InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYOF

Summary

InnateDB Protein

IDBP-82669.6

Last Modified

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

Gene Symbol

MYOF

Protein Name

myoferlin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000352208

InnateDB Gene

IDBG-82667 (MYOF)

Protein Structure

UniProt Annotation

Function

Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note=Concentrated at the membrane sites of both myoblast- myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures. {ECO:0000250}.

Disease Associations

Tissue Specificity

Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain. {ECO:0000269PubMed:11959863, ECO:0000269PubMed:17702744, ECO:0000269PubMed:18502764}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	16 [view]
Protein-DNA	1 [view]
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:0005515	protein binding
GO:0005543	phospholipid binding

Biological Process

GO:0001778	plasma membrane repair
GO:0006936	muscle contraction
GO:0008015	blood circulation
GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway
GO:0034605	cellular response to heat

Cellular Component

GO:0005635	nuclear envelope
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0016021	integral component of membrane
GO:0030659	cytoplasmic vesicle membrane
GO:0031410	cytoplasmic vesicle
GO:0031965	nuclear membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome