ATIC and DES

		ATIC	DES
Description		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	desmin
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Plasma Membrane Membrane Extracellular Exosome	Nucleus Nuclear Envelope Cytoplasm Cytosol Cytoskeleton Intermediate Filament Plasma Membrane Cell-cell Junction Fascia Adherens Intercalated Disc Membrane Z Disc Neuromuscular Junction Sarcolemma Contractile Muscle Fiber Intermediate Filament Cytoskeleton Cell Tip Extracellular Exosome Cardiac Myofibril Supramolecular Fiber
	Molecular Function	Catalytic Activity IMP Cyclohydrolase Activity Phosphoribosylaminoimidazolecarboxamide Formyltransferase Activity Transferase Activity Hydrolase Activity Protein Homodimerization Activity Cadherin Binding	Structural Constituent Of Cytoskeleton Protein Binding Cytoskeletal Protein Binding Identical Protein Binding
	Biological Process	Brainstem Development Nucleobase-containing Compound Metabolic Process Purine Nucleotide Biosynthetic Process GMP Biosynthetic Process 'de Novo' IMP Biosynthetic Process Cerebellum Development Cerebral Cortex Development Animal Organ Regeneration 'de Novo' AMP Biosynthetic Process Dihydrofolate Metabolic Process Tetrahydrofolate Biosynthetic Process 'de Novo' XMP Biosynthetic Process Cellular Response To Interleukin-7	Muscle Contraction Nuclear Envelope Organization Cytoskeleton Organization Regulation Of Heart Contraction Intermediate Filament Organization Skeletal Muscle Organ Development
Pathways		Purine ribonucleoside monophosphate biosynthesis Signaling by ALK fusions and activated point mutants	Striated Muscle Contraction
Drugs		Tetrahydrofolic acid Methotrexate Pemetrexed AICA ribonucleotide Guanosine-5'-Monophosphate 5-monophosphate-9-beta-D-ribofuranosyl xanthine Acid yellow 54 free acid N-[4-([(2-Amino-4-oxo-1,4-dihydropyrido[3,2-d]pyrimidin-6-yl)methyl]{(2E)-3-[4-carbamoyl-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazol-5-yl]-2-propenoyl}amino)benzoyl]-L-glutamic acid
Diseases		AICA-ribosiduria; ATIC deficiency	Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Dilated cardiomyopathy (DCM) 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) Scapuloperoneal myopathy (SPM)
GWAS		Airway imaging phenotypes ( 26030696) Metabolite levels ( 23823483)	Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Resting heart rate ( 27798624)
Interacting Genes		6 interacting genes: CEBPA LINC01554 MTNR1A OGT RBM11 SERPINB5	58 interacting genes: AURKB BAG5 BRCA1 C1orf216 CAPN1 CDC73 CLIP4 CRYAB CT55 CWF19L2 DDX6 DSP DUX1 DUX4 EHHADH ENO1 GOLGA6L9 HSPB1 ITSN1 KRT13 KRT15 KRT20 KRT33B KRT37 LBX1 LENG1 LMO4 LONRF3 M1AP MAPKAPK2 NEB NEFL NEK6 PIAS2 PIH1D2 PKD1 PLEKHA5 POLR2G PPL PPP1R18 PRPH RNF4 ROCK1 S100A1 S100B SHBG SNAPIN SPTAN1 SYNC SYNM TCEA2 TFIP11 TRIM55 TRIM63 TRIM7 UBE2I YES1 ZMYM5
Entrez ID		471	1674
HPRD ID		03434	00514
Ensembl ID		ENSG00000138363	ENSG00000175084
Uniprot IDs		P31939 V9HWH7	P17661 Q53SB5
PDB IDs		1P4R 1PKX 1PL0 5UY8 5UZ0
Enriched GO Terms of Interacting Partners?		Urea Metabolic Process Nitrogen Cycle Metabolic Process Urea Cycle	Intermediate Filament-based Process Intermediate Filament Cytoskeleton Organization Intermediate Filament Intermediate Filament Organization Structural Constituent Of Cytoskeleton Structural Molecule Activity Contractile Muscle Fiber Cytoskeleton Organization M Band Cytoskeleton Structural Constituent Of Skin Epidermis Protein Binding Z Disc Supramolecular Fiber Organization Keratin Filament Cytoplasm Intermediate Filament Cytoskeleton Cornified Envelope Tissue Morphogenesis Organelle Organization Morphogenesis Of An Epithelium Extracellular Exosome Anterograde Axonal Transport
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