BBS4

Description		Bardet-Biedl syndrome 4
Image		No pdb structure
GO Annotations	Cellular Component	Pericentriolar Material Photoreceptor Outer Segment Photoreceptor Inner Segment Cell Nucleus Centrosome Centriole Cytosol Cilium Motile Cilium Photoreceptor Connecting Cilium Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Ciliary Membrane Non-motile Cilium
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Microtubule Motor Activity Protein Binding Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding
	Biological Process	Microtubule Cytoskeleton Organization Mitotic Cytokinesis Neuron Migration Neural Tube Closure Retina Homeostasis Heart Looping Negative Regulation Of Systemic Arterial Blood Pressure Centrosome Cycle Spermatid Development Visual Perception Sensory Perception Of Smell Negative Regulation Of Gene Expression Protein Transport Dendrite Development Regulation Of Lipid Metabolic Process Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Adult Behavior Negative Regulation Of Actin Filament Polymerization Melanosome Transport Regulation Of Cytokinesis Protein Localization To Organelle Negative Regulation Of GTPase Activity 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 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 Regulation Of Stress Fiber Assembly Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Face Development Fat Pad Development Protein Localization To Cilium Protein Localization To Centrosome Regulation Of Non-motile Cilium Assembly Protein Localization To Photoreceptor Outer Segment Non-motile Cilium Assembly
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
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)
Interacting Genes		15 interacting genes: ACTB BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG PAX2 PCM1 REL
Entrez ID		585
HPRD ID		08982
Ensembl ID		ENSG00000140463
Uniprot IDs		A0A0S2Z3A9 Q96RK4
PDB IDs
Enriched GO Terms of Interacting Partners?
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