KRTAP3-3 and GNE

Number of citations: 50 (PubMedID 32296183)
Data Source: BioGRID (two hybrid)

		KRTAP3-3	GNE
Name		keratin associated protein 3-3	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Structure		No pdb structure
GO Annotations	Cellular Component	Cytosol Intermediate Filament Keratin Filament	Cytoplasm Cytosol
	Molecular Function	Structural Molecule Activity 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	None	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		Keratinization	Sialic acid metabolism Defective GNE causes sialuria, NK and IBM2
Diseases		None	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		No GWAS studies recorded	Bipolar disorder (inflammation and infection response interaction) ( 25781172 ) Bisphosphonate-associated atypical femoral fracture ( 31006051 )
Novel Interactors		None recorded	1 novel interactors: SIGMAR1
Interacting Genes		78 interacting genes: ALDH3B1 ANAPC11 ARID5A ATG9A BEX2 CELF5 CERCAM CIMAP1B CTSZ CYSRT1 DCANP1 DCDC2B DMRT3 DOCK2 ERMAP FADS6 FAM168A FARS2 FOXC2 FOXH1 FOXP3 GNE GPS2 GSTP1 GUCD1 HOXA1 HR HYPK KLHL38 KRT83 KRTAP10-1 KRTAP12-3 KRTAP12-4 KRTAP13-2 KRTAP15-1 KRTAP19-2 KRTAP19-7 KRTAP4-11 KRTAP4-2 KRTAP5-6 KRTAP6-2 KRTAP9-3 KRTAP9-8 LASP1 LCE1F LCE2B LCE3A LCE3C LCE3D LCE3E LCE4A LONRF1 LRRN4 MGAT5B MRPL23 MXD3 NR1D2 NTAQ1 NUFIP2 OLIG3 OTX1 P2RY6 PATZ1 PHLDA1 PITX1 PITX2 PLSCR3 PLSCR4 PRKAB2 PVR SHISA6 SMARCC1 SSC4D TNFRSF12A VENTX VGLL3 YPEL3 ZNF503	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		85293	10020
HPRD ID		13939	04825
Ensembl ID		ENSG00000212899	ENSG00000159921
Uniprot IDs		Q9BYR6	A0A7I2SU25 Q9Y223
PDB IDs		Not available	2YHW 2YHY 2YI1 3EO3 4ZHT
GO Terms Enriched among Interactors		Intermediate Filament Keratinization Keratin Filament Epidermis Development Protein Binding Tissue Development Hair Cycle Phospholipid Scramblase Activity Plasma Membrane Phospholipid Scrambling Sequence-specific DNA Binding Sequence-specific Double-stranded DNA Binding Chromatin	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