USH2A and POFUT1

		USH2A	POFUT1
Description		usherin	protein O-fucosyltransferase 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	Endoplasmic Reticulum Membrane
	Molecular Function	Protein Binding Collagen Binding Myosin Binding Identical Protein Binding	Transferase Activity Glycosyltransferase Activity Peptide-O-fucosyltransferase 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	Angiogenesis Somitogenesis Fucose Metabolic Process Protein Glycosylation Notch Signaling Pathway Nervous System Development Heart Development Regulation Of Notch Signaling Pathway Protein O-linked Glycosylation Via Fucose
Pathways			Pre-NOTCH Processing in the Endoplasmic Reticulum
Drugs
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)	Blood protein levels ( 30072576) Chronic obstructive pulmonary disease ( 28166215) Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) ( 30940143) Inflammatory bowel disease ( 28067908)
Interacting Genes		3 interacting genes: BRCA1 COL4A3 KRT18	4 interacting genes: AKT2 DLL1 JAG1 NOTCH1
Entrez ID		7399	23509
HPRD ID		09759	06319
Ensembl ID		ENSG00000042781	ENSG00000101346
Uniprot IDs		O75445	Q9H488
PDB IDs			5UX6 5UXH
Enriched GO Terms of Interacting Partners?			Neuron Differentiation Inhibition Of Neuroepithelial Cell Differentiation Regulation Of Timing Of Cell Differentiation Regulation Of Development, Heterochronic Left/right Axis Specification Inner Ear Auditory Receptor Cell Differentiation Hair Cell Differentiation Inner Ear Receptor Cell Differentiation Epidermal Cell Differentiation Nephron Tubule Development Renal Tubule Development Neuronal Stem Cell Population Maintenance Notch Binding Mechanoreceptor Differentiation Tube Morphogenesis Stem Cell Population Maintenance Maintenance Of Cell Number Neuroepithelial Cell Differentiation Distal Tubule Development Negative Regulation Of Inner Ear Auditory Receptor Cell Differentiation Negative Regulation Of Inner Ear Receptor Cell Differentiation Compartment Pattern Specification Positive Regulation Of Notch Signaling Pathway Loop Of Henle Development Negative Regulation Of Epithelial Cell Differentiation Epithelial Cell Differentiation Regulation Of Somitogenesis Regulation Of Neuron Differentiation Heart Looping Embryonic Heart Tube Morphogenesis Positive Regulation Of Cardiac Epithelial To Mesenchymal Transition Kidney Epithelium Development Negative Regulation Of Neuron Differentiation Epithelium Development Regulation Of Inner Ear Auditory Receptor Cell Differentiation Axis Specification Regulation Of Embryonic Development Nephron Development Determination Of Bilateral Symmetry Determination Of Left/right Symmetry Regulation Of Notch Signaling Pathway Negative Regulation Of Epidermal Cell Differentiation Regulation Of Cell Differentiation Blood Vessel Morphogenesis Notch Signaling Pathway Pulmonary Valve Morphogenesis Epithelial Tube Morphogenesis Morphogenesis Of An Epithelium Cell Differentiation Neuroendocrine Cell Differentiation
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