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ATIC

Summary: This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	MIM:601731	Ensembl:ENSG00000138363	HGNC:HGNC:794	PA25094	2q35

Gene Categories:

DRUGGABLE GENOME

GO terms in ATIC

Term Type	Evidence Type	GO Term ID	GO Des.
MF	TAS	GO:0003937	IMP cyclohydrolase activity
MF	TAS	GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity
MF	IPI	GO:0042803	protein homodimerization activity
MF	HDA	GO:0045296	cadherin binding
BP	IEA	GO:0003360	brainstem development
BP	TAS	GO:0006139	nucleobase-containing compound metabolic process
BP	IEA	GO:0006189	'de novo' IMP biosynthetic process
BP	IEA	GO:0009116	nucleoside metabolic process
BP	TAS	GO:0009168	purine ribonucleoside monophosphate biosynthetic process
BP	IEA	GO:0010035	response to inorganic substance
BP	IEA	GO:0021549	cerebellum development
BP	IEA	GO:0021987	cerebral cortex development
BP	IEA	GO:0031100	animal organ regeneration
BP	IEA	GO:0046452	dihydrofolate metabolic process
BP	IEA	GO:0046654	tetrahydrofolate biosynthetic process
CC	IDA	GO:0005829	cytosol
CC	TAS	GO:0005829	cytosol
CC	IDA	GO:0005886	plasma membrane
CC	HDA	GO:0016020	membrane
CC	HDA	GO:0070062	extracellular exosome

Gene expression in normal tissue: ATIC

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ATIC

Database	Pathway ID	Pathway Des.
reactome	R-HSA-1430728	Metabolism
reactome	R-HSA-15869	Metabolism of nucleotides
reactome	R-HSA-73817	Purine ribonucleoside monophosphate biosynthesis
reactome	R-HSA-8956320	Nucleobase biosynthesis
humancyc	PWY-6124	inosine-5,-phosphate biosynthesis
humancyc	PWY-841	purine nucleotides de novo biosynthesis
pharmgkb	PA165291575	Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
pharmgkb	PA2039	Methotrexate Pathway (Cancer Cell), Pharmacodynamics
kegg	hsa00230	Purine metabolism - Homo sapiens (human)
kegg	hsa00670	One carbon pool by folate - Homo sapiens (human)
smpdb	SMP00050	Purine Metabolism
smpdb	SMP00144	Adenosine Deaminase Deficiency
smpdb	SMP00167	Adenylosuccinate Lyase Deficiency
smpdb	SMP00168	AICA-Ribosiduria
smpdb	SMP00203	Molybdenum Cofactor Deficiency
smpdb	SMP00210	Purine Nucleoside Phosphorylase Deficiency
smpdb	SMP00220	Xanthine Dehydrogenase Deficiency (Xanthinuria)
smpdb	SMP00364	Lesch-Nyhan Syndrome (LNS)
smpdb	SMP00365	Gout or Kelley-Seegmiller Syndrome
smpdb	SMP00427	Azathioprine Action Pathway
smpdb	SMP00428	Mercaptopurine Action Pathway
smpdb	SMP00430	Thioguanine Action Pathway
smpdb	SMP00512	Xanthinuria type I
smpdb	SMP00513	Xanthinuria type II
smpdb	SMP00535	Adenine phosphoribosyltransferase deficiency (APRT)
smpdb	SMP00536	Mitochondrial DNA depletion syndrome
smpdb	SMP00537	Myoadenylate deaminase deficiency
wikipathways	WP241	One Carbon Metabolism
wikipathways	WP4224	Purine metabolism

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD263	AACOCF3	4
iGMDRD399	Selumetinib	3
iGMDRD188	Piperlongumine	2
iGMDRD562	Navitoclax	3
iGMDRD782	DC-45-A2	3
iGMDRD289	Parthenolide	7
iGMDRD121	GMX1778	2
iGMDRD474	Avrainvillamide	1
iGMDRD138	PX 12	3
iGMDRD103	SN-38	3
iGMDRD255	SB225002	2
iGMDRD123	Isoevodiamine	3
iGMDRD466	Chaetocin	2
iGMDRD945	ML214	4
iGMDRD446	LY 2183240	2
iGMDRD427	ABT737	3
iGMDRD701	NVP-AUY922	3
iGMDRD483	SCH-529074	2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ATIC

SITE

DATATYPES

CLASSFICATION

Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.