MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001997

UniProt Annotations

Entry Information
Gene Namemyosin binding protein C, cardiac
Protein EntryMYPC3_HUMAN
UniProt IDQ14896
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14896-1; Sequence=Displayed; Name=2; IsoId=Q14896-2; Sequence=VSP_047141;
DiseaseCardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:20215591}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: 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. {ECO:0000269|PubMed:11499718, ECO:0000269|PubMed:11499719, ECO:0000269|PubMed:11815426, ECO:0000269|PubMed:12379228, ECO:0000269|PubMed:12628722, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12818575, ECO:0000269|PubMed:12951062, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:14563344, ECO:0000269|PubMed:15114369, ECO:0000269|PubMed:15519027, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:18957093, ECO:0000269|PubMed:23840593, ECO:0000269|PubMed:7744002, ECO:0000269|PubMed:9048664, ECO:0000269|PubMed:9541104, ECO:0000269|PubMed:9541115, ECO:0000269|PubMed:9562578}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLeft ventricular non-compaction 10 (LVNC10) [MIM:615396]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. {ECO:0000269|PubMed:21551322}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
InteractionSelf; NbExp=2; IntAct=EBI-704176, EBI-704176;
PtmSubstrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity). {ECO:0000250}.
SimilarityBelongs to the immunoglobulin superfamily. MyBP family. {ECO:0000305}.
SimilarityContains 3 fibronectin type-III domains. {ECO:0000255|PROSITE-ProRule:PRU00316}.
SimilarityContains 7 Ig-like C2-type (immunoglobulin-like) domains. {ECO:0000305}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mybpc3/";
  logo