PDE6B and GLA

		PDE6B	GLA
Description		phosphodiesterase 6B	galactosidase alpha
Image		No pdb structure
GO Annotations	Cellular Component	Cell Plasma Membrane Photoreceptor Disc Membrane	Extracellular Region Cytoplasm Lysosome Golgi Apparatus Azurophil Granule Lumen Lysosomal Lumen Extracellular Exosome
	Molecular Function	Metal Ion Binding 3',5'-cyclic-GMP Phosphodiesterase Activity	Catalytic Activity Alpha-galactosidase Activity Signaling Receptor Binding Protein Binding Hydrolase Activity Galactoside Binding Protein Homodimerization Activity Raffinose Alpha-galactosidase Activity
	Biological Process	G Protein-coupled Receptor Signaling Pathway Wnt Signaling Pathway, Calcium Modulating Pathway Visual Perception Phototransduction, Visible Light Rhodopsin Mediated Signaling Pathway Regulation Of Rhodopsin Mediated Signaling Pathway Regulation Of Cytosolic Calcium Ion Concentration Retina Development In Camera-type Eye	Glycosphingolipid Metabolic Process Oligosaccharide Metabolic Process Glycoside Catabolic Process Neutrophil Degranulation Negative Regulation Of Nitric Oxide Biosynthetic Process Glycosylceramide Catabolic Process Glycosphingolipid Catabolic Process Negative Regulation Of Nitric-oxide Synthase Activity
Pathways		Activation of the phototransduction cascade Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade Ca2+ pathway Ca2+ pathway	Glycosphingolipid metabolism Neutrophil degranulation
Drugs		Caffeine Trapidil	Migalastat
Diseases		Congenital stationary night blindness (CSNB), including: CSNB type 1 (CSNB1); CSNB type 2 (CSNB2); CSNB autosomal dominant (CSNBAD); Oguchi disease/ CSNB Oguchi type (CSNBO) Retinitis pigmentosa (RP)	Fabry disease
GWAS
Interacting Genes		2 interacting genes: GLA THTPA	13 interacting genes: ANKRD30A CCR2 COL4A5 DUSP6 GPR17 GUCY2F HNRNPH2 MORF4L2 NAP1L3 NOSTRIN PDE6B PLP1 TERT
Entrez ID		5158	2717
HPRD ID		01571	02357
Ensembl ID		ENSG00000133256	ENSG00000102393
Uniprot IDs		B4DHV7 P35913	P06280 Q53Y83
PDB IDs			1R46 1R47 3GXN 3GXP 3GXT 3HG2 3HG3 3HG4 3HG5 3LX9 3LXA 3LXB 3LXC 3S5Y 3S5Z 3TV8 4NXS 6IBK 6IBM 6IBR 6IBT
Enriched GO Terms of Interacting Partners?
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