GNE and KRTAP19-2

Number of citations of the paper that reports this interaction (PubMedID 32296183)
50

Data Source:
BioGRID (two hybrid)

		GNE	KRTAP19-2
Description		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	keratin associated protein 19-2
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol	Cytosol Intermediate Filament
	Molecular Function	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	Protein Binding
	Biological Process	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		Sialic acid metabolism Defective GNE causes sialuria, NK and IBM2	Keratinization
Drugs
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		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	46 interacting genes: ADAMTSL4 ANAPC11 ATN1 C11orf16 CHRD COL8A1 CREB5 CYSRT1 EFEMP1 ETHE1 FBLN1 FOXD2 FOXH1 GNE HOXC8 HSD3B7 KPRP KRTAP12-2 KRTAP12-4 KRTAP3-3 KRTAP4-12 KRTAP6-3 KRTAP9-3 LCE2D MEIS2 MGAT5B MKRN3 NTAQ1 OLIG3 OTX1 PCSK5 PIGS POU4F2 RHBG SLC12A4 SLC15A3 SMARCC1 SNRPC SPAG8 TEKT4 TENT5D TFAP2D VENTX VGLL3 VWC2L ZIC1
Entrez ID		10020	337969
HPRD ID		04825	11206
Ensembl ID		ENSG00000159921	ENSG00000186965
Uniprot IDs		A0A7I2SU25 Q9Y223	Q3LHN2
PDB IDs		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	Intermediate Filament DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Chromatin Pattern Specification Process Sequence-specific Double-stranded DNA Binding Protein Binding Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription DNA-binding Transcription Factor Activity Positive Regulation Of Transcription By RNA Polymerase II
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