SIGMAR1 and GNE

		SIGMAR1	GNE
Description		sigma non-opioid intracellular receptor 1	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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GO Annotations	Cellular Component	Nucleus Nuclear Envelope Nuclear Inner Membrane Nuclear Outer Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Lipid Droplet Cytosol Plasma Membrane Postsynaptic Density Membrane Growth Cone Cytoplasmic Vesicle Cell Projection Synapse Postsynaptic Membrane Anchoring Junction Postsynapse Postsynaptic Density Membrane Glutamatergic Synapse	Cytoplasm Cytosol
	Molecular Function	G Protein-coupled Opioid Receptor Activity Protein Binding Signaling Receptor Activity Identical Protein Binding	Nucleotide Binding Catalytic Activity Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Protein Binding ATP Binding UDP-N-acetylglucosamine 2-epimerase Activity N-acylmannosamine Kinase Activity Kinase Activity Transferase Activity Hydrolase Activity Metal Ion Binding
	Biological Process	Lipid Transport Nervous System Development G Protein-coupled Opioid Receptor Signaling Pathway Regulation Of Neuron Apoptotic Process Protein Homotrimerization Regulation Of Postsynapse Assembly	N-acetylglucosamine Biosynthetic Process UDP-N-acetylglucosamine Metabolic Process N-acetylneuraminate Metabolic Process CMP-N-acetylneuraminate Biosynthetic Process N-acetylneuraminate Biosynthetic Process Carbohydrate Phosphorylation Glycosylation
Pathways		Potential therapeutics for SARS	Sialic acid metabolism Defective GNE causes sialuria, NK and IBM2
Drugs		Amitriptyline Remoxipride Haloperidol Dextromethorphan Nortriptyline Fenfluramine Pentazocine Naltrexone Cocaine Hydrocodone Sertraline Dimethyltryptamine Prasterone Phencyclidine Pimavanserin Noscapine Captodiame Pentoxyverine
Diseases			Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM) Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
GWAS			Bipolar disorder (inflammation and infection response interaction) ( 25781172) Bisphosphonate-associated atypical femoral fracture ( 31006051)
Interacting Genes		5 interacting genes: ANK2 GHSR ITPR3 PDZD11 SRI	65 interacting genes: ADAMTSL4 C22orf39 CFP CRMP1 CYSRT1 ECM1 EGFL7 GRN GTPBP3 HOXA1 KIAA1549 KPRP KRT31 KRT34 KRT40 KRT83 KRT85 KRT86 KRTAP1-1 KRTAP1-3 KRTAP10-3 KRTAP10-5 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP11-1 KRTAP12-3 KRTAP13-2 KRTAP13-3 KRTAP17-1 KRTAP19-2 KRTAP19-7 KRTAP3-1 KRTAP3-3 KRTAP4-1 KRTAP4-11 KRTAP4-12 KRTAP4-4 KRTAP5-9 KRTAP6-1 KRTAP6-2 KRTAP6-3 KRTAP9-2 KRTAP9-3 KRTAP9-8 MDFI MGAT5B NBPF19 NID2 NOTCH2NLA PLA2G10 PRICKLE4 RIF1 SPRY1 SPRY2 SPRY3 SSC4D TRIM27 TRIM42 TRIP6 TSPAN4 VWC2 WDR83 WWOX ZBTB16
Entrez ID		10280	10020
HPRD ID		03580	04825
Ensembl ID		ENSG00000147955	ENSG00000159921
Uniprot IDs		A0A7P0T9D5 A0A7P0Z4C2 B4DR71 Q99720	A0A7I2SU25 Q9Y223
PDB IDs		5HK1 5HK2 6DJZ 6DK0 6DK1	2YHW 2YHY 2YI1 3EO3 4ZHT
Enriched GO Terms of Interacting Partners?			Intermediate Filament Keratin Filament Structural Constituent Of Skin Epidermis Cytosol Hair Cycle Keratinization Intermediate Filament Organization Structural Molecule Activity Epidermis Development Intermediate Filament Cytoskeleton Organization Intermediate Filament-based Process Negative Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway Negative Regulation Of Neurotrophin TRK Receptor Signaling Pathway Negative Regulation Of Lens Fiber Cell Differentiation Negative Regulation Of Ras Protein Signal Transduction Protein Binding Identical Protein Binding Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway Bud Elongation Involved In Lung Branching Interstitial Matrix Regulation Of Lens Fiber Cell Differentiation Regulation Of Ras Protein Signal Transduction Regulation Of Neurotrophin TRK Receptor Signaling Pathway
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