BBS1

Gene Name		Bardet-Biedl syndrome 1
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Patched Binding Smoothened Binding Protein Binding
	Biological Process	Retina Homeostasis Organelle Organization Visual Perception Nonmotile Primary Cilium Assembly Cilium Assembly Golgi To Plasma Membrane Protein Transport Photoreceptor Cell Maintenance Response To Stimulus Protein Localization To Cilium
Pathways		Cargo trafficking to the periciliary membrane Organelle biogenesis and maintenance Assembly of the primary cilium BBSome-mediated cargo-targeting to cilium
Drugs
Diseases
GWAS		Bipolar disorder ( 21926972)
Protein-protein Interactions		13 interactors: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7
Entrez ID		582
HPRD ID		01950
Ensembl ID		ENSG00000174483
Uniprot IDs		E7EQH1 Q32MM9 Q8NFJ9
PDB IDs
Enriched GO Terms of Interacting Partners?		Cellular Response To Epidermal Growth Factor Stimulus Response To Epidermal Growth Factor Positive Regulation Of Interleukin-8 Production Response To Organic Substance Cellular Response To Oxidative Stress Cellular Response To Organic Substance Positive Regulation Of Lyase Activity Cellular Response To Hydrogen Peroxide Optic Chiasma Development Positive Regulation Of L-dopa Decarboxylase Activity Positive Regulation Of L-dopa Biosynthetic Process Glyoxal Catabolic Process Positive Regulation Of Dopamine Biosynthetic Process Positive Regulation Of Oxidative Phosphorylation Uncoupler Activity Positive Regulation Of Tyrosine 3-monooxygenase Activity Positive Regulation Of Pyrroline-5-carboxylate Reductase Activity Negative Regulation Of TRAIL-activated Apoptotic Signaling Pathway Negative Regulation Of Ubiquitin-specific Protease Activity Positive Regulation Of Optic Nerve Formation Negative Regulation Of Death-inducing Signaling Complex Assembly Negative Regulation Of Protein K48-linked Deubiquitination Positive Regulation Of Androgen Receptor Activity Enzyme Active Site Formation Via L-cysteine Sulfinic Acid Golgi To Plasma Membrane CFTR Protein Transport Glycolate Biosynthetic Process Methylglyoxal Catabolic Process To D-lactate Cellular Response To Glyoxal Vasodilation Of Artery Involved In Baroreceptor Response To Increased Systemic Arterial Blood Pressure Positive Regulation Of Superoxide Dismutase Activity Cellular Protein Metabolic Process Regulation Of Heart Rate Negative Regulation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Negative Regulation Of Cysteine-type Endopeptidase Activity Positive Regulation Of Cellular Biosynthetic Process Negative Regulation Of Hydrogen Peroxide-induced Neuron Intrinsic Apoptotic Signaling Pathway Pronephric Field Specification Optic Nerve Structural Organization Negative Regulation Of Apoptotic Process Involved In Metanephric Collecting Duct Development Negative Regulation Of Apoptotic Process Involved In Metanephric Nephron Tubule Development Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephric Nephron Morphogenesis Peptidyl-cysteine Oxidation Positive Regulation Of Mitochondrial Electron Transport, NADH To Ubiquinone Positive Regulation Of Metanephric DCT Cell Differentiation Regulation Of Metanephros Size S-methylmethionine Cycle S-methylmethionine Metabolic Process Regulation Of Superoxide Dismutase Activity Positive Regulation Of Cellular Metabolic Process Response To Oxidative Stress Cellular Response To Reactive Oxygen Species
Tagcloud ?		abca4 allelic audiogram c2orf71 cerkl crb1 decisive deepen denaturing dhplc discern dystrophies electrophysiology fundus homozygosity hrm intrafamilial melt mlpa monoallelic ngs pde6b pedigrees rd rdh12 sanger sscp tulp1 ush2a