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P13805

- TNNT1_HUMAN

UniProt

P13805 - TNNT1_HUMAN

Protein

Troponin T, slow skeletal muscle

Gene

TNNT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

    GO - Molecular functioni

    1. tropomyosin binding Source: UniProtKB

    GO - Biological processi

    1. muscle filament sliding Source: Reactome
    2. negative regulation of muscle contraction Source: UniProtKB
    3. skeletal muscle contraction Source: UniProtKB
    4. slow-twitch skeletal muscle fiber contraction Source: Ensembl

    Keywords - Molecular functioni

    Muscle protein

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Troponin T, slow skeletal muscle
    Short name:
    TnTs
    Alternative name(s):
    Slow skeletal muscle troponin T
    Short name:
    sTnT
    Gene namesi
    Name:TNNT1
    Synonyms:TNT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:11948. TNNT1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. troponin complex Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Nemaline myopathy

    Organism-specific databases

    MIMi605355. phenotype.
    Orphaneti98902. Amish nemaline myopathy.
    PharmGKBiPA36637.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 278278Troponin T, slow skeletal musclePRO_0000186168Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21Phosphoserine; by CK2By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiP13805.
    PRIDEiP13805.

    PTM databases

    PhosphoSiteiP13805.

    Expressioni

    Gene expression databases

    ArrayExpressiP13805.
    BgeeiP13805.
    CleanExiHS_TNNT1.
    GenevestigatoriP13805.

    Organism-specific databases

    HPAiCAB015168.

    Interactioni

    Protein-protein interaction databases

    BioGridi112992. 46 interactions.
    IntActiP13805. 47 interactions.
    MINTiMINT-1410243.
    STRINGi9606.ENSP00000291901.

    Structurei

    3D structure databases

    ProteinModelPortaliP13805.
    SMRiP13805. Positions 174-263.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the troponin T family.Curated

    Phylogenomic databases

    eggNOGiNOG299534.
    HOGENOMiHOG000231049.
    HOVERGENiHBG052790.
    InParanoidiP13805.
    KOiK10372.
    OMAiNVLLNRI.
    OrthoDBiEOG7W155J.
    PhylomeDBiP13805.

    Family and domain databases

    InterProiIPR027707. TNNT.
    IPR001978. Troponin.
    [Graphical view]
    PANTHERiPTHR11521. PTHR11521. 1 hit.
    PfamiPF00992. Troponin. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P13805-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL    50
    IPPKIPEGER VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK 100
    ERIERRRSER AEQQRFRTEK ERERQAKLAE EKMRKEEEEA KKRAEDDAKK 150
    KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE MKVRILSERK KPLDIDYMGE 200
    EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL MAKLKQQKYE 250
    INVLYNRISH AQKFRKGAGK GRVGGRWK 278
    Length:278
    Mass (Da):32,948
    Last modified:January 23, 2007 - v4
    Checksum:iD94DB18BC5804E04
    GO
    Isoform 2 (identifier: P13805-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         25-35: Missing.
         205-220: Missing.

    Show »
    Length:251
    Mass (Da):30,096
    Checksum:iDA9E80D5F8B5DE19
    GO
    Isoform 3 (identifier: P13805-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         205-220: Missing.

    Show »
    Length:262
    Mass (Da):31,242
    Checksum:i9CBA4A8DF3884CAF
    GO

    Sequence cautioni

    The sequence AAH22086.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti20 – 201E → D in AAA61204. (PubMed:2824479)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei25 – 3511Missing in isoform 2. 1 PublicationVSP_006639Add
    BLAST
    Alternative sequencei205 – 22016Missing in isoform 2 and isoform 3. 2 PublicationsVSP_006640Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M19308 mRNA. Translation: AAA61205.1.
    M19309 mRNA. Translation: AAA61204.1.
    S69208 mRNA. Translation: AAB30272.1.
    S69209 mRNA. Translation: AAB30273.1.
    AJ011712, AJ011713 Genomic DNA. Translation: CAA09750.1.
    AJ011712, AJ011713 Genomic DNA. Translation: CAA09751.1.
    AJ011712, AJ011713 Genomic DNA. Translation: CAA09752.1.
    BT019630 mRNA. Translation: AAV38436.1.
    BC010963 mRNA. Translation: AAH10963.1.
    BC022086 mRNA. Translation: AAH22086.2. Different initiation.
    BC034143 mRNA. Translation: AAH34143.1.
    S66057, S66170 Genomic DNA. Translation: AAD13978.1. Sequence problems.
    CCDSiCCDS12917.1. [P13805-1]
    CCDS46185.1. [P13805-2]
    CCDS59421.1. [P13805-3]
    PIRiA29783. TPHUTW.
    RefSeqiNP_001119604.1. NM_001126132.2. [P13805-3]
    NP_001119605.1. NM_001126133.2. [P13805-2]
    NP_001278703.1. NM_001291774.1. [P13805-2]
    NP_003274.3. NM_003283.5. [P13805-1]
    UniGeneiHs.631558.

    Genome annotation databases

    EnsembliENST00000291901; ENSP00000291901; ENSG00000105048. [P13805-3]
    ENST00000356783; ENSP00000349233; ENSG00000105048. [P13805-2]
    ENST00000587758; ENSP00000467789; ENSG00000105048. [P13805-2]
    ENST00000588981; ENSP00000467176; ENSG00000105048. [P13805-1]
    GeneIDi7138.
    KEGGihsa:7138.
    UCSCiuc002qjb.4. human. [P13805-1]
    uc002qjc.4. human. [P13805-3]
    uc002qjd.4. human. [P13805-2]

    Polymorphism databases

    DMDMi1174800.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M19308 mRNA. Translation: AAA61205.1 .
    M19309 mRNA. Translation: AAA61204.1 .
    S69208 mRNA. Translation: AAB30272.1 .
    S69209 mRNA. Translation: AAB30273.1 .
    AJ011712 , AJ011713 Genomic DNA. Translation: CAA09750.1 .
    AJ011712 , AJ011713 Genomic DNA. Translation: CAA09751.1 .
    AJ011712 , AJ011713 Genomic DNA. Translation: CAA09752.1 .
    BT019630 mRNA. Translation: AAV38436.1 .
    BC010963 mRNA. Translation: AAH10963.1 .
    BC022086 mRNA. Translation: AAH22086.2 . Different initiation.
    BC034143 mRNA. Translation: AAH34143.1 .
    S66057 , S66170 Genomic DNA. Translation: AAD13978.1 . Sequence problems.
    CCDSi CCDS12917.1. [P13805-1 ]
    CCDS46185.1. [P13805-2 ]
    CCDS59421.1. [P13805-3 ]
    PIRi A29783. TPHUTW.
    RefSeqi NP_001119604.1. NM_001126132.2. [P13805-3 ]
    NP_001119605.1. NM_001126133.2. [P13805-2 ]
    NP_001278703.1. NM_001291774.1. [P13805-2 ]
    NP_003274.3. NM_003283.5. [P13805-1 ]
    UniGenei Hs.631558.

    3D structure databases

    ProteinModelPortali P13805.
    SMRi P13805. Positions 174-263.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112992. 46 interactions.
    IntActi P13805. 47 interactions.
    MINTi MINT-1410243.
    STRINGi 9606.ENSP00000291901.

    PTM databases

    PhosphoSitei P13805.

    Polymorphism databases

    DMDMi 1174800.

    Proteomic databases

    PaxDbi P13805.
    PRIDEi P13805.

    Protocols and materials databases

    DNASUi 7138.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000291901 ; ENSP00000291901 ; ENSG00000105048 . [P13805-3 ]
    ENST00000356783 ; ENSP00000349233 ; ENSG00000105048 . [P13805-2 ]
    ENST00000587758 ; ENSP00000467789 ; ENSG00000105048 . [P13805-2 ]
    ENST00000588981 ; ENSP00000467176 ; ENSG00000105048 . [P13805-1 ]
    GeneIDi 7138.
    KEGGi hsa:7138.
    UCSCi uc002qjb.4. human. [P13805-1 ]
    uc002qjc.4. human. [P13805-3 ]
    uc002qjd.4. human. [P13805-2 ]

    Organism-specific databases

    CTDi 7138.
    GeneCardsi GC19M055644.
    GeneReviewsi TNNT1.
    HGNCi HGNC:11948. TNNT1.
    HPAi CAB015168.
    MIMi 191041. gene.
    605355. phenotype.
    neXtProti NX_P13805.
    Orphaneti 98902. Amish nemaline myopathy.
    PharmGKBi PA36637.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299534.
    HOGENOMi HOG000231049.
    HOVERGENi HBG052790.
    InParanoidi P13805.
    KOi K10372.
    OMAi NVLLNRI.
    OrthoDBi EOG7W155J.
    PhylomeDBi P13805.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

    ChiTaRSi TNNT1. human.
    GeneWikii TNNT1.
    GenomeRNAii 7138.
    NextBioi 27929.
    PROi P13805.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P13805.
    Bgeei P13805.
    CleanExi HS_TNNT1.
    Genevestigatori P13805.

    Family and domain databases

    InterProi IPR027707. TNNT.
    IPR001978. Troponin.
    [Graphical view ]
    PANTHERi PTHR11521. PTHR11521. 1 hit.
    Pfami PF00992. Troponin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Alternative splicing generates variants in important functional domains of human slow skeletal troponin T."
      Gahlmann R., Troutt A.B., Wade R.P., Gunning P., Kedes L.
      J. Biol. Chem. 262:16122-16126(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene."
      Samson F., Mesnard L., Mihovilovic M., Potter T.G., Mercadier J.-J., Roses A.D., Gilbert J.R.
      Biochem. Biophys. Res. Commun. 199:841-847(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Skeletal muscle.
    3. "Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T."
      Barton P.J.R., Cullen M.E., Townsend P.J., Brand N.J., Mullen A.J., Norman D.A.M., Bhavsar P.K., Yacoub M.H.
      Genomics 57:102-109(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    5. "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] (ISOFORM 3).
      Tissue: Skeletal muscle.
    6. "Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene."
      Novelli G., Gennarelli M., Sangiuolo F., D'Agruma L., Lo Cicero S., Melchionda S., Dallapiccola B.
      Cell Biochem. Funct. 11:187-191(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 254-278.
    7. Cited for: INVOLVEMENT IN NEM5.

    Entry informationi

    Entry nameiTNNT1_HUMAN
    AccessioniPrimary (citable) accession number: P13805
    Secondary accession number(s): O95472, Q16061, Q5U0E1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1990
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 137 of the entry and version 4 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3