PPIP5K2


Description

The PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2) is a protein-coding gene located on chromosome 5.

Diphosphoinositol pentakisphosphate kinase 2 is a protein that in humans is encoded by the PPIP5K2 gene. Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD1 has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).

PPIP5K2 is a bifunctional inositol kinase that collaborates with IP6K1, IP6K2, and IP6K3 to produce the diphosphate-containing inositol pyrophosphates PP-InsP5 and (PP)2-InsP4. These pyrophosphates, also known as InsP7 and InsP8, are critical regulators of various cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling, and neutrophil activation. PPIP5K2 can phosphorylate inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5, which is subsequently phosphorylated by IP6Ks to generate (PP)2-InsP4. Alternatively, PPIP5K2 can phosphorylate PP-InsP5 at position 1, produced by IP6Ks from InsP6, to form (PP)2-InsP4. PPIP5K2 is essential for normal hearing.

PPIP5K2 is also known as CFAP160, DFNB100, HISPPD1, IP7K2, VIP2.

Associated Diseases


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