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Showing Protein Troponin I, cardiac muscle (HMDBP08061)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP08061
Secondary Accession Numbers
  • 13772
Name Troponin I, cardiac muscle
Synonyms
  1. Cardiac troponin I
Gene Name TNNI3
Protein Type Unknown
Biological Properties
General Function Involved in actin binding
Specific Function Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
Pathways
  • Acebutolol Action Pathway
  • Alprenolol Action Pathway
  • Amiodarone Action Pathway
  • Amlodipine Action Pathway
  • Arbutamine Action Pathway
  • Atenolol Action Pathway
  • Betaxolol Action Pathway
  • Bevantolol Action Pathway
  • Bisoprolol Action Pathway
  • Bopindolol Action Pathway
  • Bupranolol Action Pathway
  • Carteolol Action Pathway
  • Carvedilol Action Pathway
  • Diltiazem Action Pathway
  • Disopyramide Action Pathway
  • Dobutamine Action Pathway
  • Epinephrine Action Pathway
  • Esmolol Action Pathway
  • Felodipine Action Pathway
  • Flecainide Action Pathway
  • Fosphenytoin (Antiarrhythmic) Action Pathway
  • Ibutilide Action Pathway
  • Isoprenaline Action Pathway
  • Isradipine Action Pathway
  • Labetalol Action Pathway
  • Levobunolol Action Pathway
  • Lidocaine (Antiarrhythmic) Action Pathway
  • Metipranolol Action Pathway
  • Metoprolol Action Pathway
  • Mexiletine Action Pathway
  • Muscle/Heart Contraction
  • Nadolol Action Pathway
  • Nebivolol Action Pathway
  • Nifedipine Action Pathway
  • Nimodipine Action Pathway
  • Nisoldipine Action Pathway
  • Nitrendipine Action Pathway
  • Oxprenolol Action Pathway
  • Penbutolol Action Pathway
  • Phenytoin (Antiarrhythmic) Action Pathway
  • Pindolol Action Pathway
  • Practolol Action Pathway
  • Procainamide (Antiarrhythmic) Action Pathway
  • Propranolol Action Pathway
  • Quinidine Action Pathway
  • Sotalol Action Pathway
  • Timolol Action Pathway
  • Tocainide Action Pathway
  • Verapamil Action Pathway
Reactions Not Available
GO Classification Not Available
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 19q13.4
SNPs TNNI3
Gene Sequence 
>633 bp
ATGGCGGATGGGAGCAGCGATGCGGCTAGGGAACCTCGCCCTGCACCAGCCCCAATCAGA
CGCCGCTCCTCCAACTACCGCGCTTATGCCACGGAGCCGCACGCCAAGAAAAAATCTAAG
ATCTCCGCCTCGAGAAAATTGCAGCTGAAGACTCTGCTGCTGCAGATTGCAAAGCAAGAG
CTGGAGCGAGAGGCGGAGGAGCGGCGCGGAGAGAAGGGGCGCGCTCTGAGCACCCGCTGC
CAGCCGCTGGAGTTGGCCGGGCTGGGCTTCGCGGAGCTGCAGGACTTGTGCCGACAGCTC
CACGCCCGTGTGGACAAGGTGGATGAAGAGAGATACGACATAGAGGCAAAAGTCACCAAG
AACATCACGGAGATTGCAGATCTGACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAG
CGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGATGCAGGCGCTGCTGGGG
GCCCGGGCTAAGGAGTCCCTGGACCTGCGGGCCCACCTCAAGCAGGTGAAGAAGGAGGAC
ACCGAGAAGGAAAACCGGGAGGTGGGAGACTGGCGCAAGAACATCGATGCACTGAGTGGA
ATGGAGGGCCGCAAGAAAAAGTTTGAGAGCTGA
Protein Properties
Number of Residues 210
Molecular Weight 24007.3
Theoretical pI 10.57
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence 
>Troponin I, cardiac muscle
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQE
LEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTK
NITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLGARAKESLDLRAHLKQVKKED
TEKENREVGDWRKNIDALSGMEGRKKKFES
GenBank ID Protein 339967
UniProtKB/Swiss-Prot ID P19429
UniProtKB/Swiss-Prot Entry Name TNNI3_HUMAN
PDB IDs
GenBank Gene ID M64247
GeneCard ID TNNI3
GenAtlas ID TNNI3
HGNC ID HGNC:11947
References
General References
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. [PubMed:12707239 ]
  2. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V: Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003 Oct;64(4):339-49. [PubMed:12974739 ]
  3. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005 Oct;42(10):e59. [PubMed:16199542 ]
  4. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002 Jan 29;105(4):446-51. [PubMed:11815426 ]
  5. Vallins WJ, Brand NJ, Dabhade N, Butler-Browne G, Yacoub MH, Barton PJ: Molecular cloning of human cardiac troponin I using polymerase chain reaction. FEBS Lett. 1990 Sep 17;270(1-2):57-61. [PubMed:2226790 ]
  6. Armour KL, Harris WJ, Tempest PR: Cloning and expression in Escherichia coli of the cDNA encoding human cardiac troponin I. Gene. 1993 Sep 15;131(2):287-92. [PubMed:8406024 ]
  7. Hunkeler NM, Kullman J, Murphy AM: Troponin I isoform expression in human heart. Circ Res. 1991 Nov;69(5):1409-14. [PubMed:1934363 ]
  8. Bhavsar PK, Brand NJ, Yacoub MH, Barton PJ: Isolation and characterization of the human cardiac troponin I gene (TNNI3). Genomics. 1996 Jul 1;35(1):11-23. [PubMed:8661099 ]
  9. Mittmann K, Jaquet K, Heilmeyer LM Jr: A common motif of two adjacent phosphoserines in bovine, rabbit and human cardiac troponin I. FEBS Lett. 1990 Oct 29;273(1-2):41-5. [PubMed:2226863 ]
  10. Keane NE, Quirk PG, Gao Y, Patchell VB, Perry SV, Levine BA: The ordered phosphorylation of cardiac troponin I by the cAMP-dependent protein kinase--structural consequences and functional implications. Eur J Biochem. 1997 Sep 1;248(2):329-37. [PubMed:9346285 ]
  11. Kedar V, McDonough H, Arya R, Li HH, Rockman HA, Patterson C: Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I. Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18135-40. Epub 2004 Dec 15. [PubMed:15601779 ]
  12. Li MX, Spyracopoulos L, Sykes BD: Binding of cardiac troponin-I147-163 induces a structural opening in human cardiac troponin-C. Biochemistry. 1999 Jun 29;38(26):8289-98. [PubMed:10387074 ]
  13. Wang X, Li MX, Sykes BD: Structure of the regulatory N-domain of human cardiac troponin C in complex with human cardiac troponin I147-163 and bepridil. J Biol Chem. 2002 Aug 23;277(34):31124-33. Epub 2002 Jun 11. [PubMed:12060657 ]
  14. Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T: Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997 Aug;16(4):379-82. [PubMed:9241277 ]
  15. Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ: Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003 Jan;111(2):209-16. [PubMed:12531876 ]
  16. Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ: Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet. 2004 Jan 31;363(9406):371-2. [PubMed:15070570 ]
  17. Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H: Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res. 2009 Aug 14;105(4):375-82. doi: 10.1161/CIRCRESAHA.109.196055. Epub 2009 Jul 9. [PubMed:19590045 ]