InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYH3

Summary

InnateDB Protein

IDBP-760809.3

Last Modified

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

Gene Symbol

MYH3

Protein Name

Synonyms

HEMHC; MYHC-EMB; MYHSE1; SMHCE;

Species

Homo sapiens

Ensembl Protein

ENSP00000464317

InnateDB Gene

IDBG-30560 (MYH3)

Protein Structure

UniProt Annotation

Function

Muscle contraction.

Subcellular Localization

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

Disease Associations

Arthrogryposis, distal, 2A (DA2A) [MIM:193700]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H- shaped dimple of the chin. {ECO:0000269PubMed:16642020}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269PubMed:16642020}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000146	microfilament motor activity
GO:0003774	motor activity
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0042623	ATPase activity, coupled
GO:0051015	actin filament binding

Biological Process

GO:0003009	skeletal muscle contraction
GO:0006200	ATP catabolic process
GO:0007517	muscle organ development
GO:0030048	actin filament-based movement
GO:0030049	muscle filament sliding
GO:0030326	embryonic limb morphogenesis
GO:0045214	sarcomere organization
GO:0060325	face morphogenesis

Cellular Component

GO:0005829	cytosol
GO:0005859	muscle myosin complex
GO:0016459	myosin complex
GO:0030017	sarcomere
GO:0032982	myosin filament
GO:0043292	contractile fiber
GO:0070062	extracellular vesicular exosome

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