BBS4 and MRPL28

		BBS4	MRPL28
Description		Bardet-Biedl syndrome 4	mitochondrial ribosomal protein L28
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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	Mitochondrion Mitochondrial Inner Membrane Mitochondrial Ribosome Mitochondrial Large Ribosomal Subunit Cytosol Ribosome Ribonucleoprotein Complex
	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	RNA Binding Structural Constituent Of Ribosome Protein 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	Translation Mitochondrial Translation
Pathways		BBSome-mediated cargo-targeting to cilium	Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation elongation Mitochondrial translation termination Mitochondrial ribosome-associated quality control
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
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)	Body mass index ( 26426971) Heel bone mineral density ( 28869591) Refractive error ( 32231278)
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	29 interacting genes: ABI2 APP APPBP2 BANP CDCA7L CDR2 ENKD1 FAM9B HMBOX1 HSPB1 HTR2A IKZF3 LARP1B LENG1 LRRK2 NFKBID OXA1L PPL SCNM1 TEF TRAF3IP2 TRAF4 TSHZ3 TSSK3 TUBB3 UPP2 USP2 USP20 ZNF655
Entrez ID		585	10573
HPRD ID		08982	06889
Ensembl ID		ENSG00000140463	ENSG00000086504
Uniprot IDs		A0A0S2Z3A9 B4DQR5 Q96RK4	Q13084
PDB IDs		6XT9	3J7Y 5OOL 5OOM 6I9R 6NU2 6NU3 6VLZ 6VMI 6ZM5 6ZM6 6ZS9 6ZSA 6ZSB 6ZSC 6ZSD 6ZSE 6ZSG 7A5F 7A5G 7A5H 7A5I 7A5J 7A5K 7L08 7L20 7O9K 7O9M 7ODR 7ODS 7ODT 7OF0 7OF2 7OF3 7OF4 7OF5 7OF6 7OF7 7OG4 7OI6 7OI7 7OI8 7OI9 7OIA 7OIB 7OIC 7OID 7OIE 7PD3 7PO4 7QH6 7QH7 7QI4 7QI5 7QI6 8ANY 8JAV 8K2A 8K2B 8OIR 8OIT 8PK0 8QSJ 8QU1 8QU5 8RRI 8XT0 8XT1 8XT2 8XT3
Enriched GO Terms of Interacting Partners?		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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