BBS4

Gene Name		Bardet-Biedl syndrome 4
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Pericentriolar Material Centrosome Centriole Cytosol Cilium Nonmotile Primary Cilium Motile Cilium Centriolar Satellite BBSome Ciliary Basal Body Ciliary Membrane
	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 Neural Tube Closure Retina Homeostasis Heart Looping Negative Regulation Of Systemic Arterial Blood Pressure Organelle Organization Spermatid Development Visual Perception Sensory Perception Of Smell Metabolic Process Negative Regulation Of Gene Expression 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 Nonmotile Primary Cilium Assembly Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Positive Regulation Of Multicellular Organism Growth Cilium Assembly Fat Cell Differentiation Photoreceptor Cell Maintenance Positive Regulation Of Cilium Assembly Retinal Rod Cell Development Intracellular Transport Brain Morphogenesis Sensory Processing Centrosome Organization Maintenance Of Protein Location In Nucleus Cilium Morphogenesis Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Protein Localization To Centrosome
Pathways		Cargo trafficking to the periciliary membrane Organelle biogenesis and maintenance Assembly of the primary cilium BBSome-mediated cargo-targeting to cilium
Drugs
Diseases
GWAS
Protein-protein Interactions		14 interactors: ACTB BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG PAX2 PCM1
Entrez ID		585
HPRD ID		08982
Ensembl ID		ENSG00000140463
Uniprot IDs		Q96RK4
PDB IDs
Enriched GO Terms of Interacting Partners?		Cellular Response To Epidermal Growth Factor Stimulus Response To Epidermal Growth Factor Response To Organic Substance Cellular Response To Growth Factor Stimulus Response To Growth Factor Cellular Response To Organic Substance Regulation Of Nitrogen Compound Metabolic Process Cell Fate Commitment Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Positive Regulation Of Muscle Atrophy Golgi To Plasma Membrane CFTR Protein Transport Vasodilation Of Artery Involved In Baroreceptor Response To Increased Systemic Arterial Blood Pressure Negative Regulation Of Cell Differentiation Stem Cell Differentiation Regulation Of Heart Rate Vesicle-mediated Transport Organelle Organization Pronephric Field Specification Optic Nerve Structural Organization Negative Regulation Of Apoptotic Process Involved In Metanephric Collecting Duct Development Negative Regulation Of Apoptotic Process Involved In Metanephric Nephron Tubule Development Response To Muscle Activity Involved In Regulation Of Muscle Adaptation Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephric Nephron Morphogenesis Positive Regulation Of Metanephric DCT Cell Differentiation Regulation Of Metanephros Size S-methylmethionine Cycle S-methylmethionine Metabolic Process Cellular Metabolic Process Cellular Protein Metabolic Process Transcription From RNA Polymerase II Promoter Regulation Of Cell Differentiation Positive Regulation Of Cellular Biosynthetic Process Organelle Localization Cellular Response To Tumor Necrosis Factor Amino-acid Betaine Catabolic Process Regulation Of Homocysteine Metabolic Process Negative Regulation Of Cytolysis Kidney Rudiment Formation Positive Regulation Of Cellular Metabolic Process G2/M Transition Of Mitotic Cell Cycle Paramesonephric Duct Development Vestibulocochlear Nerve Formation Response To Electrical Stimulus Involved In Regulation Of Muscle Adaptation Metanephric Nephron Tubule Formation Positive Regulation Of Mesenchymal To Epithelial Transition Involved In Metanephros Morphogenesis Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Nephron Morphogenesis Regulation Of Kidney Size Positive Regulation Of Transcription From RNA Polymerase II Promoter Regulation Of Metabolic Process
Tagcloud ?		129p3 6byj acat1 adip5 adipose adpgk crabp1 csk cyp19a1 depot depots dpp8 fatness gonadal hexa il18 intercross linkage lipc lod lsm16 man2c1 mpi1 neil1 qtl retroperitoneal rs30280752 summed thsd4