| Description : |
Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
50 kDa |
| AA Sequence : |
MATDDKTSPTLDSANDLPRSPTSPS HLTHFKPLTPDQDEPPFKSAYSSFV NLFRFNKERAEGGQGEQQPLSGSWT SPQLPSRTQSVRSPTPYKKQLNEEL QRRSSALGDLRACTYCRKIALSYAH STDSNSIGEDLNALSDSACSVSVLD PSEPRTPVGSRKASRNIFLEDDLAW QSLIHPDSSNTPLSTRLVSVQEDAG KSPARNRSASITNLSLDRSGSPMVP SYETSVSPQANRTYVRTETTEDERK ILLDSVQLKDLWKKICHHSSGMEFQ DHRYWLRTHPNCIVGKELVNWLIRN GHIATRAQAIAIGQAMVDGRWLDCV SHHDQLFRDEYALYRPLQSTEFSET PSPDSDSVNSVEGHSEPSWFKDIKF DDSDTEQIAEEGDDNLANSASPSKR TSVSSFQSTVDSDSAASISLNVELD NVNFHIKKPSKYPHVPPHPADQKGR RTRTRPLEQKLISEEDLAANDILDY KDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
