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MGP002006

UniProt Annotations

Entry Information

Gene Name	myosin, heavy chain 6, cardiac muscle, alpha
Protein Entry	MYH6_HUMAN
UniProt ID	P13533
Species	Human

Comments

Comment type	Description
Caution	Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6 (MYO6). {ECO:0000305}.
Disease	Atrial septal defect 3 (ASD3) [MIM:614089]: 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. {ECO:0000269\|PubMed:15735645}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]: 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:15998695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]: 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:11815426, ECO:0000269\|PubMed:15998695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Sick sinus syndrome 3 (SSS3) [MIM:614090]: 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. {ECO:0000269\|PubMed:21378987}. Note=Disease susceptibility is associated with variations 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. {ECO:0000269\|PubMed:21378987}.
Domain	Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
Domain	The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
Function	Muscle contraction.
Miscellaneous	The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.
Sequence Caution	Sequence=CAA29120.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. {ECO:0000305}.
Similarity	Contains 1 IQ domain. {ECO:0000255\|PROSITE- ProRule:PRU00116}.
Similarity	Contains 1 myosin motor domain. {ECO:0000305}.
Subcellular Location	Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
Subunit	Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).