BBS1 and EPAS1

Number of citations of the paper that reports this interaction (PubMedID 18000879)
0

Data Source:
BioGRID (two hybrid)

		BBS1	EPAS1
Description		Bardet-Biedl syndrome 1	endothelial PAS domain protein 1
Image
GO Annotations	Cellular Component	Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Motile Cilium Centriolar Satellite BBSome Cell Projection Ciliary Membrane	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Cytoplasm Cytosol Nuclear Speck
	Molecular Function	Signaling Receptor Binding Patched Binding Smoothened Binding Protein Binding Phosphoprotein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	RNA Polymerase II Transcription Regulatory Region Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Cis-regulatory Region Sequence-specific DNA Binding Transcription Coactivator Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Sequence-specific DNA Binding Protein Heterodimerization Activity Protein Dimerization Activity 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	Angiogenesis Response To Hypoxia Embryonic Placenta Development Blood Vessel Remodeling Regulation Of Heart Rate Epithelial Cell Maturation Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Transcription By RNA Polymerase II Response To Oxidative Stress Mitochondrion Organization Signal Transduction Visual Perception Gene Expression Hemopoiesis Cell Differentiation Erythrocyte Differentiation Lung Development Intracellular Oxygen Homeostasis Norepinephrine Metabolic Process MRNA Transcription By RNA Polymerase II Surfactant Homeostasis Positive Regulation Of Transcription By RNA Polymerase II Myoblast Fate Commitment Multicellular Organismal-level Iron Ion Homeostasis Cellular Response To Hypoxia Positive Regulation Of Cold-induced Thermogenesis Regulation Of Protein Neddylation
Pathways		BBSome-mediated cargo-targeting to cilium	Regulation of gene expression by Hypoxia-inducible Factor Cellular response to hypoxia Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Transcriptional regulation of pluripotent stem cells PTK6 Expression Neddylation Pexophagy Regulation of PD-L1(CD274) transcription
Drugs			Vadadustat Belzutifan
Diseases		Bardet-Biedl syndrome (BBS)	Congenital polycythemia; Familial erythrocytosis (ECYT)
GWAS		Bipolar disorder ( 21926972) Height ( 28552196)	Appendicular lean mass ( 33097823) Birth weight ( 27680694 31043758) Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) ( 26252872) Craniofacial microsomia ( 26853712) Diisocyanate-induced asthma ( 25918132) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Facial morphology ( 29921221) Hematocrit ( 32888494) Hemoglobin ( 32888494) Hemoglobin levels ( 30188897) High altitude adaptation ( 28373541) Offspring birth weight ( 31043758) Oxygenated hemoglobin levels ( 30188897) P wave duration ( 28794112) Peak velocity of the mitral A-wave ( 28394258) PR interval ( 32439900) Refractive error ( 32231278) Renal cell carcinoma ( 21131975 31231134 25826619)
Interacting Genes		13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7	41 interacting genes: APC ARNT ARNT2 BATF BATF2 BATF3 BBS1 BBS2 BBS4 BMAL1 BMAL2 CHD4 DBP DDIT3 EGLN1 EGLN2 EGLN3 EIF3E EP300 ESR1 ETV4 EWSR1 F12 JUN KLHL20 KPNA1 KPNA3 KPNA5 KPNA6 KPNB1 MAX MEF2C NDN PRKD1 SMAD3 SPP1 STAT5A TERF2IP UBE3B USP20 VHL
Entrez ID		582	2034
HPRD ID		01950	06787
Ensembl ID		ENSG00000174483	ENSG00000116016
Uniprot IDs		Q8NFJ9	B3KW07 Q99814
PDB IDs		6XT9	1P97 2A24 3F1N 3F1O 3F1P 3H7W 3H82 4GHI 4GS9 4PKY 4XT2 5KIZ 5TBM 5UFP 6BVB 6CZW 6D09 6D0B 6D0C 6I7Q 6I7R 6X21 6X28 6X2H 6X37 6X3D 7Q5V 7Q5X 7UJV 8CK3 8CK4 8CK8 8Q5S 8Q64 8Q6D 8Q6E 8RUT 8RUV 8RUZ 8RV1
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	Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of Nucleobase-containing Compound Metabolic Process Chromatin DNA-binding Transcription Factor Activity Positive Regulation Of RNA Metabolic Process RNA Polymerase II Transcription Regulator Complex Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of Metabolic Process Regulation Of Primary Metabolic Process Positive Regulation Of Transcription By RNA Polymerase II NLS-dependent Protein Nuclear Import Complex Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Macromolecule Metabolic Process RNA Polymerase II-specific DNA-binding Transcription Factor Binding Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Regulation Of Metabolic Process Positive Regulation Of Biosynthetic Process Regulation Of Gene Expression Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Metabolic Process Nucleus RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Regulation Of Macromolecule Biosynthetic Process Regulation Of Transcription By RNA Polymerase II Nucleoplasm Nuclear Import Signal Receptor Activity DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Nuclear Localization Sequence Binding Aryl Hydrocarbon Receptor Complex NLS-bearing Protein Import Into Nucleus Transcription Regulator Complex DNA-binding Transcription Factor Binding Peptidyl-proline 4-dioxygenase Activity Integrated Stress Response Signaling Cellular Response To Stress Hypoxia-inducible Factor-proline Dioxygenase Activity DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Sequence-specific Double-stranded DNA Binding Protein Localization To Organelle Response To Stress Response To Hypoxia BBSome Response To Decreased Oxygen Levels Aryl Hydrocarbon Receptor Binding Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Response To Oxygen Levels Cytoplasm
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