GNE and KRTAP12-3

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

Data Source:
BioGRID (two hybrid)

		GNE	KRTAP12-3
Description		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	keratin associated protein 12-3
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol	Cytosol Intermediate Filament Keratin 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 Identical 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	145 interacting genes: ADAMTSL3 ADAMTSL4 AGXT ALDH3B1 BCL6B BMP7 C11orf87 C22orf39 CARD10 CATSPER1 CBX2 CELF5 CHIC2 CHRD CHRNG CNNM3 COL8A1 CRCT1 CREB5 CYSRT1 DALRD3 DHRS1 DHX57 DNAL4 DOCK2 FASLG FBXW5 GLRX3 GNE GTF3C5 HOXA1 ITGB4 JOSD1 KPRP KRT20 KRTAP1-1 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP11-1 KRTAP12-1 KRTAP13-1 KRTAP13-2 KRTAP13-3 KRTAP19-7 KRTAP3-3 KRTAP4-2 KRTAP4-4 KRTAP5-6 KRTAP5-9 KRTAP6-1 KRTAP6-2 KRTAP9-2 KRTAP9-3 LCE1A LCE1B LCE1C LCE1D LCE1E LCE1F LCE2A LCE2B LCE2C LCE2D LCE3A LCE3C LCE3D LCE3E LCE4A LCE5A LIF LMNTD2 LNX1 LYVE1 MAPKBP1 MEOX2 MISP MOBP NBPF19 NKD1 NMU NOTCH2NLA NPDC1 NR1D2 NR4A3 NUFIP2 OTX1 OXER1 P2RX4 P2RY6 P3H3 P4HB PDE9A PDGFRB PGAP6 PHLDA1 POU4F2 PTGDS PTPMT1 R3HDM2 RSPO2 SELENOM SHFL SLC13A5 SLC15A2 SLC23A1 SMCP SPATA3 SPRY1 TCEA2 TCEANC TFAP2D TMIE TNP2 TNS2 TTPA UTP23 UXT VASN VGLL3 VSTM4 WDR25 WNT11 YY1 ZDHHC1 ZNF101 ZNF124 ZNF138 ZNF20 ZNF408 ZNF417 ZNF439 ZNF440 ZNF467 ZNF490 ZNF491 ZNF497 ZNF578 ZNF587 ZNF648 ZNF696 ZNF80 ZNF835 ZNF837 ZSCAN21
Entrez ID		10020	386683
HPRD ID		04825	11199
Ensembl ID		ENSG00000159921	ENSG00000205439
Uniprot IDs		A0A7I2SU25 Q9Y223	P60328
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	Keratinization Intermediate Filament Epidermis Development Keratin Filament Protein Binding Tissue Development DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA Binding Regulation Of Transcription By RNA Polymerase II Identical Protein Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding RNA Polymerase II Transcription Regulatory Region Sequence-specific DNA Binding
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