NGLY1 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	GJB2	gap junction protein beta 2	Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane		Deafness, autosomal recessive Keratitis-ichthyosis-deafness syndrome Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis Deafness, autosomal dominant Palmoplantar keratoderma with deafness
Novel	GRM7	glutamate metabotropic receptor 7	G alpha (i) signalling events Class C/3 (Metabotropic glutamate/pheromone receptors)	Glutamic acid
Novel	LIMD1	LIM domain containing 1	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Novel	MAP3K2	mitogen-activated protein kinase kinase kinase 2		Bosutinib Fostamatinib
Novel	OPA3	outer mitochondrial membrane lipid metabolism regulator OPA3			Autosomal dominant optic atrophy (DOA); Kjer's optic neuropathy 3-Methylglutaconic aciduria (MGCA)
Novel	PROC	protein C, inactivator of coagulation factors Va and VIIIa	Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation Gamma-carboxylation of protein precursors Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus Removal of aminoterminal propeptides from gamma-carboxylated proteins Cell surface interactions at the vascular wall Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation	Menadione Sodium tetradecyl sulfate Cupric Chloride Kappadione Protein S human	Inherited thrombophilia
Novel	SH3BP1	SH3 domain binding protein 1	RAC1 GTPase cycle
	APP	amyloid beta precursor protein	Platelet degranulation ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) G alpha (q) signalling events G alpha (i) signalling events Lysosome Vesicle Biogenesis Formyl peptide receptors bind formyl peptides and many other ligands TAK1-dependent IKK and NF-kappa-B activation The NLRP3 inflammasome Advanced glycosylation endproduct receptor signaling Advanced glycosylation endproduct receptor signaling Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Post-translational protein phosphorylation TRAF6 mediated NF-kB activation Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Purinergic signaling in leishmaniasis infection Amyloid fiber formation	Deferoxamine Aluminium Zinc L-methionine (R)-S-oxide Resveratrol Tromethamine Phenserine Tetrathiomolybdate CAD106 Mito-4509 Edonerpic Dimercaprol Copper Florbetaben (18F) Florbetapir (18F) Flutemetamol (18F) Gantenerumab Aducanumab Zinc acetate Aluminium phosphate Aluminum acetate Zinc chloride Zinc sulfate, unspecified form Lecanemab	Alzheimer's disease (AD)
	BICRAL	BICRA like chromatin remodeling complex associated protein	Formation of the non-canonical BAF (ncBAF) complex
	FAF1	Fas associated factor 1
	GUCD1	guanylyl cyclase domain containing 1
	NPAS2	neuronal PAS domain protein 2	BMAL1:CLOCK,NPAS2 activates circadian expression PPARA activates gene expression Heme signaling Expression of BMAL (ARNTL), CLOCK, and NPAS2 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
	NSFL1C	NSFL1 cofactor	RHOH GTPase cycle
	PAX5	paired box 5	RUNX1 regulates transcription of genes involved in BCR signaling		Lymphoplasmacytic lymphoma
	PAX6	paired box 6	Regulation of gene expression in beta cells Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Activation of anterior HOX genes in hindbrain development during early embryogenesis Formation of the anterior neural plate		Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON) Aniridia Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
	RAD23A	RAD23 nucleotide excision repair protein A	Josephin domain DUBs DNA Damage Recognition in GG-NER Formation of Incision Complex in GG-NER
	RAD23B	RAD23 nucleotide excision repair protein B	N-glycan trimming in the ER and Calnexin/Calreticulin cycle Josephin domain DUBs DNA Damage Recognition in GG-NER Formation of Incision Complex in GG-NER
	SRPK2	SRSF protein kinase 2	Maturation of nucleoprotein	Adenine Purvalanol Phosphoaminophosphonic Acid-Adenylate Ester
	TCF12	transcription factor 12	Myogenesis Myogenesis RUNX1 regulates transcription of genes involved in differentiation of HSCs NGF-stimulated transcription NGF-stimulated transcription Negative Regulation of CDH1 Gene Transcription TGFBR3 expression
	TRAFD1	TRAF-type zinc finger domain containing 1

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