ACTN3 and BBS1

		ACTN3	BBS1
Description		actinin alpha 3	Bardet-Biedl syndrome 1
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GO Annotations	Cellular Component	Cytoplasm Cytosol Actin Filament Plasma Membrane Brush Border Focal Adhesion Actin Cytoskeleton Sarcomere Z Disc Cell Junction Cortical Actin Cytoskeleton Pseudopodium Cell Projection Extracellular Exosome	Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Motile Cilium Centriolar Satellite BBSome Cell Projection Ciliary Membrane
	Molecular Function	Actin Binding Integrin Binding Calcium Ion Binding Protein Binding Structural Constituent Of Muscle Identical Protein Binding Transmembrane Transporter Binding Metal Ion Binding Actin Filament Binding	Signaling Receptor Binding Patched Binding Smoothened Binding Protein Binding Phosphoprotein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	Regulation Of The Force Of Skeletal Muscle Contraction Skeletal Muscle Atrophy Transition Between Fast And Slow Fiber Response To Denervation Involved In Regulation Of Muscle Adaptation Actin Cytoskeleton Organization Positive Regulation Of Fast-twitch Skeletal Muscle Fiber Contraction Regulation Of Apoptotic Process Negative Regulation Of Glycolytic Process Focal Adhesion Assembly Positive Regulation Of Skeletal Muscle Tissue Growth Positive Regulation Of Skeletal Muscle Fiber Development Muscle Cell Development Bone Morphogenesis Negative Regulation Of Calcineurin-NFAT Signaling Cascade Regulation Of Muscle System Process Negative Regulation Of Oxidative Phosphorylation Negative Regulation Of Cold-induced Thermogenesis Positive Regulation Of Bone Mineralization Involved In Bone Maturation Negative Regulation Of Relaxation Of Muscle Regulation Of Aerobic Respiration Positive Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate	Microtubule Cytoskeleton Organization Neuron Migration Retina Homeostasis Lipid Metabolic Process Visual Perception Sensory Perception Of Smell Intracellular Protein Localization Photoreceptor Cell Morphogenesis Fertilization Protein Transport Dendrite Development Ventricular System Development Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Response To Endoplasmic Reticulum Stress Olfactory Behavior Hormone Metabolic Process Golgi To Plasma Membrane Protein Transport Fat Cell Differentiation Photoreceptor Cell Maintenance Brain Morphogenesis Cartilage Development Retina Development In Camera-type Eye Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Neural Precursor Cell Proliferation Protein Localization To Cilium Non-motile Cilium Assembly
Pathways		Nephrin family interactions Striated Muscle Contraction	BBSome-mediated cargo-targeting to cilium
Drugs
Diseases			Bardet-Biedl syndrome (BBS)
GWAS		Bipolar disorder ( 21926972) Frontotemporal dementia with GRN mutation ( 29724592)	Bipolar disorder ( 21926972) Height ( 28552196)
Interacting Genes		61 interacting genes: ABI3 ACTN1 ACTN2 ACTN4 ADORA2A ASB9 ATP23 BRCA1 C1orf94 CADPS CATSPERT CIMAP1B CIMIP1 CTAG1A CTAG1B CTDSP1 CXCL5 DDAH2 DUX1 DUX4L9 ECM1 FAM90A1 GLIS2 HGS HOXD12 HSF2BP IVD KCTD6 KRT6C LHX3 LINC01554 LNX1 MAGEA6 MICALL2 MYOT MYOZ1 MYPN NDUFAB1 NEBL NKAPD1 NRAP PCCB PKP2 PLEKHG2 POU6F2 PPP1R18 PTK6 REL RNF111 RTP5 SNAI1 SOHLH1 SUMO1P1 SYNPO2L TRAF1 TRAF2 TRIM29 TTN USP2 ZNF343 ZNF426	13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7
Entrez ID		89	582
HPRD ID		02148	01950
Ensembl ID		ENSG00000248746	ENSG00000174483
Uniprot IDs		A0A087WSZ2 B4DZQ2 Q08043	Q8NFJ9
PDB IDs		1TJT 1WKU 3LUE	6XT9
Enriched GO Terms of Interacting Partners?		Z Disc Pseudopodium Sarcomere Organization Actin Filament Binding Actin Binding Identical Protein Binding Cytoskeletal Protein Binding Actin Cytoskeleton Organization Actin Filament-based Process Structural Constituent Of Muscle Actinin Binding Muscle Alpha-actinin Binding Protein Binding Cardiac Muscle Thin Filament Assembly Actomyosin Structure Organization Actin Cytoskeleton I Band FATZ Binding Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Cytoskeleton Organization Telethonin Binding Stress Fiber Fascia Adherens Supramolecular Fiber Organization Muscle Cell Development Postsynaptic Actin Cytoskeleton Thioesterase Binding	Regulation Of Mitochondrial Membrane Potential Chemical Homeostasis Homeostatic Process Cellular Homeostasis Regulation Of Programmed Cell Death Regulation Of Aerobic Respiration Cytoplasm Positive Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate Regulation Of Cellular Respiration Cytosol Epithelial Cell Proliferation Extrinsic Apoptotic Signaling Pathway Positive Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Osmotic Stress Regulation Of Release Of Cytochrome C From Mitochondria Negative Regulation Of Programmed Cell Death Release Of Cytochrome C From Mitochondria Mitochondrion Organization Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Regulation Of Autophagy Positive Regulation Of Release Of Cytochrome C From Mitochondria Regulation Of Protein Metabolic Process Intracellular Chemical Homeostasis Regulation Of Calcium Ion Transport Into Cytosol Blood Vessel Remodeling Regulation Of Homocysteine Metabolic Process 'de Novo' L-methionine Biosynthetic Process Axon Nucleus Localization Nuclear Migration Centriolar Satellite Microtubule Organizing Center Negative Regulation Of Reactive Oxygen Species Metabolic Process Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Proline Dipeptidase Activity Eye Pigmentation Glyoxal Catabolic Process L-dopa Decarboxylase Activator Activity Guanine Deglycation Protein Deglycase Activity Glyoxalase (glycolic Acid-forming) Activity Glycolate Biosynthetic Process Guanine Deglycation, Methylglyoxal Removal Guanine Deglycation, Glyoxal Removal Detoxification Of Mercury Ion Negative Regulation Of Death-inducing Signaling Complex Assembly Cellular Response To Glyoxal Glyoxal Metabolic Process Positive Regulation Of L-dopa Biosynthetic Process Tyrosine 3-monooxygenase Activator Activity
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