Mus musculus Protein: Myof
Summary
InnateDB Protein IDBP-162080.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Myof
Protein Name myoferlin
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000045036
InnateDB Gene IDBG-162078 (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. {ECO:0000269PubMed:16280346, ECO:0000269PubMed:17702744, ECO:0000269PubMed:18502764}.
Subcellular Localization Cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Nucleus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures (By similarity). Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels. {ECO:0000250, ECO:0000269PubMed:16280346, ECO:0000269PubMed:17702744}.
Disease Associations
Tissue Specificity Expressed in myoblasts (at protein level). Expressed in endothelial cells. {ECO:0000269PubMed:16280346, ECO:0000269PubMed:17702744}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005543 phospholipid binding
Biological Process
GO:0001778 plasma membrane repair
GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway
GO:0034605 cellular response to heat
Cellular Component
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
Protein Structure and Domains
PDB ID MGI:1919192
InterPro IPR000008 C2 domain
IPR006614 Peroxin/Ferlin domain
IPR012560 Ferlin A-domain
IPR012561 Ferlin B-domain
IPR012968 FerIin domain
PFAM PF00168
PF08165
PF08150
PF08151
PRINTS PR00360
PIRSF
SMART SM00239
SM00693
SM00694
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q69ZN7
PhosphoSite PhosphoSite-Q69ZN7
TrEMBL
UniProt Splice Variant
Entrez Gene 226101
UniGene Mm.34674
RefSeq NP_001093104
MGI ID
MGI Symbol Myof
OMIM
CCDS CCDS37970
HPRD
IMGT
EMBL AC115360 AK031666 AK075903 AK086107 AK087176 AK087302 AK173131 BC025649 BC044825 BC055953
GenPept AAH25649 AAH44825 AAH55953 BAC27500 BAC36043 BAC39611 BAC39820 BAC39840 BAD32409