myoferlin 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. Belongs to the ferlin family. 8 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell surface; Membrane protein, integral
Chromosomal Location of Human Ortholog: 19|19 C2
Cellular Component:  caveola; cytoplasmic vesicle; integral component of membrane; intracellular membrane-bounded organelle; membrane; nucleus; plasma membrane
Molecular Function:  phospholipid binding
Biological Process:  cellular response to heat; glycerol metabolic process; muscle fiber development; myoblast fusion; plasma membrane repair; regulation of vascular endothelial growth factor receptor signaling pathway; T-tubule organization
Reference #:  Q69ZN7 (UniProtKB)
Alt. Names/Synonyms: 2310004N10Rik; 2310051D19Rik; E030042N20Rik; fer-1-like 3, myoferlin; Fer-1-like protein 3; Fer1l3; Kiaa1207; Myof; Myoferlin
Gene Symbols: Myof
Molecular weight: 233,324 Da
Basal Isoelectric point: 5.83  Predict pI for various phosphorylation states
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myoferlin

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene