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troponin I, cardiac muscle; cardiac troponin I (TNNI3, TNNC1)
Function:
- troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers Ca+2 sensitivity to striated muscle actomyosin ATPase activity
- binds to actin & tropomyosin
- interacts with TRIM63
Structure: belongs to the troponin I family
Pathology:
- defects in TNNI3 are the cause of:
a) familial hypertrophic cardiomyopathy type 7
b) familial restrictive cardiomyopathy type 1
c) dilated cardiomyopathy type 2A
Related
troponin
troponin-I in serum/plasma
General
troponin-I
Properties
SIZE: entity length = 210 aa
MW = 24 kD
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Ser phosphorylation site {S23}
Ser phosphorylation site {S24}
Involved in binding TNC {32-79}
cysteine residue {80}
cysteine residue {97}
Involved in binding TNC and actin {129-149}
Database Correlations
OMIM correlations
MORBIDMAP 191044
UniProt P19429
Pfam PF00992
Entrez Gene 7137
Kegg hsa:7137
References
- UniProt :accession P19429
- Familial hypertrophic cardiomyopathy mutation database
http://www.angis.org.au/Databases/heart/heartbreak.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI3