PhylomeDBi O15273.
TreeFami TF333228.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi TCAP. human.
EvolutionaryTracei O15273.
GeneWikii Telethonin.
GenomeRNAii 8557.
NextBioi 32073.
PROi O15273.
SOURCEi Search...

Gene expression databases

Bgeei O15273.
CleanExi HS_TCAP.
ExpressionAtlasi O15273. baseline and differential.
Genevestigatori O15273.

Family and domain databases

Gene3Di 2.20.160.10. 1 hit.
InterProi IPR015667. Telethonin.
IPR023111. Titin-like_domain.
[Graphical view ]
PANTHERi PTHR15143. PTHR15143. 1 hit.
Pfami PF09470. Telethonin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skeletal muscle.
  2. "Human telethonin genomic sequence."
    Pallavicini A., Valle G., Lanfranchi G.
    Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Structure of the human telethonin gene."
    Mues A., Gautel M.
    Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT HIS-74.
    Tissue: Prostate.
  5. "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin."
    Mues A., van der Ven P.F.M., Young P., Furst D.O., Gautel M.
    FEBS Lett. 428:111-114(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TTN.
  6. Cited for: INTERACTION WITH MYOZ1.
  7. "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins."
    Frey N., Olson E.N.
    J. Biol. Chem. 277:13998-14004(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MYOZ3.
  8. "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle."
    Kojic S., Medeot E., Guccione E., Krmac H., Zara I., Martinelli V., Valle G., Faulkner G.
    J. Mol. Biol. 339:313-325(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ANKRD2.
  9. "Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk."
    Zou P., Pinotsis N., Lange S., Song Y.-H., Popov A., Mavridis I., Mayans O.M., Gautel M., Wilmanns M.
    Nature 439:229-233(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.44 ANGSTROMS) OF 1-90 IN COMPLEX WITH TTN.
  10. "Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus."
    Pinotsis N., Petoukhov M., Lange S., Svergun D., Zou P., Gautel M., Wilmanns M.
    J. Struct. Biol. 155:239-250(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS) IN COMPLEX WITH TTN, SUBCELLULAR LOCATION.
  11. "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin."
    Moreira E.S., Wiltshire T.J., Faulkner G., Nilforoushan A., Vainzof M., Suzuki O.T., Valle G., Reeves R., Zatz M., Passos-Bueno M.R., Jenne D.E.
    Nat. Genet. 24:163-166(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LGMD2G.
  12. "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy."
    Knoell R., Hoshijima M., Hoffman H.M., Person V., Lorenzen-Schmidt I., Bang M.-L., Hayashi T., Shiga N., Yasukawa H., Schaper W., McKenna W., Yokoyama M., Schork N.J., Omens J.H., McCulloch A.D., Kimura A., Gregorio C.C., Poller W.
    , Schaper J., Schultheiss H.P., Chien K.R.
    Cell 111:943-955(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMD1N GLN-87.
  13. "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin."
    Bos J.M., Poley R.N., Ny M., Tester D.J., Xu X., Vatta M., Towbin J.A., Gersh B.J., Ommen S.R., Ackerman M.J.
    Mol. Genet. Metab. 88:78-85(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMD1N TRP-70 AND LEU-90, VARIANT GLU-13 DEL.
  14. "Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism."
    Perrot A., Posch M.G., Osterziel K.J.
    Mol. Genet. Metab. 88:199-200(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLU-13 DEL.
  15. "Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population."
    Marziliano N., Pilotto A., Grasso M., Pasotti M., Arbustini E.
    Mol. Genet. Metab. 89:286-287(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLU-13 DEL.
  16. Cited for: VARIANTS CMH ILE-137 AND HIS-153, VARIANT CMD1N GLN-132, CHARACTERIZATION OF VARIANTS CMH ILE-137 AND HIS-153, CHARACTERIZATION OF VARIANT CMD1N GLN-132, INTERACTION WITH CSRP3; MYOZ2 AND TTN.

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 26, 2014
This is version 130 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

External Data

Dasty 3