ATIC and DES

Data Source:
BioGRID (two hybrid)
HPRD (two hybrid)

		ATIC	DES
Description		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	desmin
Image			No pdb structure
GO Annotations	Cellular Component	Cytosol Plasma Membrane Membrane Extracellular Exosome	Nucleus Cytosol Intermediate Filament Fascia Adherens Intercalated Disc Z Disc Neuromuscular Junction Sarcolemma Intermediate Filament Cytoskeleton Extracellular Exosome Cardiac Myofibril
	Molecular Function	IMP Cyclohydrolase Activity Phosphoribosylaminoimidazolecarboxamide Formyltransferase 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 'de Novo' IMP Biosynthetic Process Nucleoside Metabolic Process Purine Ribonucleoside Monophosphate Biosynthetic Process Response To Inorganic Substance Cerebellum Development Cerebral Cortex Development Animal Organ Regeneration Dihydrofolate Metabolic Process Tetrahydrofolate Biosynthetic Process Cellular Response To Interleukin-7	Muscle Contraction Cytoskeleton Organization Regulation Of Heart Contraction Muscle Filament Sliding Intermediate Filament Organization
Pathways		Purine ribonucleoside monophosphate biosynthesis	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	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) Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Scapuloperoneal myopathy (SPM) Dilated cardiomyopathy (DCM)
GWAS		Airway imaging phenotypes ( 26030696) Metabolite levels ( 23823483)	Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Resting heart rate ( 27798624)
Interacting Genes		5 interacting genes: EGFR LINC01554 MTNR1A PRNP SERPINB5	60 interacting genes: AURKB BAG5 BRCA1 C1orf216 CAPN1 CLIP4 CRYAB CT55 CWF19L2 DDX6 DSP DUX1 DUX4 EHHADH ENO1 GFAP GOLGA6L9 HSPB1 ITSN1 KRT13 KRT15 KRT20 KRT33B KRT37 KRT75 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 VIM 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?
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