ATP6AP2 and RPGR

		ATP6AP2	RPGR
Description		ATPase H+ transporting accessory protein 2	retinitis pigmentosa GTPase regulator
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GO Annotations	Cellular Component	Golgi Membrane Vacuolar Proton-transporting V-type ATPase, V0 Domain Autophagosome Membrane Cytoplasm Lysosome Lysosomal Membrane Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Plasma Membrane External Side Of Plasma Membrane Endosome Membrane Membrane Vacuolar Proton-transporting V-type ATPase Complex Axon Clathrin-coated Vesicle Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Dendritic Spine Membrane Proton-transporting V-type ATPase Complex Cell Projection Synapse Postsynaptic Membrane Extracellular Exosome Tertiary Granule Membrane Bounding Membrane Of Organelle Ficolin-1-rich Granule Membrane	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	Protein Binding Signaling Receptor Activity	RNA Binding Guanyl-nucleotide Exchange Factor Activity Protein Binding Ubiquitin Protein Ligase Activity
	Biological Process	Angiotensin Maturation Vacuolar Acidification Lysosomal Lumen Acidification Central Nervous System Maturation Rostrocaudal Neural Tube Patterning Positive Regulation Of Wnt Signaling Pathway Positive Regulation Of Transforming Growth Factor Beta1 Production Regulation Of MAPK Cascade Eye Pigmentation Endosomal Lumen Acidification Intracellular PH Reduction Head Morphogenesis Golgi Lumen Acidification Positive Regulation Of Canonical Wnt Signaling Pathway Synaptic Vesicle Lumen Acidification Proton Transmembrane Transport	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		Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation
Drugs
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)	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		Metabolite levels ( 23823483)
Interacting Genes		20 interacting genes: ADRA1A AGT CD72 CREB3 GLP1R HTR2C NINJ1 NKG7 NSG1 PMP22 PTTG1IP REN SEC22A TIMMDC1 TMEM203 TMEM97 UPK2 VAMP5 VKORC1 ZBTB16	15 interacting genes: DCTN1 DCTN2 HOMEZ IFT88 KIF3A KIFAP3 NPM1 PDE6D RNF10 RPGRIP1 SLC25A10 SMC1A SMC3 TUBG1 YWHAE
Entrez ID		10159	6103
HPRD ID		06454	02425
Ensembl ID		ENSG00000182220	ENSG00000156313
Uniprot IDs		O75787	A0A2R8YFT6 Q92834
PDB IDs		3LBS 3LC8 6WLW 6WM2 6WM3 6WM4 7U4T	4JHN 4JHP 4QAM
Enriched GO Terms of Interacting Partners?		Type 2 Angiotensin Receptor Binding Renin-angiotensin Regulation Of Aldosterone Production Membrane Maintenance Of Blood Vessel Diameter Homeostasis By Renin-angiotensin Regulation Of Blood Volume By Renin-angiotensin Establishment Of Protein Localization To Plasma Membrane Regulation Of Blood Pressure Regulation Of Systemic Arterial Blood Pressure By Renin-angiotensin Mesonephros Development Angiotensin-activated Signaling Pathway Renal System Process Involved In Regulation Of Systemic Arterial Blood Pressure Protein Transport Phospholipase C-activating G Protein-coupled Receptor Signaling Pathway Regulation Of Hormone Levels Cell-cell Signaling Blood Vessel Diameter Maintenance Vasoconstriction Positive Regulation Of Cardiac Muscle Hypertrophy Negative Regulation Of Heart Rate Involved In Baroreceptor Response To Increased Systemic Arterial Blood Pressure Cell Communication Regulation Of Tube Size Regulation Of System Process Signaling CGMP-mediated Signaling Kidney Development Regulation Of Lipid Transport Regulation Of Systemic Arterial Blood Pressure Mediated By A Chemical Signal Golgi To Plasma Membrane Protein Transport Vesicle-mediated Transport To The Plasma Membrane Intracellular Protein Localization Establishment Of Protein Localization Glucagon-like Peptide 1 Receptor Activity Regulation Of Monocyte Chemotaxis Ferroptosis Natural Killer Cell Mediated Cytotoxicity Directed Against Tumor Cell Target Positive Regulation Of Deacetylase Activity Postsynaptic Neurotransmitter Receptor Cycle Neurotransmitter Receptor Cycle Vitamin-K-epoxide Reductase (warfarin-insensitive) Activity Positive Regulation Of Inflammatory Response Animal Organ Development Regulation Of Systemic Arterial Blood Pressure Signaling Receptor Binding Protein Localization To Plasma Membrane Regulation Of Heart Contraction Positive Regulation Of The Force Of Heart Contraction By Epinephrine-norepinephrine Positive Regulation Of Heart Rate By Epinephrine-norepinephrine Phospholipase C-activating Adrenergic Receptor Signaling Pathway Norepinephrine-epinephrine Vasoconstriction Involved In Regulation Of Systemic Arterial Blood Pressure G Protein-coupled Receptor Signaling Pathway, Coupled To Cyclic Nucleotide Second Messenger	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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