BBS4 and EPAS1

Data Source:
BioGRID (two hybrid)

		BBS4	EPAS1
Description		Bardet-Biedl syndrome 4	endothelial PAS domain protein 1
Image
GO Annotations	Cellular Component	Pericentriolar Material Nucleus Centrosome Centriole Cytosol Cilium Motile Cilium Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Ciliary Membrane Non-motile Cilium	Chromatin Nucleoplasm Transcription Regulator Complex Cytosol Nuclear Speck
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin 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 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
	Biological Process	Microtubule Cytoskeleton Organization Mitotic Cytokinesis Neural Tube Closure Retina Homeostasis Heart Looping Centrosome Cycle Spermatid Development Visual Perception Sensory Perception Of Smell Protein Transport Dendrite Development Regulation Of Lipid Metabolic Process Striatum Development Hippocampus Development Cerebral Cortex Development Adult Behavior Melanosome Transport Regulation Of Cytokinesis Protein Localization To Organelle Microtubule Anchoring At Centrosome Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Fat Cell Differentiation Photoreceptor Cell Maintenance Positive Regulation Of Cilium Assembly Retinal Rod Cell Development Intracellular Transport Brain Morphogenesis Sensory Processing Maintenance Of Protein Location In Nucleus Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Protein Localization To Cilium Protein Localization To Centrosome Non-motile Cilium Assembly	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
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
Drugs			PT2977
Diseases		Bardet-Biedl syndrome (BBS)	Congenital polycythemia; Familial erythrocytosis (ECYT)
GWAS		Body mass index ( 29273807 28448500) Body mass index (joint analysis main effects and physical activity interaction) ( 28448500) Body mass index in physically active individuals ( 28448500) Theory of mind score in adolescence (Emotional Triangles Task) ( 29472613) Triglycerides ( 30275531) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)	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)
Interacting Genes		21 interacting genes: ACTB BHMT C2CD6 CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG OAS1 PAX2 PCM1 RARA RARG REL SPIRE1 ZIC1	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
Entrez ID		585	2034
HPRD ID		08982	06787
Ensembl ID		ENSG00000140463	ENSG00000116016
Uniprot IDs		A0A0S2Z3A9 Q96RK4	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
Enriched GO Terms of Interacting Partners?
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?