EPAS1 and BBS4

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

Data Source:
BioGRID (two hybrid)

		EPAS1	BBS4
Description		endothelial PAS domain protein 1	Bardet-Biedl syndrome 4
Image
GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Cytoplasm Cytosol Nuclear Speck	Pericentriolar Material Photoreceptor Outer Segment Photoreceptor Inner Segment Nucleus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Plasma Membrane Cilium Membrane Motile Cilium Photoreceptor Connecting Cilium Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Cell Projection Ciliary Membrane Non-motile Cilium
	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 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	Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	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	Microtubule Cytoskeleton Organization Mitotic Cytokinesis Neuron Migration Leukocyte Homeostasis B Cell Homeostasis Neural Tube Closure Retina Homeostasis Heart Looping Lymphocyte Homeostasis Myeloid Cell Homeostasis Negative Regulation Of Systemic Arterial Blood Pressure Centrosome Cycle Spermatid Development Sensory Perception Visual Perception Sensory Perception Of Smell Intracellular Protein Localization Gene Expression Negative Regulation Of Gene Expression Protein Transport Wnt Signaling Pathway Dendrite Development Regulation Of Lipid Metabolic Process Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Negative Regulation Of Actin Filament Polymerization Melanosome Transport Regulation Of Cytokinesis Leptin-mediated Signaling Pathway Protein Localization To Organelle Erythrocyte Homeostasis Microtubule Anchoring At Centrosome Social Behavior Photoreceptor Cell Outer Segment Organization Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Positive Regulation Of Multicellular Organism Growth Response To Leptin Fat Cell Differentiation Photoreceptor Cell Maintenance Positive Regulation Of Cilium Assembly Retinal Rod Cell Development Brain Morphogenesis Homeostasis Of Number Of Cells Sensory Processing Maintenance Of Protein Location In Nucleus Regulation Of Stress Fiber Assembly Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Face Development Adipose Tissue Development Fat Pad Development Protein Localization To Cilium Protein Localization To Centrosome Sperm Flagellum Assembly Regulation Of Non-motile Cilium Assembly Protein Localization To Photoreceptor Outer Segment 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 Regulation of PD-L1(CD274) transcription	BBSome-mediated cargo-targeting to cilium
Drugs		Vadadustat Belzutifan
Diseases		Congenital polycythemia; Familial erythrocytosis (ECYT)	Bardet-Biedl syndrome (BBS)
GWAS		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)	Body mass index ( 28448500 29273807) Body mass index (joint analysis main effects and physical activity interaction) ( 28448500) Body mass index in physically active individuals ( 28448500) Mild obesity-related type 2 diabetes ( 34737425) 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)
Interacting Genes		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	23 interacting genes: ACTB BHMT CALCA CATSPERT DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG OAS1 PAX2 PCM1 RARA RARG REL SPIRE1 TOM1 TOM1L2 ZIC1
Entrez ID		2034	585
HPRD ID		06787	08982
Ensembl ID		ENSG00000116016	ENSG00000140463
Uniprot IDs		B3KW07 Q99814	A0A0S2Z3A9 B4DQR5 Q96RK4
PDB IDs		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	6XT9
Enriched GO Terms of Interacting Partners?		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	Nucleus Localization Nuclear Migration Trachea Cartilage Development Glandular Epithelial Cell Development Centriolar Satellite DNA-binding Transcription Factor Activity Microtubule Anchoring At Centrosome Embryonic Organ Development Growth Plate Cartilage Development Positive Regulation Of Metabolic Process Cytoplasm Regulation Of Cell Development Positive Regulation Of Macromolecule Biosynthetic Process Cytosol Response To Peptide Vesicle-mediated Transport Response To Cytokine Microtubule Anchoring At Microtubule Organizing Center Surfactant Homeostasis Cis-regulatory Region Sequence-specific DNA Binding Tube Closure Camera-type Eye Development Cellular Response To Retinoic Acid Neural Tube Closure Columnar/cuboidal Epithelial Cell Development Embryonic Camera-type Eye Development Nucleoplasm Cartilage Development Involved In Endochondral Bone Morphogenesis Positive Regulation Of Biosynthetic Process Microtubule Organizing Center Positive Regulation Of Cell Development Positive Regulation Of Macromolecule Metabolic Process Transcription Regulator Complex Positive Regulation Of Transcription By RNA Polymerase II Response To Retinoic Acid Retinoic Acid Receptor Signaling Pathway Face Development Microtubule Anchoring Positive Regulation Of Nucleobase-containing Compound Metabolic Process Organelle Localization Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Establishment Of Organelle Localization Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Eye Development Protein-containing Complex Tube Formation Negative Regulation Of Cartilage Development Chromatin
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