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P19429

- TNNI3_HUMAN

UniProt

P19429 - TNNI3_HUMAN

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Protein

Troponin I, cardiac muscle

Gene

TNNI3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 domain specific binding Source: UniProtKB
  6. protein kinase binding Source: UniProtKB
  7. troponin C binding Source: UniProtKB
  8. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP19429.
CleanExiHS_TNNC1.
HS_TNNI3.
ExpressionAtlasiP19429. baseline and differential.
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. 9 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 – 7937Combined sources
Helixi85 – 873Combined sources
Helixi90 – 13546Combined sources
Helixi151 – 1588Combined sources
Turni159 – 1624Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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

        10         20         30         40         50
MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKKKSK ISASRKLQLK
60 70 80 90 100
TLLLQIAKQE LEREAEERRG EKGRALSTRC QPLELAGLGF AELQDLCRQL
110 120 130 140 150
HARVDKVDEE RYDIEAKVTK NITEIADLTQ KIFDLRGKFK RPTLRRVRIS
160 170 180 190 200
ADAMMQALLG ARAKESLDLR AHLKQVKKED TEKENREVGD WRKNIDALSG
210
MEGRKKKFES
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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. 9 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

Bgeei P19429.
CleanExi HS_TNNC1.
HS_TNNI3.
ExpressionAtlasi P19429. baseline and differential.
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: November 26, 2014
This is version 151 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