Entity Details

Primary name MYPC3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14896
EntryNameMYPC3_HUMAN
FullNameMyosin-binding protein C, cardiac-type
TaxID9606
Evidenceevidence at protein level
Length1274
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesMYBPC3

GO terms

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GOName
GO:0001671 ATPase activator activity
GO:0003007 heart morphogenesis
GO:0003779 actin binding
GO:0005829 cytosol
GO:0005863 striated muscle myosin thick filament
GO:0006942 regulation of striated muscle contraction
GO:0007155 cell adhesion
GO:0008307 structural constituent of muscle
GO:0014705 C zone
GO:0017022 myosin binding
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0031432 titin binding
GO:0031672 A band
GO:0032036 myosin heavy chain binding
GO:0032781 positive regulation of ATPase activity
GO:0032971 regulation of muscle filament sliding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:0097512 cardiac myofibril

Subcellular Location

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Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR003961 Fibronectin type IIIDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013098 Immunoglobulin I-setDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily
IPR040849 MyBP-C, tri-helix bundle domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615396 OMIMCardiomyopathy, dilated 1MM (CMD1MM)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
615396 OMIMCardiomyopathy, dilated 1MM (CMD1MM)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
115197 OMIMCardiomyopathy, familial hypertrophic 4 (CMH4)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. The disease is caused by variants affecting the gene represented in this entry.