InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYH7

Summary

InnateDB Protein

IDBP-3299.6

Last Modified

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

Gene Symbol

MYH7

Protein Name

myosin, heavy chain 7, cardiac muscle, beta

Synonyms

CMD1S; CMH1; MPD1; MYHCB; SPMD; SPMM;

Species

Homo sapiens

Ensembl Protein

ENSP00000347507

InnateDB Gene

IDBG-3295 (MYH7)

Protein Structure

UniProt Annotation

Function

Muscle contraction.

Subcellular Localization

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

Disease Associations

Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: 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:10065021, ECO:0000269PubMed:10329202, ECO:0000269PubMed:10521296, ECO:0000269PubMed:10563488, ECO:0000269PubMed:10679957, ECO:0000269PubMed:10862102, ECO:0000269PubMed:11113006, ECO:0000269PubMed:11133230, ECO:0000269PubMed:11214007, ECO:0000269PubMed:11424919, ECO:0000269PubMed:11733062, ECO:0000269PubMed:11861413, ECO:0000269PubMed:11968089, ECO:0000269PubMed:12081993, ECO:0000269PubMed:12566107, ECO:0000269PubMed:12590187, ECO:0000269PubMed:12707239, ECO:0000269PubMed:12818575, ECO:0000269PubMed:12820698, ECO:0000269PubMed:12951062, ECO:0000269PubMed:12974739, ECO:0000269PubMed:12975413, ECO:0000269PubMed:1417858, ECO:0000269PubMed:15358028, ECO:0000269PubMed:15483641, ECO:0000269PubMed:1552912, ECO:0000269PubMed:15563892, ECO:0000269PubMed:15856146, ECO:0000269PubMed:15858117, ECO:0000269PubMed:16199542, ECO:0000269PubMed:1638703, ECO:0000269PubMed:16650083, ECO:0000269PubMed:16938236, ECO:0000269PubMed:17372140, ECO:0000269PubMed:18403758, ECO:0000269PubMed:1975517, ECO:0000269PubMed:7581410, ECO:0000269PubMed:7731997, ECO:0000269PubMed:7848441, ECO:0000269PubMed:7874131, ECO:0000269PubMed:8250038, ECO:0000269PubMed:8254035, ECO:0000269PubMed:8268932, ECO:0000269PubMed:8282798, ECO:0000269PubMed:8343162, ECO:0000269PubMed:8435239, ECO:0000269PubMed:8483915, ECO:0000269PubMed:8655135, ECO:0000269PubMed:8899546, ECO:0000269PubMed:9544842, ECO:0000269PubMed:9822100, ECO:0000269PubMed:9829907}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. {ECO:0000269PubMed:14520662, ECO:0000269PubMed:15136674, ECO:0000269PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. {ECO:0000269PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: 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:11106718, ECO:0000269PubMed:12379228, ECO:0000269PubMed:15769782, ECO:0000269PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. {ECO:0000269PubMed:15322983, ECO:0000269PubMed:17548557}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level). {ECO:0000269PubMed:8514894}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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:0030898	actin-dependent ATPase activity

Biological Process

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:0030049	muscle filament sliding
GO:0055010	ventricular cardiac muscle tissue morphogenesis

Cellular Component

GO:0001725	stress fiber
GO:0005634	nucleus
GO:0005737	cytoplasm
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