Entity Details

Primary name MYH6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP13533
EntryNameMYH6_HUMAN
FullNameMyosin-6
TaxID9606
Evidenceevidence at transcript level
Length1939
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesMYH6

GO terms

Show/Hide Table
GOName
GO:0000146 microfilament motor activity
GO:0001701 in utero embryonic development
GO:0001725 stress fiber
GO:0002026 regulation of the force of heart contraction
GO:0002027 regulation of heart rate
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007512 adult heart development
GO:0007522 visceral muscle development
GO:0008016 regulation of heart contraction
GO:0008217 regulation of blood pressure
GO:0014898 cardiac muscle hypertrophy in response to stress
GO:0016459 myosin complex
GO:0016887 ATP hydrolysis activity
GO:0019901 protein kinase binding
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0030049 muscle filament sliding
GO:0030239 myofibril assembly
GO:0032982 myosin filament
GO:0043462 regulation of ATPase activity
GO:0045214 sarcomere organization
GO:0046034 ATP metabolic process
GO:0051015 actin filament binding
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:0060420 regulation of heart growth

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR000048 IQ motif, EF-hand binding siteSiteBinding site
IPR001609 Myosin head, motor domainDomainDomain
IPR002928 Myosin tailDomainDomain
IPR004009 Myosin, N-terminal, SH3-likeDomainDomain
IPR008989 Myosin S1 fragment, N-terminalFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036961 Kinesin motor domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613251 OMIMCardiomyopathy, familial hypertrophic 14 (CMH14)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.
613252 OMIMCardiomyopathy, dilated 1EE (CMD1EE)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.
614089 OMIMAtrial septal defect 3 (ASD3)A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. The disease is caused by variants affecting the gene represented in this entry.
614090 OMIMSick sinus syndrome 3 (SSS3)The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. Disease susceptibility is associated with variants affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers.