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P19429

- TNNI3_HUMAN

UniProt

P19429 - TNNI3_HUMAN

Protein

Troponin I, cardiac muscle

Gene

TNNI3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 3 (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.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei80 – 801Involved in TNI-TNT interactions
    Sitei97 – 971Involved in TNI-TNT interactions

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi137 – 14812By similarityAdd
    BLAST

    GO - Molecular functioni

    1. actin binding Source: UniProtKB
    2. calcium channel inhibitor activity Source: UniProtKB
    3. calcium-dependent protein binding Source: UniProtKB
    4. metal ion binding Source: UniProtKB-KW
    5. protein binding Source: UniProtKB
    6. protein domain specific binding Source: UniProtKB
    7. protein kinase binding Source: UniProtKB
    8. troponin C binding Source: UniProtKB
    9. troponin T binding Source: UniProtKB

    GO - Biological processi

    1. cardiac muscle contraction Source: UniProtKB
    2. cellular calcium ion homeostasis Source: UniProtKB
    3. heart contraction Source: UniProtKB
    4. heart development Source: UniProtKB
    5. muscle filament sliding Source: Reactome
    6. negative regulation of ATPase activity Source: UniProtKB
    7. regulation of smooth muscle contraction Source: Ensembl
    8. regulation of systemic arterial blood pressure by ischemic conditions Source: UniProtKB
    9. vasculogenesis Source: UniProtKB
    10. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Muscle protein

    Keywords - Ligandi

    Actin-binding, Calcium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Troponin I, cardiac muscle
    Alternative name(s):
    Cardiac troponin I
    Gene namesi
    Name:TNNI3
    Synonyms:TNNC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:11947. TNNI3.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. sarcomere Source: BHF-UCL
    3. troponin complex Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]: 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti82 – 821P → S in CMH7. 1 Publication
    Corresponds to variant rs77615401 [ dbSNP | Ensembl ].
    VAR_016078
    Natural varianti141 – 1411R → Q in CMH7. 1 Publication
    VAR_019872
    Natural varianti145 – 1451R → G in CMH7. 1 Publication
    VAR_007603
    Natural varianti157 – 1571A → V in CMH7. 1 Publication
    VAR_019873
    Natural varianti162 – 1621R → P in CMH7. 2 Publications
    VAR_019874
    Natural varianti162 – 1621R → Q in CMH7. 1 Publication
    VAR_042745
    Natural varianti166 – 1661S → F in CMH7. 1 Publication
    VAR_029454
    Natural varianti177 – 1771Missing in CMH7. 1 Publication
    VAR_019875
    Natural varianti186 – 1861R → Q in CMH7. 1 Publication
    VAR_019876
    Natural varianti190 – 1901D → H in CMH7 and RCM1. 1 Publication
    VAR_016083
    Natural varianti196 – 1961D → N in CMH7. 2 Publications
    VAR_016085
    Natural varianti204 – 2041R → H in CMH7. 1 Publication
    VAR_042746
    Natural varianti206 – 2061K → Q in CMH7. 1 Publication
    VAR_007604
    Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti144 – 1441L → Q in RCM1. 1 Publication
    VAR_016079
    Natural varianti145 – 1451R → W in RCM1. 1 Publication
    Corresponds to variant rs28934871 [ dbSNP | Ensembl ].
    VAR_016080
    Natural varianti171 – 1711A → T in RCM1. 1 Publication
    VAR_016081
    Natural varianti178 – 1781K → E in RCM1. 1 Publication
    Corresponds to variant rs28934870 [ dbSNP | Ensembl ].
    VAR_016082
    Natural varianti190 – 1901D → H in CMH7 and RCM1. 1 Publication
    VAR_016083
    Natural varianti192 – 1921R → H in RCM1. 1 Publication
    VAR_016084
    Cardiomyopathy, dilated 2A (CMD2A) [MIM:611880]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21A → V in CMD2A. 1 Publication
    VAR_043989
    Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361K → Q in CMD1FF. 1 Publication
    VAR_063548
    Natural varianti116 – 1161A → G in CMD1FF. 1 Publication
    VAR_067264
    Natural varianti185 – 1851N → K in CMD1FF. 1 Publication
    VAR_063549

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi115210. phenotype.
    611880. phenotype.
    613286. phenotype.
    613690. phenotype.
    Orphaneti154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    75249. Familial isolated restrictive cardiomyopathy.
    PharmGKBiPA36636.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 210209Troponin I, cardiac musclePRO_0000186151Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei5 – 51Phosphoserine1 Publication
    Modified residuei6 – 61Phosphoserine1 Publication
    Modified residuei23 – 231Phosphoserine; by PKA and PKD/PRKD14 Publications
    Modified residuei24 – 241Phosphoserine; by PKA and PKD/PRKD14 Publications
    Modified residuei26 – 261Phosphotyrosine1 Publication
    Modified residuei31 – 311Phosphothreonine; by STK4/MST11 Publication
    Modified residuei42 – 421Phosphoserine; by PKC/PRKCEBy similarity
    Modified residuei44 – 441Phosphoserine; by PKC/PRKCEBy similarity
    Modified residuei51 – 511Phosphothreonine; by STK4/MST12 Publications
    Modified residuei77 – 771Phosphoserine1 Publication
    Modified residuei78 – 781Phosphothreonine1 Publication
    Modified residuei129 – 1291Phosphothreonine; by STK4/MST11 Publication
    Modified residuei143 – 1431Phosphothreonine; by STK4/MST12 Publications
    Modified residuei150 – 1501Phosphoserine; by PAK31 Publication
    Modified residuei166 – 1661Phosphoserine1 Publication
    Modified residuei181 – 1811Phosphothreonine1 Publication
    Modified residuei199 – 1991Phosphoserine1 Publication

    Post-translational modificationi

    Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction By similarity. Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T).By similarity6 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiP19429.
    PRIDEiP19429.

    PTM databases

    PhosphoSiteiP19429.

    Expressioni

    Gene expression databases

    ArrayExpressiP19429.
    BgeeiP19429.
    CleanExiHS_TNNC1.
    HS_TNNI3.
    GenevestigatoriP19429.

    Organism-specific databases

    HPAiHPA046428.

    Interactioni

    Subunit structurei

    Binds to actin and tropomyosin. Interacts with TRIM63. Interacts with STK4/MST1.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TNNI3KQ59H182EBI-704146,EBI-704142

    Protein-protein interaction databases

    BioGridi112991. 7 interactions.
    DIPiDIP-34065N.
    IntActiP19429. 4 interactions.
    MINTiMINT-2801556.
    STRINGi9606.ENSP00000341838.

    Structurei

    Secondary structure

    1
    210
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi43 – 7937
    Helixi85 – 873
    Helixi90 – 13546
    Helixi151 – 1588
    Turni159 – 1624

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1J1DX-ray2.61C/F31-163[»]
    1J1EX-ray3.30C/F31-210[»]
    1LXFNMR-I148-164[»]
    1MXLNMR-I148-164[»]
    1OZSNMR-B129-148[»]
    2KGBNMR-I145-164[»]
    2KRDNMR-I148-164[»]
    2L1RNMR-B145-164[»]
    DisProtiDP00166.
    ProteinModelPortaliP19429.
    SMRiP19429. Positions 35-191.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP19429.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni32 – 7948Involved in binding TNCAdd
    BLAST
    Regioni129 – 14921Involved in binding TNC and actinAdd
    BLAST

    Sequence similaritiesi

    Belongs to the troponin I family.Curated

    Phylogenomic databases

    eggNOGiNOG270363.
    HOGENOMiHOG000293300.
    HOVERGENiHBG052737.
    InParanoidiP19429.
    KOiK12044.
    OMAiRMYTCEG.
    OrthoDBiEOG71G9WD.
    PhylomeDBiP19429.
    TreeFamiTF313374.

    Family and domain databases

    InterProiIPR001978. Troponin.
    IPR021666. Troponin-I_N.
    [Graphical view]
    PfamiPF00992. Troponin. 1 hit.
    PF11636. Troponin-I_N. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P19429-1 [UniParc]FASTAAdd to Basket

    « Hide

    MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKKKSK ISASRKLQLK    50
    TLLLQIAKQE LEREAEERRG EKGRALSTRC QPLELAGLGF AELQDLCRQL 100
    HARVDKVDEE RYDIEAKVTK NITEIADLTQ KIFDLRGKFK RPTLRRVRIS 150
    ADAMMQALLG ARAKESLDLR AHLKQVKKED TEKENREVGD WRKNIDALSG 200
    MEGRKKKFES 210
    Length:210
    Mass (Da):24,008
    Last modified:January 23, 2007 - v3
    Checksum:i20A804F8C24AE1B0
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21A → V in CMD2A. 1 Publication
    VAR_043989
    Natural varianti36 – 361K → Q in CMD1FF. 1 Publication
    VAR_063548
    Natural varianti79 – 791R → C.
    Corresponds to variant rs3729712 [ dbSNP | Ensembl ].
    VAR_029453
    Natural varianti82 – 821P → S in CMH7. 1 Publication
    Corresponds to variant rs77615401 [ dbSNP | Ensembl ].
    VAR_016078
    Natural varianti116 – 1161A → G in CMD1FF. 1 Publication
    VAR_067264
    Natural varianti141 – 1411R → Q in CMH7. 1 Publication
    VAR_019872
    Natural varianti144 – 1441L → Q in RCM1. 1 Publication
    VAR_016079
    Natural varianti145 – 1451R → G in CMH7. 1 Publication
    VAR_007603
    Natural varianti145 – 1451R → W in RCM1. 1 Publication
    Corresponds to variant rs28934871 [ dbSNP | Ensembl ].
    VAR_016080
    Natural varianti157 – 1571A → V in CMH7. 1 Publication
    VAR_019873
    Natural varianti162 – 1621R → P in CMH7. 2 Publications
    VAR_019874
    Natural varianti162 – 1621R → Q in CMH7. 1 Publication
    VAR_042745
    Natural varianti166 – 1661S → F in CMH7. 1 Publication
    VAR_029454
    Natural varianti171 – 1711A → T in RCM1. 1 Publication
    VAR_016081
    Natural varianti177 – 1771Missing in CMH7. 1 Publication
    VAR_019875
    Natural varianti178 – 1781K → E in RCM1. 1 Publication
    Corresponds to variant rs28934870 [ dbSNP | Ensembl ].
    VAR_016082
    Natural varianti185 – 1851N → K in CMD1FF. 1 Publication
    VAR_063549
    Natural varianti186 – 1861R → Q in CMH7. 1 Publication
    VAR_019876
    Natural varianti190 – 1901D → H in CMH7 and RCM1. 1 Publication
    VAR_016083
    Natural varianti192 – 1921R → H in RCM1. 1 Publication
    VAR_016084
    Natural varianti196 – 1961D → N in CMH7. 2 Publications
    VAR_016085
    Natural varianti204 – 2041R → H in CMH7. 1 Publication
    VAR_042746
    Natural varianti206 – 2061K → Q in CMH7. 1 Publication
    VAR_007604

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X54163 mRNA. Translation: CAA38102.1.
    M64247 mRNA. Translation: AAA16157.1.
    X90780 Genomic DNA. Translation: CAA62301.1.
    CCDSiCCDS42628.1.
    PIRiA61229. TPHUIC.
    RefSeqiNP_000354.4. NM_000363.4.
    UniGeneiHs.709179.

    Genome annotation databases

    EnsembliENST00000344887; ENSP00000341838; ENSG00000129991.
    GeneIDi7137.
    KEGGihsa:7137.
    UCSCiuc002qjg.4. human.

    Polymorphism databases

    DMDMi136213.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X54163 mRNA. Translation: CAA38102.1 .
    M64247 mRNA. Translation: AAA16157.1 .
    X90780 Genomic DNA. Translation: CAA62301.1 .
    CCDSi CCDS42628.1.
    PIRi A61229. TPHUIC.
    RefSeqi NP_000354.4. NM_000363.4.
    UniGenei Hs.709179.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1J1D X-ray 2.61 C/F 31-163 [» ]
    1J1E X-ray 3.30 C/F 31-210 [» ]
    1LXF NMR - I 148-164 [» ]
    1MXL NMR - I 148-164 [» ]
    1OZS NMR - B 129-148 [» ]
    2KGB NMR - I 145-164 [» ]
    2KRD NMR - I 148-164 [» ]
    2L1R NMR - B 145-164 [» ]
    DisProti DP00166.
    ProteinModelPortali P19429.
    SMRi P19429. Positions 35-191.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112991. 7 interactions.
    DIPi DIP-34065N.
    IntActi P19429. 4 interactions.
    MINTi MINT-2801556.
    STRINGi 9606.ENSP00000341838.

    Chemistry

    ChEMBLi CHEMBL2095202.

    PTM databases

    PhosphoSitei P19429.

    Polymorphism databases

    DMDMi 136213.

    Proteomic databases

    PaxDbi P19429.
    PRIDEi P19429.

    Protocols and materials databases

    DNASUi 7137.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344887 ; ENSP00000341838 ; ENSG00000129991 .
    GeneIDi 7137.
    KEGGi hsa:7137.
    UCSCi uc002qjg.4. human.

    Organism-specific databases

    CTDi 7137.
    GeneCardsi GC19M055663.
    GeneReviewsi TNNI3.
    HGNCi HGNC:11947. TNNI3.
    HPAi HPA046428.
    MIMi 115210. phenotype.
    191044. gene.
    611880. phenotype.
    613286. phenotype.
    613690. phenotype.
    neXtProti NX_P19429.
    Orphaneti 154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    75249. Familial isolated restrictive cardiomyopathy.
    PharmGKBi PA36636.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270363.
    HOGENOMi HOG000293300.
    HOVERGENi HBG052737.
    InParanoidi P19429.
    KOi K12044.
    OMAi RMYTCEG.
    OrthoDBi EOG71G9WD.
    PhylomeDBi P19429.
    TreeFami TF313374.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

    ChiTaRSi TNNI3. human.
    EvolutionaryTracei P19429.
    GeneWikii TNNI3.
    GenomeRNAii 7137.
    NextBioi 27925.
    PROi P19429.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P19429.
    Bgeei P19429.
    CleanExi HS_TNNC1.
    HS_TNNI3.
    Genevestigatori P19429.

    Family and domain databases

    InterProi IPR001978. Troponin.
    IPR021666. Troponin-I_N.
    [Graphical view ]
    Pfami PF00992. Troponin. 1 hit.
    PF11636. Troponin-I_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of human cardiac troponin I using polymerase chain reaction."
      Vallins W.J., Brand N.J., Dabhade N., Butler-Browne G., Yacoub M.H., Barton P.J.R.
      FEBS Lett. 270:57-61(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart muscle.
    2. "Cloning and expression in Escherichia coli of the cDNA encoding human cardiac troponin I."
      Armour K.L., Harris W.J., Tempest P.R.
      Gene 131:287-292(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION TO 85, NUCLEOTIDE SEQUENCE [MRNA].
    3. "Troponin I isoform expression in human heart."
      Hunkeler N.M., Kullman J., Murphy A.M.
      Circ. Res. 69:1409-1414(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Isolation and characterization of the human cardiac troponin I gene (TNNI3)."
      Bhavsar P.K., Brand N.J., Yacoub M.H., Barton P.J.R.
      Genomics 35:11-23(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "A common motif of two adjacent phosphoserines in bovine, rabbit and human cardiac troponin I."
      Mittmann K., Jaquet K., Heilmeyer L.M.G. Jr.
      FEBS Lett. 273:41-45(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 11-36, ACETYLATION AT ALA-2, PHOSPHORYLATION AT SER-23 AND SER-24.
    6. "The ordered phosphorylation of cardiac troponin I by the cAMP-dependent protein kinase -- structural consequences and functional implications."
      Keane N.E., Quirk P.G., Gao Y., Patchell V.B., Perry S.V., Levine B.A.
      Eur. J. Biochem. 248:329-337(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-23 AND SER-24.
    7. "p21-activated kinase increases the calcium sensitivity of rat triton-skinned cardiac muscle fiber bundles via a mechanism potentially involving novel phosphorylation of troponin I."
      Buscemi N., Foster D.B., Neverova I., Van Eyk J.E.
      Circ. Res. 91:509-516(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-150 BY PAK3.
    8. "Protein kinase D is a novel mediator of cardiac troponin I phosphorylation and regulates myofilament function."
      Haworth R.S., Cuello F., Herron T.J., Franzen G., Kentish J.C., Gautel M., Avkiran M.
      Circ. Res. 95:1091-1099(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-23 AND SER-24.
    9. "Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I."
      Kedar V., McDonough H., Arya R., Li H.-H., Rockman H.A., Patterson C.
      Proc. Natl. Acad. Sci. U.S.A. 101:18135-18140(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TRIM63.
    10. "Phosphorylation of cardiac troponin I by mammalian sterile 20-like kinase 1."
      You B., Yan G., Zhang Z., Yan L., Li J., Ge Q., Jin J.P., Sun J.
      Biochem. J. 418:93-101(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH STK4/MST1, PHOSPHORYLATION AT THR-31; THR-51; THR-129 AND THR-143.
    11. "Multiple reaction monitoring to identify site-specific troponin I phosphorylated residues in the failing human heart."
      Zhang P., Kirk J.A., Ji W., dos Remedios C.G., Kass D.A., Van Eyk J.E., Murphy A.M.
      Circulation 126:1828-1837(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-5; SER-6; SER-23; SER-24; TYR-26; SER-42; SER-44; THR-51; SER-77; THR-78; THR-143; SER-166; THR-181 AND SER-199.
    12. "Binding of cardiac troponin-I147-163 induces a structural opening in human cardiac troponin-C."
      Li M.X., Spyracopoulos L., Sykes B.D.
      Biochemistry 38:8289-8298(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 148-164.
    13. "Structure of the regulatory N-domain of human cardiac troponin C in complex with human cardiac troponin I147-163 and bepridil."
      Wang X., Li M.X., Sykes B.D.
      J. Biol. Chem. 277:31124-31133(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 149-165 IN COMPLEX WITH CARDIAC TROPONIN C.
    14. Cited for: VARIANTS CMH7 GLY-145 AND GLN-206.
    15. "Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
      Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E.
      Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH7 SER-82 AND ASN-196.
    16. "Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations."
      Mogensen J., Kubo T., Duque M., Uribe W., Shaw A., Murphy R., Gimeno J.R., Elliott P., McKenna W.J.
      J. Clin. Invest. 111:209-216(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RCM1 GLN-144; TRP-145; THR-171; GLU-178; HIS-190 AND HIS-192.
    17. "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
      Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
      Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH7 GLN-141; VAL-157; PRO-162; LYS-177 DEL; GLN-186 AND ASN-196.
    18. "Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
      Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.
      Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMH7 PHE-166.
    19. "Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy."
      Murphy R.T., Mogensen J., Shaw A., Kubo T., Hughes S., McKenna W.J.
      Lancet 363:371-372(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMD2A VAL-2.
    20. "Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
      Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.
      J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH7 PRO-162; GLN-162 AND HIS-204.
    21. "Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy."
      Carballo S., Robinson P., Otway R., Fatkin D., Jongbloed J.D., de Jonge N., Blair E., van Tintelen J.P., Redwood C., Watkins H.
      Circ. Res. 105:375-382(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1FF GLN-36 AND LYS-185.
    22. Cited for: VARIANT CMD1FF GLY-116.

    Entry informationi

    Entry nameiTNNI3_HUMAN
    AccessioniPrimary (citable) accession number: P19429
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1991
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 149 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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