EPAS1 and BBS1

Data Source:
BioGRID (two hybrid)

		EPAS1	BBS1
Description		endothelial PAS domain protein 1	Bardet-Biedl syndrome 1
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GO Annotations	Cellular Component	Chromatin Nucleoplasm Transcription Regulator Complex Cytosol Nuclear Speck	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane
	Molecular Function	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 DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Protein Binding Transcription Factor Binding Histone Acetyltransferase Binding Sequence-specific DNA Binding Protein Heterodimerization Activity	RNA Polymerase II Repressing Transcription Factor Binding Patched Binding Smoothened Binding Protein Binding
	Biological Process	Angiogenesis Response To Hypoxia Embryonic Placenta Development Blood Vessel Remodeling Regulation Of Heart Rate Regulation Of Transcription By RNA Polymerase II Mitochondrion Organization Signal Transduction Visual Perception Protein Ubiquitination Erythrocyte Differentiation Lung Development Norepinephrine Metabolic Process Surfactant Homeostasis Regulation Of Transcription From RNA Polymerase II Promoter In Response To Oxidative Stress Post-translational Protein Modification Positive Regulation Of Transcription By RNA Polymerase II Cell Maturation Myoblast Fate Commitment Iron Ion Homeostasis Regulation Of Transcription From RNA Polymerase II Promoter In Response To Hypoxia Cellular Response To Hypoxia Positive Regulation Of Cold-induced Thermogenesis Regulation Of Protein Neddylation	Visual Perception Sensory Perception Of Smell Golgi To Plasma Membrane Protein Transport Photoreceptor Cell Maintenance Response To Stimulus Cilium Assembly Protein Localization To Cilium Non-motile Cilium Assembly
Pathways		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	BBSome-mediated cargo-targeting to cilium
Drugs		PT2977
Diseases		Congenital polycythemia; Familial erythrocytosis (ECYT)	Bardet-Biedl syndrome (BBS)
GWAS		Birth weight ( 31043758 27680694) 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 ( 25826619 31231134 21131975)	Bipolar disorder ( 21926972) Height ( 28552196)
Interacting Genes		40 interacting genes: APC ARNT ARNT2 ARNTL ARNTL2 BATF BATF2 BATF3 BBS1 BBS2 BBS4 DBP DDIT3 EGLN1 EGLN2 EGLN3 EIF3E EP300 ESR1 ETV4 EWSR1 F12 HSP90AA1 JUN KLHL20 KPNA1 KPNA3 KPNA5 KPNA6 KPNB1 MAX MEF2C NDN PRKD1 SMAD3 SPP1 STAT5A TERF2IP USP20 VHL	13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7
Entrez ID		2034	582
HPRD ID		06787	01950
Ensembl ID		ENSG00000116016	ENSG00000174483
Uniprot IDs		B3KW07 Q99814	Q8NFJ9
PDB IDs		1P97 2A24 3F1N 3F1O 3F1P 3H7W 3H82 4GHI 4GS9 4PKY 4XT2 5KIZ 5TBM 5UFP 6BVB 6CZW 6D09 6D0B 6D0C 6I7Q 6I7R	6XT9
Enriched GO Terms of Interacting Partners?
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