GNE and KIAA1549

Number of citations of the paper that reports this interaction (PubMedID 17118363)
0

Data Source:
HPRD (two hybrid)

		GNE	KIAA1549
Description		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	KIAA1549
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol	Plasma Membrane Cilium Membrane Photoreceptor Connecting Cilium Cell Projection
	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	Signaling by BRAF and RAF1 fusions
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)	Heel bone mineral density ( 30598549)
Interacting Genes		66 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 SIGMAR1 SPRY1 SPRY2 SPRY3 SSC4D TRIM27 TRIM42 TRIP6 TSPAN4 VWC2 WDR83 WWOX ZBTB16	10 interacting genes: CADPS CDC73 DST GNE ITSN2 LGALS4 MBD5 MYO5B SOD2 ZBTB16
Entrez ID		10020	57670
HPRD ID		04825	13873
Ensembl ID		ENSG00000159921	ENSG00000122778
Uniprot IDs		A0A7I2SU25 Q9Y223	Q9HCM3
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	H Zone Antibacterial Peptide Biosynthetic Process Multicellular Organismal-level Chemical Homeostasis Response To Magnetism Positive Regulation Of Hydrogen Peroxide Biosynthetic Process Response To Isolation Stress Positive Regulation Of Vascular Associated Smooth Muscle Cell Differentiation Involved In Phenotypic Switching Negative Regulation Of Membrane Hyperpolarization Regulation Of Fibroblast Proliferation Superoxide Dismutase Activity Acetylcholine-mediated Vasodilation Involved In Regulation Of Systemic Arterial Blood Pressure Negative Regulation Of Fibroblast Proliferation Erythrophore Differentiation Response To Silicon Dioxide Germ-line Stem Cell Division Positive Regulation Of NK T Cell Differentiation Type 2 Angiotensin Receptor Binding Male Germ-line Stem Cell Asymmetric Division Negative Regulation Of Myeloid Cell Differentiation Neuronal Dense Core Vesicle Membrane Vesicle-mediated Transport In Synapse CMP-N-acetylneuraminate Metabolic Process N-acylmannosamine Kinase Activity N-acetylneuraminate Biosynthetic Process N-acetylglucosamine Biosynthetic Process UDP-N-acetylglucosamine 2-epimerase Activity CMP-N-acetylneuraminate Biosynthetic Process Clathrin-dependent Synaptic Vesicle Endocytosis Positive Regulation Of Growth Hormone Receptor Signaling Pathway Regulation Of Membrane Hyperpolarization Regulation Of Fat Cell Differentiation Detection Of Oxygen Response To L-ascorbic Acid Positive Regulation Of MRNA 3'-end Processing Hemidesmosome Assembly Galactoside Binding Response To Superoxide Regulation Of NK T Cell Differentiation Endodermal Cell Fate Commitment
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