OCRL

Description		OCRL inositol polyphosphate-5-phosphatase
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GO Annotations	Cellular Component	Photoreceptor Outer Segment Nucleus Cytoplasm Lysosome Early Endosome Golgi Stack Golgi-associated Vesicle Trans-Golgi Network Cytosol Plasma Membrane Clathrin-coated Pit Membrane Clathrin-coated Vesicle Phagocytic Vesicle Membrane Early Endosome Membrane
	Molecular Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase Activity Inositol-polyphosphate 5-phosphatase Activity GTPase Activator Activity Protein Binding Rac GTPase Binding Inositol-1,4,5-trisphosphate 5-phosphatase Activity Inositol-1,3,4,5-tetrakisphosphate 5-phosphatase Activity Inositol Phosphate Phosphatase Activity
	Biological Process	In Utero Embryonic Development Lipid Metabolic Process Phosphatidylinositol Biosynthetic Process Signal Transduction Regulation Of GTPase Activity Positive Regulation Of GTPase Activity Inositol Phosphate Metabolic Process Inositol Phosphate Dephosphorylation Phosphatidylinositol Dephosphorylation Regulation Of Small GTPase Mediated Signal Transduction Cilium Assembly Membrane Organization
Pathways		Synthesis of PIPs at the plasma membrane Synthesis of PIPs at the Golgi membrane Synthesis of IP2, IP, and Ins in the cytosol Synthesis of IP3 and IP4 in the cytosol Rho GTPase cycle Golgi Associated Vesicle Biogenesis Clathrin-mediated endocytosis
Drugs
Diseases		Dent disease, including: Dent disease 1; Dent disease 2; X-linked recessive nephrolithiasis ; Hypophosphatemic rickets; Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe syndrome; Oculocerebrorenal Dystrophy (OCRL)
GWAS
Interacting Genes		11 interacting genes: CDC42 CLTC GOLGA5 GRB2 PHETA2 RAB14 RAB1A RAB5A RAB6A RAB8A RAC1
Entrez ID		4952
HPRD ID		02395
Ensembl ID		ENSG00000122126
Uniprot IDs		A0A2X0TVZ9 Q01968 Q504W7
PDB IDs		2KIE 2QV2 3QBT 3QIS 4CMN
Enriched GO Terms of Interacting Partners?
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