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

Phosphoinositides; Inositides; 5-phosphatase; INPP5K; SKIP; phosphatidylinositol 3,4,5-trisphosphate; phosphatidylinositol 4,5-bisphosphate; congenital muscular dystrophy; cataract; intellectual disability; insulin signaling; endoplasmic reticulum; endoplasmic reticulum stress; unfolded protein response

Abstract :

[en] 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.

Disciplines :

Biochemistry, biophysics & molecular biology

Author, co-author :

Schurmans, Stéphane ; Université de Liège - ULiège > Département des sciences fonctionnelles (DSF) > Biochimie métabolique vétérinaire

Vande Catsyne, Charles-Andrew ; Université de Liège - ULiège > GIGA

Desmet, Christophe ; Université de Liège - ULiège > I3-Cellular and Molecular Immunology

Moes, Bastien ; Université de Liège - ULiège > Molecular Biology of Diseases-Functional Genetics

Language :

English

Title :

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

Publication date :

2021

Journal title :

Advances in Biological Regulation

ISSN :

2212-4926

eISSN :

2212-4934

Publisher :

Elsevier, Netherlands

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 17 September 2020

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