The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.

Autor: Schurmans S; Laboratoire de Génétique Fonctionnelle, GIGA-Research Centre, Building B34, CHU Sart-Tilman, Université de Liège, Avenue de l'Hôpital 11, 4000-Liège, Belgium; Secteur de Biochimie Métabolique Vétérinaire, Département des Sciences Fonctionnelles, Faculté de Médecine Vétérinaire, Building B42, Université de Liège, Quartier Vallée 2, Avenue de Cureghem 7A-7D, 4000-Liège, Belgium. Electronic address: sschurmans@uliege.be., Vande Catsyne CA; Laboratoire de Génétique Fonctionnelle, GIGA-Research Centre, Building B34, CHU Sart-Tilman, Université de Liège, Avenue de l'Hôpital 11, 4000-Liège, Belgium., Desmet C; Laboratory of Cellular and Molecular Immunology, GIGA-Research Centre, Building B34, CHU Sart-Tilman, Université de Liège, Avenue de l'Hôpital 11, 4000-Liège, Belgium., Moës B; Laboratoire de Génétique Fonctionnelle, GIGA-Research Centre, Building B34, CHU Sart-Tilman, Université de Liège, Avenue de l'Hôpital 11, 4000-Liège, Belgium.
Jazyk: angličtina
Zdroj: Advances in biological regulation [Adv Biol Regul] 2021 Jan; Vol. 79, pp. 100760. Date of Electronic Publication: 2020 Oct 10.
DOI: 10.1016/j.jbior.2020.100760
Abstrakt: INPP5K (Inositol Polyphosphate 5-Phosphatase K, or SKIP (for Skeletal muscle and Kidney enriched Inositol Phosphatase) is a member of the phosphoinositide 5-phosphatases family. Its protein structure is comprised of a N-terminal catalytic domain which hydrolyses both PtdIns(4,5)P2 and PtdIns(3,4,5)P3, followed by a SKICH domain at the C-terminus which is responsible for protein-protein interactions and subcellular localization of INPP5K. Strikingly, INPP5K is mostly concentrated in the endoplasmic reticulum, although it is also detected at the plasma membrane, in the cytosol and the nucleus. Recently, mutations in INPP5K have been detected in patients with a rare form of autosomal recessive congenital muscular dystrophy with cataract, short stature and intellectual disability. INPP5K functions extend from control of insulin signaling, endoplasmic reticulum stress response and structural integrity, myoblast differentiation, cytoskeleton organization, cell adhesion and migration, renal osmoregulation, to cancer. The goal of this review is thus to summarize and comment recent and less recent data in the literature on INPP5K, in particular on the structure, expression, intracellular localization, interactions and functions of this specific member of the 5-phosphatases family.
(Copyright © 2020. Published by Elsevier Ltd.)
Databáze: MEDLINE
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