ATP6AP2 and BBS1

		ATP6AP2	BBS1
Description		ATPase H+ transporting accessory protein 2	Bardet-Biedl syndrome 1
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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	Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Motile Cilium Centriolar Satellite BBSome Cell Projection Ciliary Membrane
	Molecular Function	Protein Binding Signaling Receptor Activity	Signaling Receptor Binding Patched Binding Smoothened Binding Protein Binding Phosphoprotein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	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	Microtubule Cytoskeleton Organization Neuron Migration Retina Homeostasis Lipid Metabolic Process Visual Perception Sensory Perception Of Smell Intracellular Protein Localization Photoreceptor Cell Morphogenesis Fertilization Protein Transport Dendrite Development Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Response To Endoplasmic Reticulum Stress Olfactory Behavior Hormone Metabolic Process Golgi To Plasma Membrane Protein Transport Fat Cell Differentiation Photoreceptor Cell Maintenance Brain Morphogenesis Cartilage Development Retina Development In Camera-type Eye Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Neural Precursor Cell Proliferation Protein Localization To Cilium Non-motile Cilium Assembly
Pathways		Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation	BBSome-mediated cargo-targeting to cilium
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)	Bardet-Biedl syndrome (BBS)
GWAS		Metabolite levels ( 23823483)	Bipolar disorder ( 21926972) Height ( 28552196)
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	13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7
Entrez ID		10159	582
HPRD ID		06454	01950
Ensembl ID		ENSG00000182220	ENSG00000174483
Uniprot IDs		O75787	Q8NFJ9
PDB IDs		3LBS 3LC8 6WLW 6WM2 6WM3 6WM4 7U4T	6XT9
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	Regulation Of Mitochondrial Membrane Potential Chemical Homeostasis Homeostatic Process Cellular Homeostasis Regulation Of Programmed Cell Death Regulation Of Aerobic Respiration Cytoplasm Positive Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate Regulation Of Cellular Respiration Cytosol Epithelial Cell Proliferation Extrinsic Apoptotic Signaling Pathway Positive Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Osmotic Stress Regulation Of Release Of Cytochrome C From Mitochondria Negative Regulation Of Programmed Cell Death Release Of Cytochrome C From Mitochondria Mitochondrion Organization Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Regulation Of Autophagy Positive Regulation Of Release Of Cytochrome C From Mitochondria Regulation Of Protein Metabolic Process Intracellular Chemical Homeostasis Regulation Of Calcium Ion Transport Into Cytosol Blood Vessel Remodeling Regulation Of Homocysteine Metabolic Process 'de Novo' L-methionine Biosynthetic Process Axon Nucleus Localization Nuclear Migration Centriolar Satellite Microtubule Organizing Center Negative Regulation Of Reactive Oxygen Species Metabolic Process Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Proline Dipeptidase Activity Eye Pigmentation Glyoxal Catabolic Process L-dopa Decarboxylase Activator Activity Guanine Deglycation Protein Deglycase Activity Glyoxalase (glycolic Acid-forming) Activity Glycolate Biosynthetic Process Guanine Deglycation, Methylglyoxal Removal Guanine Deglycation, Glyoxal Removal Detoxification Of Mercury Ion Negative Regulation Of Death-inducing Signaling Complex Assembly Cellular Response To Glyoxal Glyoxal Metabolic Process Positive Regulation Of L-dopa Biosynthetic Process Tyrosine 3-monooxygenase Activator Activity
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