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 Basement Membrane Cytoplasm Integral Component Of Membrane Apical Plasma Membrane Photoreceptor Connecting Cilium Stereocilium Bundle Ciliary Basal Body 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	Fucosyltransferase Activity Peptide-O-fucosyltransferase Activity
	Biological Process	Visual Perception Sensory Perception Of Sound Animal Organ Morphogenesis Tissue Development Hair Cell Differentiation Establishment Of Protein Localization Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Response To Stimulus Sensory Perception Of Light Stimulus Inner Ear Receptor Cell Differentiation	Angiogenesis Somitogenesis Fucose Metabolic Process Regulation Of Transcription, DNA-templated Protein O-linked Glycosylation Notch Signaling Pathway Nervous System Development Heart Development Regulation Of Notch Signaling Pathway O-glycan Processing Protein O-linked Fucosylation
Pathways			Pre-NOTCH Processing in the Endoplasmic Reticulum
Drugs
Diseases		Usher syndrome (US) Retinitis pigmentosa (RP)
GWAS		Birth weight ( 31043758) Chronic mucus hypersecretion ( 25234806) Prepulse inhibition of the startle response ( 31596458)	Blood protein levels ( 30072576 29875488) Chronic obstructive pulmonary disease ( 28166215) Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) ( 30940143) Inflammatory bowel disease ( 28067908)
Interacting Genes		5 interacting genes: BRCA1 COL4A3 KRT18 MARK1 POFUT1	13 interacting genes: AKT2 DEFB115 DEFB116 DLL1 DUSP15 ERGIC3 ID1 JAG1 NAP1L2 NOTCH1 PTPRA USH2A ZIC3
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?
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