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O15273

- TELT_HUMAN

UniProt

O15273 - TELT_HUMAN

Protein

Telethonin

Gene

TCAP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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 Source: UniProtKB
    4. protein binding, bridging Source: BHF-UCL
    5. structural constituent of muscle Source: BHF-UCL
    6. titin binding Source: BHF-UCL
    7. 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

    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

    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

    ArrayExpressiO15273.
    BgeeiO15273.
    CleanExiHS_TCAP.
    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. 12 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 – 1411
    Turni15 – 184
    Beta strandi19 – 3315
    Helixi35 – 373
    Beta strandi38 – 447
    Turni45 – 484
    Beta strandi49 – 557
    Beta strandi57 – 626
    Beta strandi67 – 737
    Beta strandi78 – 847

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MATSELSCEV SEENCERREA FWAEWKDLTL STRPEEGCSL HEEDTQRHET    50
    YHQQGQCQVL VQRSPWLMMR MGILGRGLQE YQLPYQRVLP LPIFTPAKMG 100
    ATKEEREDTP IQLQELLALE TALGGQCVDR QEVAEITKQL PPVVPVSKPG 150
    ALRRSLSRSM SQEAQRG 167
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 12 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.
    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

    ArrayExpressi O15273.
    Bgeei O15273.
    CleanExi HS_TCAP.
    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

    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: October 1, 2014
    This is version 128 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