USH2A and MARK1

		USH2A	MARK1
Description		usherin	microtubule affinity regulating kinase 1
Image		No pdb structure
GO Annotations	Cellular Component	Photoreceptor Inner Segment Stereocilia Ankle Link Stereocilia Ankle Link Complex Extracellular Region Basement Membrane Cytoplasm Plasma Membrane Membrane Apical Plasma Membrane Photoreceptor Connecting Cilium Stereocilium Bundle Ciliary Basal Body Cell Projection Neuronal Cell Body Terminal Bouton Stereocilium Membrane Periciliary Membrane Compartment USH2 Complex	Cytoplasm Cytoskeleton Plasma Membrane Microtubule Cytoskeleton Membrane Dendrite Cell Projection Postsynapse Glutamatergic Synapse
	Molecular Function	Protein Binding Collagen Binding Myosin Binding Identical Protein Binding	Nucleotide Binding Magnesium Ion Binding Phosphatidylserine Binding Protein Kinase Activity Protein Serine/threonine Kinase Activity Protein Binding ATP Binding Phosphatidylinositol-4,5-bisphosphate Binding Lipid Binding Kinase Activity Transferase Activity Metal Ion Binding Tau Protein Binding Tau-protein Kinase Activity Phosphatidic Acid Binding Protein Serine Kinase Activity
	Biological Process	Visual Perception Sensory Perception Of Sound Hair Cell Differentiation Inner Ear Auditory Receptor Cell Differentiation Establishment Of Protein Localization Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Animal Organ Development Sensory Perception Of Light Stimulus Establishment Of Localization In Cell Inner Ear Receptor Cell Differentiation	Microtubule Cytoskeleton Organization Neuron Migration Protein Phosphorylation Cytoskeleton Organization Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Negative Regulation Of Epithelial To Mesenchymal Transition Regulation Of Neuron Projection Development Wnt Signaling Pathway Intracellular Signal Transduction Regulation Of Dendrite Development Establishment Of Mitochondrion Localization Regulation Of Postsynapse Assembly
Pathways
Drugs			Fostamatinib
Diseases		Usher syndrome (US) Retinitis pigmentosa (RP)
GWAS		Birth weight ( 31043758) Cholesterol ( 31902109) Chronic mucus hypersecretion ( 25234806) Femur bone mineral density x serum urate levels interaction ( 34046847) Gut microbiota (bacterial taxa, hurdle binary method) ( 32572223) Prepulse inhibition of the startle response ( 31596458)	Bipolar disorder ( 22205951) Breast size ( 27182965) Fat distribution (HIV) ( 21897333)
Interacting Genes		3 interacting genes: BRCA1 COL4A3 KRT18	11 interacting genes: CCDC102B GJA5 INCA1 MAP2 MAP4 MAPT STK11 TAOK1 TCL1B TFAP2A YAF2
Entrez ID		7399	4139
HPRD ID		09759	07353
Ensembl ID		ENSG00000042781	ENSG00000116141
Uniprot IDs		O75445	A0A087X0I6 B4DIB3 Q9P0L2 X5D2M4
PDB IDs			2HAK 3OSE 6C9D
Enriched GO Terms of Interacting Partners?			Regulation Of Microtubule-based Process Positive Regulation Of Vesicle Transport Along Microtubule Main Axon Central Nervous System Neuron Development Regulation Of Microtubule-based Movement Neuronal Cell Body Neuron Development Tubulin Binding Regulation Of Organelle Transport Along Microtubule Negative Regulation Of Growth Embryonic Limb Morphogenesis Atrial Septum Morphogenesis Limb Morphogenesis Regulation Of Microtubule Polymerization Or Depolymerization Positive Regulation Of Stress-activated MAPK Cascade Generation Of Neurons Microtubule Polymerization Negative Regulation Of Developmental Process Regulation Of Growth Regulation Of Axonogenesis Isotype Switching To IgA Isotypes DN3 Thymocyte Differentiation Gap Junction Channel Activity Involved In Purkinje Myocyte-ventricular Cardiac Muscle Cell Electrical Coupling Mitral Valve Development Septum Primum Development Gap Junction Channel Activity Involved In Atrial Cardiac Muscle Cell-AV Node Cell Electrical Coupling Atrial Ventricular Junction Remodeling Gap Junction Channel Activity Involved In Bundle Of His Cell-Purkinje Myocyte Electrical Coupling Ventricular Septum Morphogenesis Positive Regulation Of Cell Communication By Chemical Coupling Atrial Cardiac Muscle Cell To AV Node Cell Communication By Electrical Coupling Skeletal System Development Vasomotion Purkinje Myocyte To Ventricular Cardiac Muscle Cell Communication By Electrical Coupling Regulation Of Purkinje Myocyte Action Potential Negative Regulation Of Cell Population Proliferation Axon Negative Regulation Of Cell Growth Regulation Of Cell Growth Regulation Of Microtubule Cytoskeleton Organization Microtubule Cytoskeleton Organization Apical Distal Dendrite Negative Regulation Of Microtubule Polymerization Or Depolymerization Tau Protein Binding Microtubule Associated Complex Microtubule Polymerization Or Depolymerization Histone-dependent DNA Binding Tubulin Complex Microtubule Lateral Binding Optic Cup Structural Organization
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