RPGR and USP9X

		RPGR	USP9X
Description		retinitis pigmentosa GTPase regulator	ubiquitin specific peptidase 9 X-linked
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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	Nucleus Cytoplasm Centrosome Cytosol Cytoskeleton Cilium Membrane Growth Cone Cell Projection
	Molecular Function	RNA Binding Guanyl-nucleotide Exchange Factor Activity Protein Binding Ubiquitin Protein Ligase Activity	Cysteine-type Endopeptidase Activity Cysteine-type Deubiquitinase Activity Protein Binding Peptidase Activity Cysteine-type Peptidase Activity Hydrolase Activity K63-linked Deubiquitinase Activity Co-SMAD Binding Deubiquitinase Activity Molecular Sequestering Activity K11-linked Deubiquitinase Activity K48-linked Deubiquitinase 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	Negative Regulation Of Transcription By RNA Polymerase II Neuron Migration DNA Alkylation Repair Proteolysis Chromosome Segregation Transforming Growth Factor Beta Receptor Signaling Pathway Female Gamete Generation Intracellular Protein Localization Cell Migration Protein Import Into Peroxisome Matrix Protein Import Into Peroxisome Matrix, Receptor Recycling Protein Ubiquitination Protein Deubiquitination BMP Signaling Pathway Regulation Of Protein Stability Positive Regulation Of Protein Binding Negative Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Monoubiquitinated Protein Deubiquitination Regulation Of Circadian Rhythm Rhythmic Process Axon Extension Protein Stabilization Cell Division Cilium Assembly Cytosolic Ciliogenesis Protein K63-linked Deubiquitination Protein Deubiquitination Involved In Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Cilium Assembly Positive Regulation Of TORC2 Signaling Amyloid Fibril Formation
Pathways			Downregulation of SMAD2/3:SMAD4 transcriptional activity Ub-specific processing proteases Synthesis of active ubiquitin: roles of E1 and E2 enzymes RHOU GTPase cycle RHOV GTPase cycle Peroxisomal protein import Peroxisomal protein import Amyloid fiber formation
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			Migraine ( 27322543)
Interacting Genes		15 interacting genes: DCTN1 DCTN2 HOMEZ IFT88 KIF3A KIFAP3 NPM1 PDE6D RNF10 RPGRIP1 SLC25A10 SMC1A SMC3 TUBG1 YWHAE	32 interacting genes: AFDN ALDH1A3 BCL9 CDC123 CTNNB1 DCX DDX3X DVL2 ERG GPSM1 MAP3K5 MCL1 NEAT1 NRP1 PEF1 PEX5 PSD4 PTEN RICTOR RNF115 RSPH1 SGTA SMAD2 SMAD4 SMN2 SMURF1 STIL SUMO2 TDRD3 TIAM1 UBC VHL
Entrez ID		6103	8239
HPRD ID		02425	02091
Ensembl ID		ENSG00000156313	ENSG00000124486
Uniprot IDs		A0A2R8YFT6 Q92834	A0A994J4R6 A0A994J6S4 Q6P468 Q86X58 Q93008
PDB IDs		4JHN 4JHP 4QAM	5VBD 5WCH 7YXX 7YXY
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	Cytoplasm Cytosol I-SMAD Binding Embryonic Axis Specification Positive Regulation Of Metabolic Process Developmental Process SMAD Binding Regulation Of Epithelial To Mesenchymal Transition Cellular Developmental Process Embryonic Pattern Specification Positive Regulation Of Epithelial To Mesenchymal Transition Tissue Morphogenesis Cell Differentiation Activin Responsive Factor Complex Wnt Signaling Pathway Positive Regulation Of RNA Metabolic Process Axis Specification Positive Regulation Of Macromolecule Metabolic Process R-SMAD Binding Morphogenesis Of An Epithelium Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Cranial Ganglion Development Wnt Signaling Pathway, Planar Cell Polarity Pathway Protein Modification By Small Protein Conjugation Regulation Of Cellular Response To Growth Factor Stimulus Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Signal Transduction Positive Regulation Of Ubiquitin-dependent Protein Catabolic Process Cellular Component Assembly SMAD Protein Complex Positive Regulation Of Catabolic Process Heteromeric SMAD Protein Complex Gastrulation Positive Regulation Of Growth Regulation Of Growth Non-canonical Wnt Signaling Pathway Positive Regulation Of Signal Transduction Sympathetic Ganglion Development Positive Regulation Of Developmental Process Positive Regulation Of Proteolysis Involved In Protein Catabolic Process Protein Ubiquitination Embryonic Morphogenesis Post-translational Protein Modification Embryo Development Ending In Birth Or Egg Hatching Multicellular Organism Development Heart Development Embryonic Foregut Morphogenesis Regulation Of Axonogenesis Neuron Migration
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