GNE and KRT83

Data Source:
BioGRID (two hybrid)

		GNE	KRT83
Description		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	keratin 83
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol	Extracellular Space Cytosol Keratin Filament
	Molecular Function	Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Protein Binding ATP Binding UDP-N-acetylglucosamine 2-epimerase Activity N-acylmannosamine Kinase Activity Metal Ion Binding	Protein Binding
	Biological Process	N-acetylglucosamine Biosynthetic Process UDP-N-acetylglucosamine Metabolic Process N-acetylneuraminate Metabolic Process Cell Adhesion Carbohydrate Phosphorylation	Aging Epidermis Development Keratinization Hair Cycle Cornification
Pathways		Sialic acid metabolism Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2	Keratinization Formation of the cornified envelope
Drugs
Diseases		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) Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM) Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type	Monilethrix
GWAS		Bipolar disorder (inflammation and infection response interaction) ( 25781172) Bisphosphonate-associated atypical femoral fracture ( 31006051)
Interacting Genes		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	40 interacting genes: ADAM12 ANKS1A C11orf87 CEP57 CREB5 CYSRT1 GEM GNE GSTP1 HOXA1 KRT15 KRT16 KRT19 KRT25 KRT27 KRT31 KRT33B KRT34 KRT35 KRT37 KRT38 KRT39 KRT40 KRTAP10-3 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP11-1 KRTAP13-3 KRTAP3-3 KRTAP6-2 MEOX2 NBPF19 NOTCH2NLA NRF1 OIP5 PITX1 PLEKHN1 POU4F2 ZDHHC1
Entrez ID		10020	3889
HPRD ID		04825	09097
Ensembl ID		ENSG00000159921	ENSG00000170523
Uniprot IDs		Q9Y223	P78385
PDB IDs		2YHW 2YHY 2YI1 3EO3 4ZHT
Enriched GO Terms of Interacting Partners?
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