BBS1

Description		Bardet-Biedl syndrome 1
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GO Annotations	Cellular Component	Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Motile Cilium Centriolar Satellite BBSome Cell Projection Ciliary Membrane
	Molecular Function	Signaling Receptor Binding Patched Binding Smoothened Binding Protein Binding Phosphoprotein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	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		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Bipolar disorder ( 21926972) Height ( 28552196)
Novel Interacting Genes		6 novel interacting genes: ACTN3 ATP6AP2 BAD BAK1 PEPD POLR2G
Interacting Genes		13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7
Entrez ID		582
HPRD ID		01950
Ensembl ID		ENSG00000174483
Uniprot IDs		Q8NFJ9
PDB IDs		6XT9
Enriched GO Terms of Interacting Partners?		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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