RPGR

Description		retinitis pigmentosa GTPase regulator
Image
GO Annotations	Cellular Component	Photoreceptor Outer Segment Cytoplasm Golgi Apparatus Centrosome Microtubule Organizing Center Cytoskeleton Cilium Motile Cilium Photoreceptor Connecting Cilium Ciliary Basal Body Sperm Flagellum Cell Projection Photoreceptor Cell Cilium
	Molecular Function	RNA Binding Guanyl-nucleotide Exchange Factor Activity Protein Binding Ubiquitin Protein Ligase Activity
	Biological Process	Ubiquitin-dependent Protein Catabolic Process Intracellular Protein Transport Visual Perception Positive Regulation Of Autophagy Protein Ubiquitination Cell Projection Organization Intraciliary Transport Eye Photoreceptor Cell Development Cilium Organization Cilium Assembly Protein Localization To Non-motile Cilium
Pathways
Drugs
Diseases		Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA) Retinitis pigmentosa (RP) Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
GWAS
Novel Interacting Genes		5 novel interacting genes: ATP6AP2 NUDT12 SLC9A7 TSPAN7 USP9X
Interacting Genes		15 interacting genes: DCTN1 DCTN2 HOMEZ IFT88 KIF3A KIFAP3 NPM1 PDE6D RNF10 RPGRIP1 SLC25A10 SMC1A SMC3 TUBG1 YWHAE
Entrez ID		6103
HPRD ID		02425
Ensembl ID		ENSG00000156313
Uniprot IDs		A0A2R8YFT6 Q92834
PDB IDs		4JHN 4JHP 4QAM
Enriched GO Terms of Interacting Partners?		Cilium Microtubule-based Process Centrosome Microtubule Cytoskeleton Microtubule Cytoskeleton Organization Involved In Mitosis Cilium Organization Organelle Assembly Mitotic Spindle Organization Establishment Of Meiotic Sister Chromatid Cohesion Kinesin II Complex Non-motile Cilium Establishment Of Vesicle Localization Microtubule Cytoskeleton Organization Vesicle Localization Cilium Assembly Establishment Of Organelle Localization Meiotic Cohesin Complex Mediator Complex Binding Spindle Microtubule Cytoskeleton Plus-end-directed Vesicle Transport Along Microtubule Ciliary Tip Establishment Of Localization In Cell Condensed Nuclear Chromosome Cohesin Complex Establishment Of Mitotic Sister Chromatid Cohesion Mitotic Cohesin Complex Plus-end-directed Organelle Transport Along Microtubule Non-motile Cilium Assembly Organelle Organization Centriole Spindle Organization Establishment Of Sister Chromatid Cohesion Transport Along Microtubule Plasma Membrane Bounded Cell Projection Assembly Cell Projection Assembly Microtubule Anchoring At Centrosome Cytoskeleton-dependent Intracellular Transport Centriole-centriole Cohesion Microtubule Anchoring At Microtubule Organizing Center Microtubule-based Transport Axo-dendritic Transport Organelle Localization Intercellular Bridge Protein Phosphatase Binding Mitotic Sister Chromatid Cohesion Intracellular Transport Melanosome Transport Establishment Of Melanosome Localization Pigment Granule Transport
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