PIP5K3 (PIKFYVE) (NM_152671) Human Recombinant Protein

• Background:

  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.[provided by RefSeq, May 2010]

• Synonyms:

  CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29

• Gene ID:

  200576

• UniProt:

  Q9Y2I7

• Accession Number mRNA:

  NM_152671

• Chromosomal Location:

  2q34

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Endocytosis, Fc gamma R-mediated phagocytosis, Inositol phosphate metabolism, Metabolic pathways, Phosphatidylinositol signaling system, Regulation of actin cytoskeleton

• Field of Research:

  Endocytosis, Fc gamma R-mediated phagocytosis, Inositol phosphate metabolism, Metabolic pathways, Phosphatidylinositol signaling system, Regulation of actin cytoskeleton

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  50 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  PIKFYVE

• Species:

  Human

• Protein ID:

  NP_689884

• Overview:

  Recombinant protein of human phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III (PIP5K3), transcript variant 3

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/200576

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q9Y2I7

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_152671

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_689884