POFUT1 and USH2A

		POFUT1	USH2A
Description		protein O-fucosyltransferase 1	usherin
Image			No pdb structure
GO Annotations	Cellular Component	Endoplasmic Reticulum Membrane	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
	Molecular Function	Fucosyltransferase Activity Peptide-O-fucosyltransferase Activity	Protein Binding Collagen Binding Myosin Binding Identical Protein Binding
	Biological Process	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	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
Pathways		Pre-NOTCH Processing in the Endoplasmic Reticulum
Drugs
Diseases			Usher syndrome (US) Retinitis pigmentosa (RP)
GWAS		Blood protein levels ( 30072576 29875488) Chronic obstructive pulmonary disease ( 28166215) Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) ( 30940143) Inflammatory bowel disease ( 28067908)	Birth weight ( 31043758) Chronic mucus hypersecretion ( 25234806) Prepulse inhibition of the startle response ( 31596458)
Interacting Genes		13 interacting genes: AKT2 DEFB115 DEFB116 DLL1 DUSP15 ERGIC3 ID1 JAG1 NAP1L2 NOTCH1 PTPRA USH2A ZIC3	5 interacting genes: BRCA1 COL4A3 KRT18 MARK1 POFUT1
Entrez ID		23509	7399
HPRD ID		06319	09759
Ensembl ID		ENSG00000101346	ENSG00000042781
Uniprot IDs		Q9H488	O75445
PDB IDs		5UX6 5UXH
Enriched GO Terms of Interacting Partners?
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