SMPDB_ID

SMP0000168

PW_ID

PW000082

图片

主题

Disease

描述

AICA-ribosiduria is a metabolic disease caused by a defect in final steps of purine de novo biosynthesis. This defect is caused by a mutation in the ATIC which codes for bifunctional purine biosynthesis protein PURH. A deficiency in this enzyme results in accumulation of 5-aminoimidazole-4-carboxamide in urine. Symptoms include mental retardation, epilepsy, dysmorphic features, and congenital blindness.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000168	PW_C001783	Hydrogen peroxide
SMP0000168	PW_C000102	Hypoxanthine
SMP0000168	PW_C008133	Fe3+
SMP0000168	PW_C040707	Disulfide
SMP0000168	PW_C001801	5-Aminoimidazole-4-carboxamide
SMP0000168	PW_C000121	Inosine triphosphate
SMP0000168	PW_C001846	IDP
SMP0000168	PW_C001799	Heme
SMP0000168	PW_C007218	Guanosine 2',3'-cyclic phosphate
SMP0000168	PW_C001177	Deoxyadenosine triphosphate
SMP0000168	PW_C000724	Deoxyadenosine monophosphate
SMP0000168	PW_C001161	dADP
SMP0000168	PW_C000041	cAMP
SMP0000168	PW_C000068	Deoxyadenosine
SMP0000168	PW_C000024	Adenine
SMP0000168	PW_C000034	Adenosine
SMP0000168	PW_C000413	Adenylsuccinic acid
SMP0000168	PW_C000050	Deoxyinosine
SMP0000168	PW_C000195	Uric acid
SMP0000168	PW_C000964	FAD
SMP0000168	PW_C000127	Inosine
SMP0000168	PW_C000203	Xanthosine
SMP0000168	PW_C000146	NADPH
SMP0000168	PW_C000143	NADP
SMP0000168	PW_C000457	Potassium
SMP0000168	PW_C001144	NADH
SMP0000168	PW_C000721	NAD
SMP0000168	PW_C001196	Xanthylic acid
SMP0000168	PW_C000114	Inosinic acid
SMP0000168	PW_C001111	Phosphoribosyl formamidocarboxamide
SMP0000168	PW_C001168	AICAR
SMP0000168	PW_C000088	Fumaric acid
SMP0000168	PW_C000637	SAICAR
SMP0000168	PW_C000123	L-Aspartic acid
SMP0000168	PW_C001316	Carbon dioxide
SMP0000168	PW_C002699	5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate
SMP0000168	PW_C000955	5-Aminoimidazole ribonucleotide
SMP0000168	PW_C000791	Phosphoribosylformylglycineamidine
SMP0000168	PW_C001007	5'-Phosphoribosyl-N-formylglycinamide
SMP0000168	PW_C001221	Tetrahydrofolic acid
SMP0000168	PW_C000774	10-Formyltetrahydrofolate
SMP0000168	PW_C001355	Glycineamideribotide
SMP0000168	PW_C000078	Glycine
SMP0000168	PW_C000500	L-Glutamine
SMP0000168	PW_C000095	L-Glutamic acid
SMP0000168	PW_C000882	5-Phosphoribosylamine
SMP0000168	PW_C001191	D-Ribose 5-phosphate
SMP0000168	PW_C000032	Adenosine monophosphate
SMP0000168	PW_C000914	Adenosine diphosphate ribose
SMP0000168	PW_C001005	Zinc (II) ion
SMP0000168	PW_C000035	Ammonia
SMP0000168	PW_C000198	Xanthine
SMP0000168	PW_C001042	Deoxyribose 1-phosphate
SMP0000168	PW_C001146	Ribose 1-phosphate
SMP0000168	PW_C001441	Phosphoric acid
SMP0000168	PW_C000087	Guanosine
SMP0000168	PW_C000190	Phosphoribosyl pyrophosphate
SMP0000168	PW_C000086	Guanine
SMP0000168	PW_C000170	Pyrophosphate
SMP0000168	PW_C000058	Deoxyguanosine
SMP0000168	PW_C000822	2'-Deoxyguanosine 5'-monophosphate
SMP0000168	PW_C001112	dGTP
SMP0000168	PW_C000767	dGDP
SMP0000168	PW_C000353	Calcium
SMP0000168	PW_C001104	Phosphate
SMP0000168	PW_C000423	Magnesium
SMP0000168	PW_C001034	Adenosine diphosphate
SMP0000168	PW_C000414	Adenosine triphosphate
SMP0000168	PW_C000936	Guanosine diphosphate
SMP0000168	PW_C001080	Guanosine monophosphate
SMP0000168	PW_C000986	Guanosine triphosphate
SMP0000168	PW_C001420	Water
SMP0000168	PW_C001033	Diguanosine tetraphosphate
SMP0000168	PW_C001065	Oxygen

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000168	P31350	Ribonucleoside-diphosphate reductase subunit M2
SMP0000168	P23921	Ribonucleoside-diphosphate reductase large subunit
SMP0000168	P10599	Thioredoxin
SMP0000168	Q9Y233	cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
SMP0000168	Q02153	Guanylate cyclase soluble subunit beta-1
SMP0000168	P33402	Guanylate cyclase soluble subunit alpha-2
SMP0000168	Q96PN6	Adenylate cyclase type 10
SMP0000168	Q08499	cAMP-specific 3',5'-cyclic phosphodiesterase 4D
SMP0000168	Q8NBU5	ATPase family AAA domain-containing protein 1
SMP0000168	P00568	Adenylate kinase isoenzyme 1
SMP0000168	P00813	Adenosine deaminase
SMP0000168	P23109	AMP deaminase 1
SMP0000168	P30520	Adenylosuccinate synthetase isozyme 2
SMP0000168	P47989	Xanthine dehydrogenase/oxidase
SMP0000168	P36959	GMP reductase 1
SMP0000168	P20839	Inosine-5'-monophosphate dehydrogenase 1
SMP0000168	P49915	GMP synthase [glutamine-hydrolyzing]
SMP0000168	Q9BY32	Inosine triphosphate pyrophosphatase
SMP0000168	P31939	Bifunctional purine biosynthesis protein PURH
SMP0000168	P30566	Adenylosuccinate lyase
SMP0000168	P22234	Multifunctional protein ADE2
SMP0000168	O15067	Phosphoribosylformylglycinamidine synthase
SMP0000168	P22102	Trifunctional purine biosynthetic protein adenosine-3
SMP0000168	Q06203	Amidophosphoribosyltransferase
SMP0000168	P21108	Ribose-phosphate pyrophosphokinase 3
SMP0000168	Q9UKK9	ADP-sugar pyrophosphatase
SMP0000168	Q9Y2T3	Guanine deaminase
SMP0000168	P00492	Hypoxanthine-guanine phosphoribosyltransferase
SMP0000168	P00491	Purine nucleoside phosphorylase
SMP0000168	P07741	Adenine phosphoribosyltransferase
SMP0000168	Q16854	Deoxyguanosine kinase, mitochondrial
SMP0000168	P49902	Cytosolic purine 5'-nucleotidase
SMP0000168	Q16774	Guanylate kinase
SMP0000168	Q5MY95	Ectonucleoside triphosphate diphosphohydrolase 8
SMP0000168	O75356	Ectonucleoside triphosphate diphosphohydrolase 5
SMP0000168	O75414	Nucleoside diphosphate kinase 6
SMP0000168	P50583	Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]