CPS1 and ATIC

		CPS1	ATIC
Description		carbamoyl-phosphate synthase 1	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
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GO Annotations	Cellular Component	Nucleus Nucleolus Cytoplasm Mitochondrion Mitochondrial Inner Membrane Mitochondrial Matrix Cytosol Plasma Membrane Membrane Protein-containing Complex Mitochondrial Nucleoid	Cytoplasm Cytosol Plasma Membrane Membrane Extracellular Exosome
	Molecular Function	Nucleotide Binding Catalytic Activity Carbamoyl-phosphate Synthase (ammonia) Activity Carbamoyl-phosphate Synthase (glutamine-hydrolyzing) Activity Endopeptidase Activity Calcium Ion Binding Protein Binding ATP Binding Phospholipid Binding Glutamate Binding Ligase Activity Potassium Ion Binding Small Molecule Binding Protein-containing Complex Binding Metal Ion Binding Modified Amino Acid Binding	Catalytic Activity IMP Cyclohydrolase Activity Phosphoribosylaminoimidazolecarboxamide Formyltransferase Activity Transferase Activity Hydrolase Activity Protein Homodimerization Activity Cadherin Binding
	Biological Process	Urea Cycle Liver Development 'de Novo' Pyrimidine Nucleobase Biosynthetic Process Glutamine Metabolic Process Midgut Development Response To Xenobiotic Stimulus Response To Toxic Substance Response To Zinc Ion Response To Amine Citrulline Biosynthetic Process Triglyceride Catabolic Process Response To Food Response To Lipopolysaccharide Response To Glucagon Response To Oleic Acid Vasodilation Response To Starvation Response To Amino Acid Cellular Response To Fibroblast Growth Factor Stimulus Nitric Oxide Metabolic Process Response To Steroid Hormone Homocysteine Metabolic Process Response To Glucocorticoid Response To CAMP Monoatomic Anion Homeostasis Response To Growth Hormone Hepatocyte Differentiation Carbamoyl Phosphate Biosynthetic Process Cellular Response To Ammonium Ion Cellular Response To CAMP Cellular Response To Glucagon Stimulus Cellular Response To Oleic Acid Response To Dexamethasone Response To Alcohol	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
Pathways		Urea cycle	Purine ribonucleoside monophosphate biosynthesis Signaling by ALK fusions and activated point mutants
Drugs		Carglumic acid	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		Carbamoyl phosphate synthetase I deficiency	AICA-ribosiduria; ATIC deficiency
GWAS		Alanine aminotransferase levels ( 33547301 33339817) Alanine transaminase levels ( 29403010) Alzheimer's disease in APOE e4+ carriers ( 25778476) Apolipoprotein A1 levels ( 32203549) Appendicular lean mass ( 33097823) Betaine levels in individuals undergoing cardiac evaluation ( 26822151) Blood urea nitrogen levels ( 31152163) Body mass index ( 25673413 26426971) Body mass index in asthmatics ( 23517042) Chronic kidney disease ( 20383146 31152163 26831199) Creatinine levels ( 31015462 29403010) Eosinophil count ( 32888494) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 32888494 27863252) Estimated glomerular filtration rate ( 31152163 31451708 31015462 30604766) Estimated glomerular filtration rate in diabetes ( 31451708) Estimated glomerular filtration rate in non-diabetics ( 31451708) Fibrinogen ( 20031577 23969696) Fibrinogen levels ( 28107422 26561523) Glomerular filtration rate ( 27588450 29403010) Glomerular filtration rate (creatinine) ( 26831199 28452372) Glomerular filtration rate in non diabetics (creatinine) ( 26831199) Glycine levels ( 31070104 30837465) HDL cholesterol ( 24097068) HDL cholesterol levels ( 32203549 30698716) HDL cholesterol levels in current drinkers ( 30698716) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Homocysteine levels ( 20154341 23824729) Lipoprotein (a) levels ( 33730874) Liver enzyme levels (alkaline phosphatase) ( 33972514) Lymphocyte count ( 32888494) Macular telangiectasia type 2 ( 33654266 28250457) Mean corpuscular hemoglobin ( 27863252 29403010 32888494) Mean corpuscular volume ( 27863252 29403010 32888494) Mean platelet volume ( 27863252 32888494) Metabolic traits ( 21886157) Metabolite levels ( 31628463 23378610) Neutrophil count ( 32888494) Non-small cell lung cancer ( 23144319) Plasma free amino acid levels ( 30659259) Plasma free amino acid levels (adjusted for one other PFAA) ( 30659259) Plasma free amino acid levels (adjusted for twenty other PFAAs) ( 30659259) Plasma homocysteine levels (post-methionine load test) ( 24651765) Platelet count ( 32888494 27863252) Platelet distribution width ( 32888494) Plateletcrit ( 32888494 27863252) Positive urgency ( 30718321) Red blood cell count ( 32888494) Red cell distribution width ( 32888494) Serum metabolite concentrations in chronic kidney disease ( 29545352) Serum metabolite levels ( 24625756 25569235 33031748 31636271) Serum metabolite levels (CMS) ( 31636271) Serum uric acid levels ( 30993211) Systolic blood pressure ( 30224653) Urate levels ( 31578528) Urate levels in obese individuals ( 25811787) Urinary albumin excretion ( 30220432) Urinary albumin excretion (no hypertensive medication) ( 30220432) Urinary albumin-to-creatinine ratio ( 31630189 31511532) Urinary metabolite levels in chronic kidney disease ( 31959995) Urinary metabolite modules (eigenmetabolites) in chronic kidney disease ( 31959995) Urinary metabolites ( 26352407) Urinary potassium to creatinine ratio ( 30910378) Urinary sodium to creatinine ratio ( 30910378) White blood cell count ( 32888494)	Airway imaging phenotypes ( 26030696) Metabolite levels ( 23823483)
Interacting Genes		3 interacting genes: ARAF HSD17B10 RAF1	6 interacting genes: CEBPA LINC01554 MTNR1A OGT RBM11 SERPINB5
Entrez ID		1373	471
HPRD ID		01995	03434
Ensembl ID		ENSG00000021826	ENSG00000138363
Uniprot IDs		P31327 Q6PEK7	P31939 V9HWH7
PDB IDs		2YVQ 4UTR 4UTV 4UTX 4UTZ 4UU7 4UU8 4UUA 4UUB 5DOT 5DOU 5OJO 6UEL 6W2J	1P4R 1PKX 1PL0 5UY8 5UZ0
Enriched GO Terms of Interacting Partners?		MAP Kinase Kinase Kinase Activity Positive Regulation Of Peptidyl-serine Phosphorylation Regulation Of Peptidyl-serine Phosphorylation Cerebellum Development Phosphoribosylaminoimidazolecarboxamide Formyltransferase Activity Cerebral Cortex Development IMP Cyclohydrolase Activity Isoursodeoxycholate 7-beta-dehydrogenase (NAD+) Activity Chenodeoxycholate 7-alpha-dehydrogenase (NAD+) Activity 3-hydroxy-2-methylbutyryl-CoA Dehydrogenase Activity Cholate 7-alpha-dehydrogenase (NAD+) Activity Ursodeoxycholate 7-beta-dehydrogenase (NAD+) Activity Positive Regulation Of Transcription From RNA Polymerase II Promoter By Galactose Transferase Activity 17-beta-hydroxysteroid Dehydrogenase (NAD+) Activity Brexanolone Metabolic Process Death-inducing Signaling Complex Assembly Labyrinthine Layer Morphogenesis Dihydrofolate Metabolic Process Mitochondrial Ribonuclease P Complex Mitochondrial TRNA 5'-end Processing Mitochondrial TRNA 3'-end Processing Mitochondrial TRNA Methylation Cellular Response To Thyroglobulin Triiodothyronine Positive Regulation Of Female Receptivity Mitochondrial RNA 5'-end Processing MAPK Cascade Positive Regulation Of Phosphorylation Positive Regulation Of Protein Phosphorylation Brainstem Development 'de Novo' IMP Biosynthetic Process Tetrahydrofolate Biosynthetic Process 'de Novo' AMP Biosynthetic Process 'de Novo' XMP Biosynthetic Process TRNA Methyltransferase Complex Mitochondrial RNA 3'-end Processing Testosterone Dehydrogenase (NAD+) Activity Androstan-3-alpha,17-beta-diol Dehydrogenase (NAD+) Activity TRNA 3'-end Processing Isoleucine Metabolic Process L-isoleucine Catabolic Process (3S)-3-hydroxyacyl-CoA Dehydrogenase (NAD+) Activity Adenylate Cyclase Activator Activity Response To Thyroglobulin Triiodothyronine Regulation Of Female Receptivity Regulation Of Thyroid Hormone Receptor Signaling Pathway Male Mating Behavior Female Mating Behavior Carbon Catabolite Regulation Of Transcription Folic Acid-containing Compound Biosynthetic Process	Urea Metabolic Process Nitrogen Cycle Metabolic Process Urea Cycle
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