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P48788

- TNNI2_HUMAN

UniProt

P48788 - TNNI2_HUMAN

Protein

Troponin I, fast skeletal muscle

Gene

TNNI2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi105 – 11612By similarityAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. troponin T binding Source: UniProtKB

    GO - Biological processi

    1. muscle filament sliding Source: Reactome
    2. positive regulation of transcription, DNA-templated Source: UniProtKB
    3. skeletal muscle contraction Source: UniProtKB

    Keywords - Molecular functioni

    Muscle protein

    Keywords - Ligandi

    Actin-binding

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Troponin I, fast skeletal muscle
    Alternative name(s):
    Troponin I, fast-twitch isoform
    Gene namesi
    Name:TNNI2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:11946. TNNI2.

    Subcellular locationi

    GO - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741R → Q in DA2B. 1 Publication
    VAR_016087

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi601680. phenotype.
    Orphaneti1146. Digitotalar dysmorphism.
    1147. Sheldon-Hall syndrome.
    PharmGKBiPA36635.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 182181Troponin I, fast skeletal musclePRO_0000186143Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylglycineBy similarity
    Modified residuei12 – 121PhosphothreonineBy similarity
    Modified residuei118 – 1181PhosphoserineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiP48788.
    PRIDEiP48788.

    PTM databases

    PhosphoSiteiP48788.

    Expressioni

    Gene expression databases

    BgeeiP48788.
    CleanExiHS_TNNI2.
    GenevestigatoriP48788.

    Organism-specific databases

    HPAiCAB018697.

    Interactioni

    Subunit structurei

    Binds to actin and tropomyosin.

    Protein-protein interaction databases

    BioGridi112990. 6 interactions.
    IntActiP48788. 2 interactions.
    MINTiMINT-3016990.
    STRINGi9606.ENSP00000252898.

    Structurei

    Secondary structure

    1
    182
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi119 – 1246
    Turni125 – 1273

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2MKPNMR-I116-132[»]
    ProteinModelPortaliP48788.
    SMRiP48788. Positions 4-180.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 4847Involved in binding TNCAdd
    BLAST
    Regioni97 – 11721Involved in binding TNC and actinAdd
    BLAST

    Sequence similaritiesi

    Belongs to the troponin I family.Curated

    Phylogenomic databases

    eggNOGiNOG297734.
    HOGENOMiHOG000293300.
    HOVERGENiHBG052737.
    InParanoidiP48788.
    KOiK12043.
    OMAiYLSEHCP.
    OrthoDBiEOG71G9WD.
    PhylomeDBiP48788.
    TreeFamiTF313374.

    Family and domain databases

    InterProiIPR001978. Troponin.
    [Graphical view]
    PfamiPF00992. Troponin. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P48788-1) [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

    MGDEEKRNRA ITARRQHLKS VMLQIAATEL EKEESRREAE KQNYLAEHCP    50
    PLHIPGSMSE VQELCKQLHA KIDAAEEEKY DMEVRVQKTS KELEDMNQKL 100
    FDLRGKFKRP PLRRVRMSAD AMLKALLGSK HKVCMDLRAN LKQVKKEDTE 150
    KERDLRDVGD WRKNIEEKSG MEGRKKMFES ES 182
    Length:182
    Mass (Da):21,339
    Last modified:January 23, 2007 - v2
    Checksum:iA204BF5616D748BB
    GO
    Isoform 2 (identifier: P48788-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2-5: GDEE → MSQCK

    Note: No experimental confirmation available.

    Show »
    Length:183
    Mass (Da):21,486
    Checksum:iBB44D362D4B4E094
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741R → Q in DA2B. 1 Publication
    VAR_016087

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2 – 54GDEE → MSQCK in isoform 2. 1 PublicationVSP_046052

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L21715 mRNA. Translation: AAA19813.1.
    AJ245761 Genomic DNA. Translation: CAB59981.1.
    AC051649 Genomic DNA. No translation available.
    BC032148 mRNA. Translation: AAH32148.1.
    BI833431 mRNA. No translation available.
    CCDSiCCDS31333.1. [P48788-1]
    PIRiS43508. TPHUIS.
    RefSeqiNP_001139301.1. NM_001145829.1. [P48788-1]
    NP_003273.1. NM_003282.3. [P48788-1]
    UniGeneiHs.523403.

    Genome annotation databases

    EnsembliENST00000252898; ENSP00000252898; ENSG00000130598. [P48788-1]
    ENST00000381906; ENSP00000371331; ENSG00000130598. [P48788-1]
    ENST00000381911; ENSP00000371336; ENSG00000130598. [P48788-1]
    GeneIDi7136.
    KEGGihsa:7136.
    UCSCiuc021qbt.1. human. [P48788-1]

    Polymorphism databases

    DMDMi1351297.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L21715 mRNA. Translation: AAA19813.1 .
    AJ245761 Genomic DNA. Translation: CAB59981.1 .
    AC051649 Genomic DNA. No translation available.
    BC032148 mRNA. Translation: AAH32148.1 .
    BI833431 mRNA. No translation available.
    CCDSi CCDS31333.1. [P48788-1 ]
    PIRi S43508. TPHUIS.
    RefSeqi NP_001139301.1. NM_001145829.1. [P48788-1 ]
    NP_003273.1. NM_003282.3. [P48788-1 ]
    UniGenei Hs.523403.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2MKP NMR - I 116-132 [» ]
    ProteinModelPortali P48788.
    SMRi P48788. Positions 4-180.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112990. 6 interactions.
    IntActi P48788. 2 interactions.
    MINTi MINT-3016990.
    STRINGi 9606.ENSP00000252898.

    PTM databases

    PhosphoSitei P48788.

    Polymorphism databases

    DMDMi 1351297.

    Proteomic databases

    PaxDbi P48788.
    PRIDEi P48788.

    Protocols and materials databases

    DNASUi 7136.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252898 ; ENSP00000252898 ; ENSG00000130598 . [P48788-1 ]
    ENST00000381906 ; ENSP00000371331 ; ENSG00000130598 . [P48788-1 ]
    ENST00000381911 ; ENSP00000371336 ; ENSG00000130598 . [P48788-1 ]
    GeneIDi 7136.
    KEGGi hsa:7136.
    UCSCi uc021qbt.1. human. [P48788-1 ]

    Organism-specific databases

    CTDi 7136.
    GeneCardsi GC11P001860.
    HGNCi HGNC:11946. TNNI2.
    HPAi CAB018697.
    MIMi 191043. gene.
    601680. phenotype.
    neXtProti NX_P48788.
    Orphaneti 1146. Digitotalar dysmorphism.
    1147. Sheldon-Hall syndrome.
    PharmGKBi PA36635.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297734.
    HOGENOMi HOG000293300.
    HOVERGENi HBG052737.
    InParanoidi P48788.
    KOi K12043.
    OMAi YLSEHCP.
    OrthoDBi EOG71G9WD.
    PhylomeDBi P48788.
    TreeFami TF313374.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

    GeneWikii TNNI2.
    GenomeRNAii 7136.
    NextBioi 27921.
    PROi P48788.
    SOURCEi Search...

    Gene expression databases

    Bgeei P48788.
    CleanExi HS_TNNI2.
    Genevestigatori P48788.

    Family and domain databases

    InterProi IPR001978. Troponin.
    [Graphical view ]
    Pfami PF00992. Troponin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Sequencing of a cDNA encoding the human fast-twitch skeletal muscle isoform of troponin I."
      Zhu L., Perez-Alvarado G., Wade R.
      Biochim. Biophys. Acta 1217:338-340(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Skeletal muscle.
    2. "Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2)."
      Mullen A.J., Barton P.J.R.
      Gene 242:313-320(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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] (ISOFORMS 1 AND 2).
      Tissue: Muscle.
    5. "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes."
      Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.
      Am. J. Hum. Genet. 72:681-690(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DA2B GLN-174.

    Entry informationi

    Entry nameiTNNI2_HUMAN
    AccessioniPrimary (citable) accession number: P48788
    Secondary accession number(s): A6NIV8, A6NJU5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 120 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3