NGLY1 and GJB2

Data Source:
HPRD (in vivo)

		NGLY1	GJB2
Description		N-glycanase 1	gap junction protein beta 2
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GO Annotations	Cellular Component	Nucleus Cytoplasm Cytosol	Endoplasmic Reticulum-Golgi Intermediate Compartment Cytosol Plasma Membrane Integral Component Of Plasma Membrane Gap Junction Connexin Complex Lateral Plasma Membrane Cell Body Perinuclear Region Of Cytoplasm Astrocyte Projection
	Molecular Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine Amidase Activity Protein Binding Metal Ion Binding	Gap Junction Channel Activity Calcium Ion Binding Protein Binding Identical Protein Binding Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
	Biological Process	Protein Folding Protein Quality Control For Misfolded Or Incompletely Synthesized Proteins Glycoprotein Catabolic Process Protein Deglycosylation	Response To Ischemia Cell-cell Signaling Aging Sensory Perception Of Sound Cell Communication By Electrical Coupling Gap Junction Assembly Response To Estradiol Response To Lipopolysaccharide Response To Retinoic Acid Response To Progesterone Cellular Response To Oxidative Stress Response To Human Chorionic Gonadotropin Response To Antibiotic Decidualization Inner Ear Development Transmembrane Transport Cellular Response To Glucagon Stimulus Cellular Response To Dexamethasone Stimulus Epididymis Development Gap Junction-mediated Intercellular Transport
Pathways		N-glycan trimming in the ER and Calnexin/Calreticulin cycle	Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane
Drugs
Diseases			Keratitis-ichthyosis-deafness syndrome Palmoplantar keratoderma with deafness Deafness, autosomal dominant Deafness, autosomal recessive Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis
GWAS			Facial emotion recognition (happy faces) ( 28608620)
Interacting Genes		18 interacting genes: APP BICRAL FAF1 GUCD1 NPAS2 NSFL1C PAX5 PAX6 RAD23A RAD23B SRPK2 TCF12 TRAFD1 TRIM54 UBQLN1 UBXN2B VCP VMAC	43 interacting genes: AMIGO1 APLNR AQP6 ARL13B CAV1 CD14 CNST CREB3 EBP ERGIC3 FAM209A FFAR2 GJA5 GJA8 GJB1 GJB6 GPR152 GPR42 HSD17B13 KCNK5 KLRC1 LHFPL5 LMNA LRRC4C MFSD6 MS4A6E PEX12 PLEKHB2 SAR1A SHISAL1 SLC18A1 SLC30A2 SSMEM1 TBXA2R TEX29 TIMMDC1 TLCD4 TM2D2 TMEM106A TMEM237 TMEM31 TMX2 TRHR
Entrez ID		55768	2706
HPRD ID		10118	00413
Ensembl ID		ENSG00000151092	ENSG00000165474
Uniprot IDs		Q96IV0	H9U1J4 P29033
PDB IDs		2CCQ 2CM0	1XIR 2ZW3 3IZ1 3IZ2 5ER7 5ERA 5KJ3 5KJG 6UVR 6UVS 6UVT
Enriched GO Terms of Interacting Partners?
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