INPP5F est un gène codé par le symbole OCRL. Communément appelé aussi: Inositol polyphosphate 5-phosphatase OCRL; Inositol polyphosphate 5-phosphatase OCRL-1; OCRL-1; Lowe oculocerebrorenal syndrome protein; Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; OCRL; OCRL1. INPP5F a une masse de 104.21kDa, une longueur d'acide aminé de 901, et est impliqué dans les maladies: Lowe oculocerebrorenal syndrome; Dent disease 2.
Nous proposons 6 des anticorps contre INPP5F, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).
Résumé Entrez
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Spécificité tissulaire
Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.
Implication dans la maladie
Lowe oculocerebrorenal syndrome: X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
Dent disease 2: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.
Similitudes de séquence
Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Localisation cellulaire
Cytoplasmic vesicle > Phagosome membrane. Early endosome membrane. Membrane > Clathrin-coated pit. Cell projection > Cilium > Photoreceptor outer segment. Cell projection > Cilium. Cytoplasmic vesicle. Endosome. Golgi apparatus > trans-Golgi network. Lysosome.
Also found on macropinosomes (PubMed:25869668). Colocalized with APPL1 on phagosomes (PubMed:22072788).
