BBS4 and SPIRE1

Number of citations: 50 (PubMedID 32296183)
Data Source: BioGRID (two hybrid)

		BBS4	SPIRE1
Name		Bardet-Biedl syndrome 4	spire type actin nucleation factor 1
Structure
GO Annotations	Cellular Component	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	Nucleoplasm Cytoplasm Mitochondrial Outer Membrane Cytosol Cytoskeleton Plasma Membrane Cell Cortex Membrane Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Cleavage Furrow Perinuclear Region Of Cytoplasm
	Molecular Function	Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Actin Binding Protein Binding Microtubule Binding
	Biological Process	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	Immune System Process Protein Transport Vesicle-mediated Transport Actin Cytoskeleton Organization Cleavage Furrow Formation Polar Body Extrusion After Meiotic Divisions Actin Nucleation Innate Immune Response Intracellular Transport Golgi Vesicle Transport Establishment Of Meiotic Spindle Localization Actin Filament Network Formation Formin-nucleated Actin Cable Assembly Positive Regulation Of Mitochondrial Fission Positive Regulation Of Double-strand Break Repair
Pathways		BBSome-mediated cargo-targeting to cilium	None
Diseases		Bardet-Biedl syndrome (BBS)	None
GWAS		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 )	Carotid plaque burden ( 28282560 ) Hematocrit ( 32888494 ) Hemoglobin ( 32888494 ) Immune response to smallpox vaccine (IL-6) ( 22542470 ) Red blood cell count ( 32888494 )
Novel Interactors		5 novel interactors: AAGAB ANP32A IGDCC3 MRPL28 SEMA7A	3 novel interactors: CEP192 ETS1 PLEKHA5
Interacting Genes		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	1 interacting genes: BBS4
Entrez ID		585	56907
HPRD ID		08982	11600
Ensembl ID		ENSG00000140463	ENSG00000134278
Uniprot IDs		A0A0S2Z3A9 B4DQR5 Q96RK4	J3KNG6 Q08AE8
PDB IDs		6XT9	2YLE 2YLF 3R7G 3RBW
GO Terms Enriched among Interactors		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	Pericentriolar Material Protein Localization To Centrosome Protein Localization To Cytoskeleton Centrosome Cycle Microtubule Organizing Center Organization Centrosome-templated Microtubule Nucleation Centriole RNA Polymerase II-specific DNA-binding Transcription Factor Binding Procentriole Sensory Processing Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Microtubule Nucleation By Microtubule Organizing Center Protein Localization To Photoreceptor Outer Segment Procentriole Replication Complex BBSome PML Body Organization Microtubule Anchoring At Centrosome Protein Localization To Non-motile Cilium Retinal Rod Cell Development Negative Regulation Of Appetite Fat Pad Development Erythrocyte Homeostasis Leptin-mediated Signaling Pathway Regulation Of Non-motile Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Establishment Of Melanosome Localization Regulation Of Response To Food Sperm Flagellum Assembly Regulation Of Cilium Beat Frequency Photoreceptor Cell Outer Segment Organization Melanosome Localization Microtubule Cytoskeleton Organization Response To Leptin Brain Morphogenesis Microtubule Anchoring Striatum Development Melanosome Transport Ventricular System Development Face Development Pigment Granule Transport Dynactin Binding Retina Homeostasis Microtubule Anchoring At Microtubule Organizing Center Regulation Of Appetite Negative Regulation Of Systemic Arterial Blood Pressure Positive Regulation Of Leukocyte Adhesion To Vascular Endothelial Cell Nuclear Body Organization Reproductive System Development Phosphatidylinositol-5-phosphate Binding Centriole Replication