GNE and ECM1

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

Data Source:
BioGRID (two hybrid)

		GNE	ECM1
Description		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	extracellular matrix protein 1
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol	Extracellular Region Extracellular Space Extracellular Matrix Platelet Dense Granule Lumen Extracellular Exosome
	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	Protease Binding Interleukin-2 Receptor Binding Extracellular Matrix Structural Constituent 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	Ossification Angiogenesis Positive Regulation Of Endothelial Cell Proliferation Negative Regulation Of Cytokine-mediated Signaling Pathway Chondrocyte Development Regulation Of Type 2 Immune Response Endochondral Bone Growth Regulation Of Transcription By RNA Polymerase II Inflammatory Response Signal Transduction Negative Regulation Of Peptidase Activity Regulation Of Bone Mineralization Negative Regulation Of Bone Mineralization Biomineral Tissue Development Positive Regulation Of Canonical NF-kappaB Signal Transduction Positive Regulation Of Angiogenesis Regulation Of Macromolecule Metabolic Process Regulation Of Primary Metabolic Process Regulation Of T Cell Migration
Pathways		Sialic acid metabolism Defective GNE causes sialuria, NK and IBM2	Platelet degranulation
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)	Lipoid proteinosis; Urbach-Wiethe disease
GWAS		Bipolar disorder (inflammation and infection response interaction) ( 25781172) Bisphosphonate-associated atypical femoral fracture ( 31006051)	Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (min-P) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Cortical thickness (min-P) ( 32665545) Cortical thickness (MOSTest) ( 32665545) Migraine ( 27322543) Refractive error ( 32231278) Schizophrenia ( 28991256 30285260) Spontaneous coronary artery dissection ( 32374345 32887874) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545)
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	39 interacting genes: A1CF ACTN3 AIRIM ATN1 BCAS2 BNIP3L CPTP CYSRT1 DDIAS DTX2 ENKD1 FASLG FBLN1 FKBP6 FRS3 FXR1 GCM2 GNE GPANK1 GRN HOXC8 HSPG2 IRAK3 ITGB4 KLHL38 KRTAP5-3 KRTAP9-3 LCE2A LIN7A LMO4 MKRN3 PRKAR2B RERE SAMD11 SGTB SNRPC SRPK1 UBQLN1 UBQLN2
Entrez ID		10020	1893
HPRD ID		04825	03727
Ensembl ID		ENSG00000159921	ENSG00000143369
Uniprot IDs		A0A7I2SU25 Q9Y223	A0A140VJI7 Q16610
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	Embryo Implantation
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