Full name: inositol polyphosphate-5-phosphatase E

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 1200002L24Rik; 72kDa; mKIAA0123

Summary: Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within inositol phosphate dephosphorylation; negative regulation of protein localization to cilium; and phosphatidylinositol dephosphorylation. Located in Golgi membrane; axoneme; and nucleus. Is expressed in several structures, including alimentary system; eye; genitourinary system; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 1. Orthologous to human INPP5E (inositol polyphosphate-5-phosphatase E). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in testis adult (RPKM 26.0), cerebellum adult (RPKM 16.9) and 28 other tissues

Gene size: 13053bp

Exon count: 10