InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYH6

Summary

InnateDB Protein

IDBP-292713.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYH6

Protein Name

myosin, heavy chain 6, cardiac muscle, alpha

Synonyms

alpha-MHC; ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3;

Species

Homo sapiens

Ensembl Protein

ENSP00000386041

InnateDB Gene

IDBG-3264 (MYH6)

Protein Structure

UniProt Annotation

Function

Muscle contraction.

Subcellular Localization

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Disease Associations

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:0000269PubMed:15735645}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:11815426, ECO:0000269PubMed:15998695}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:15998695}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed: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:0000269PubMed:21378987}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000146	microfilament motor activity
GO:0003774	motor activity
GO:0003779	actin binding
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0019901	protein kinase binding
GO:0030898	actin-dependent ATPase activity

Biological Process

GO:0001701	in utero embryonic development
GO:0002026	regulation of the force of heart contraction
GO:0002027	regulation of heart rate
GO:0006200	ATP catabolic process
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:0030048	actin filament-based movement
GO:0030049	muscle filament sliding
GO:0030239	myofibril assembly
GO:0030509	BMP signaling pathway
GO:0043462	regulation of ATPase activity
GO:0045214	sarcomere organization
GO:0048739	cardiac muscle fiber development
GO:0055009	atrial cardiac muscle tissue morphogenesis
GO:0055010	ventricular cardiac muscle tissue morphogenesis
GO:0060070	canonical Wnt signaling pathway
GO:0060420	regulation of heart growth

Cellular Component

GO:0001725	stress fiber
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005859	muscle myosin complex
GO:0005925	focal adhesion
GO:0016459	myosin complex
GO:0030016	myofibril
GO:0030017	sarcomere
GO:0030018	Z disc
GO:0032982	myosin filament

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001609 Myosin head, motor domain
IPR002928 Myosin tail
IPR004009 Myosin, N-terminal, SH3-like
IPR009053 Prefoldin
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00612
PF00063
PF01576
PF02736

PRINTS

PR00193

PIRSF

SMART

SM00015
SM00242

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt