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. 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. 8 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Cell surface; Membrane protein, integral
Chromosomal Location of Human Ortholog: 10q23.33
Cellular Component:  caveola; cytoplasmic vesicle; cytoplasmic vesicle membrane; integral component of membrane; intracellular membrane-bounded organelle; nuclear envelope; nuclear membrane; plasma membrane
Molecular Function:  phospholipid binding; protein binding
Biological Process:  blood circulation; cellular response to heat; glycerol metabolic process; muscle contraction; muscle fiber development; myoblast fusion; plasma membrane repair; regulation of vascular endothelial growth factor receptor signaling pathway; T-tubule organization
Disease: Angioedema, Hereditary, 7
Reference #:  Q9NZM1 (UniProtKB)
Alt. Names/Synonyms: fer-1-like 3, myoferlin; fer-1-like family member 3; Fer-1-like protein 3; FER1L3; FLJ36571; FLJ90777; KIAA1207; MYOF; Myoferlin
Gene Symbols: MYOF
Molecular weight: 234,709 Da
Basal Isoelectric point: 5.84  Predict pI for various phosphorylation states
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myoferlin

Protein Structure Not Found.


Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein