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DYSF
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. Belongs to the ferlin family. Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas. 15 human isoforms generated by alternative promoter usage or alternative splicing have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Calcium-binding; Membrane protein, integral; Vesicle |
| Chromosomal Location of mouse Ortholog: 6 C3|6 36.14 cM |
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Cellular Component:
centriolar satellite; cytoplasm; cytoplasmic vesicle; cytoplasmic vesicle membrane; early endosome; endocytic vesicle; endosome; Golgi apparatus; lamellipodium; late endosome; membrane; membrane microdomain; microtubule; nucleus; plasma membrane; sarcolemma; T-tubule
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Molecular Function:
alpha-tubulin binding; calcium ion binding; calcium-dependent phospholipid binding; lipid binding; metal ion binding; microtubule binding; phospholipid binding; protein binding
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Biological Process:
angiogenesis; cellular response to osmotic stress; cytokine production; fat cell differentiation; glycerol metabolic process; lipid storage; macrophage activation involved in immune response; membrane fusion; monocyte activation involved in immune response; muscle cell development; myotube differentiation; negative regulation of gene expression; negative regulation of high voltage-gated calcium channel activity; negative regulation of microtubule depolymerization; negative regulation of phagocytosis; negative regulation of protein binding; negative regulation of protein catabolic process; negative regulation of protein polyubiquitination; negative regulation of tubulin deacetylation; plasma membrane organization; plasma membrane repair; positive regulation of cell adhesion; positive regulation of endothelial cell proliferation; positive regulation of neutrophil chemotaxis; protein catabolic process; protein polyubiquitination; regulation of calcium ion import; skeletal muscle tissue development; skeletal muscle tissue regeneration; T-tubule organization; vesicle fusion
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Reference #:
Q9ESD7
(UniProtKB)
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Alt. Names/Synonyms: 2310004N10Rik; AI604795; D6Pas3; Dysf; Dysferlin; dysferlin variant a; dysferlin_a; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1; Fer1l1; mFLJ00175; OTTMUSP00000025199
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Gene Symbols: Dysf
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Molecular weight:
237,911 Da
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Basal Isoelectric point:
5.4
Predict pI for various phosphorylation states
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