OCRL

Gene Name		oculocerebrorenal syndrome of Lowe
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Gene Ontology Annotations	Cellular Component	Photoreceptor Outer Segment Nucleus Cytoplasm Early Endosome Golgi Stack Golgi-associated Vesicle Trans-Golgi Network Cytosol Plasma Membrane Coated Pit Clathrin-coated Vesicle Phagocytic Vesicle Membrane Early Endosome Membrane Extracellular Vesicular Exosome
	Molecular Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase Activity Protein Binding Rac GTPase Activator Activity Rac GTPase Binding Inositol Phosphate Phosphatase Activity
	Biological Process	In Utero Embryonic Development Lipid Metabolic Process Phospholipid Metabolic Process Phosphatidylinositol Biosynthetic Process Small GTPase Mediated Signal Transduction Regulation Of Rac GTPase Activity Positive Regulation Of Rac GTPase Activity Cilium Assembly Inositol Phosphate Metabolic Process Small Molecule Metabolic Process Phosphatidylinositol Dephosphorylation Regulation Of Small GTPase Mediated Signal Transduction
Pathways		Synthesis of PIPs at the Golgi membrane Metabolism of lipids and lipoproteins Golgi Associated Vesicle Biogenesis Clathrin derived vesicle budding Inositol phosphate metabolism Rho GTPase cycle Synthesis of IP3 and IP4 in the cytosol Synthesis of IP2, IP, and Ins in the cytosol Signaling by Rho GTPases Phospholipid metabolism trans-Golgi Network Vesicle Budding PI Metabolism
Drugs
Diseases
GWAS
Protein-protein Interactions		10 interactors: CDC42 CLTC GOLGA5 GRB2 RAB14 RAB1A RAB5A RAB6A RAB8A RAC1
Entrez ID		4952
HPRD ID		02395
Ensembl ID		ENSG00000122126
Uniprot IDs		Q01968
PDB IDs		2KIE 2QV2 3QBT 3QIS
Enriched GO Terms of Interacting Partners?		Vesicle-mediated Transport Small GTPase Mediated Signal Transduction Rab Protein Signal Transduction Ras Protein Signal Transduction Golgi Vesicle Transport Endocytosis Cellular Protein Localization Cellular Localization Intracellular Transport Intracellular Signal Transduction Protein Localization Establishment Of Localization In Cell Transport Endomembrane System Organization Intracellular Protein Transport Receptor Internalization Organelle Transport Along Microtubule Phagocytosis T Cell Costimulation Golgi Organization Receptor Metabolic Process Cell Morphogenesis Involved In Differentiation Establishment Of Organelle Localization Protein Transport Establishment Of Protein Localization Membrane Organization Regulation Of Cell Projection Assembly Cell-cell Signaling Organelle Localization Blood Coagulation Microtubule-based Transport Hemostasis Cytoskeleton-dependent Intracellular Transport Fc-gamma Receptor Signaling Pathway Involved In Phagocytosis Fc-gamma Receptor Signaling Pathway Fc Receptor Mediated Stimulatory Signaling Pathway Cell Morphogenesis Cellular Component Assembly Axonogenesis Positive Regulation Of Phosphatidylinositol 3-kinase Activity Positive Regulation Of Substrate Adhesion-dependent Cell Spreading Organelle Organization Axon Development Regulation Of Body Fluid Levels Cell Morphogenesis Involved In Neuron Differentiation Establishment Of Vesicle Localization Wound Healing Endosomal Transport Regulation Of Long-term Neuronal Synaptic Plasticity Positive Regulation Of T Cell Activation
Tagcloud ?		1016790a cataracts cilia ciliary cilium congenital eye glaucoma gli1 hydrostatic inositol intraocular lowe mechanosensation mechanosensory mechanotransduction meshwork organelles polyphosphate pressure senses shed shorten shortened tm trabecular trpv4 vanilloid vesicular