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ATIC - 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Gene

Also Known as PURH; AICAR; AICARFT; IMPCHASE; HEL-S-70p

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 471

About ATIC

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:215,312,059-215,368,592 (from NCBI)

This gene has 14 transcripts (splice variants), 226 orthologues and is associated with 67 phenotypes. Ubiquitous expression in lymph node (RPKM 19.1), placenta (RPKM 17.9) and 25 other tissues.

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]

ATIC Products (1)

mRNA	Protein	Name
NM_004044.7	NP_004035.2	bifunctional purine biosynthesis protein ATIC

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables IMP cyclohydrolase activity	IDA IDA: Inferred from direct assay	26588576	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	14756553	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in 'de novo' AMP biosynthetic process	IDA IDA: Inferred from direct assay	26588576	GOA
involved in 'de novo' IMP biosynthetic process	IDA IDA: Inferred from direct assay	26588576	GOA
involved in 'de novo' XMP biosynthetic process	IDA IDA: Inferred from direct assay	26588576	GOA
involved in GMP biosynthetic process	IDA IDA: Inferred from direct assay	26588576	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATIC Protein Structure

MGS

AICARFT_IMPCHas

0
100
200
300
400
500
592 a.a.

Protein Preferred Names	Protein Names
bifunctional purine biosynthesis protein ATIC	5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase

ATIC 抗体

製品番号	製品名	アプリケーション	反応性
HY-P81327	ATIC Antibody (YA1072)	WB	Human, Mouse, Rat
HY-P85553	ATIC Antibody (YA5245)	WB	Human, Mouse, Rat

関連疾患

Diseases	Alias
Aica-Ribosuria Due To Atic Deficiency	Aica-Ribosiduria Due To Atic Deficiency Aicar Transformylase/Imp Cyclohydrolase Deficiency Atic Deficiency Aica-Ribosiduria 5-Amino-4-Imidazole Carboxamide Ribosiduria AICAR Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Glomerulopathy With Fibronectin Deposits 2	Fibronectin Glomerulopathy GFND2 Glomerulopathy With Fibronectin Deposits Familial Glomerular Nephritis With Fibronectin Deposits Familial Lobular Glomerulopathy Gfnd Glomerulopathy With Giant Fibrillar Deposits Glomerular Nephritis, Familial, With Fibronectin Deposits Glomerular Nephritis Familial With Fibronectin Deposits Glomerulopathy, With Fibronectin Deposits Glomerulopathy, With Fibronectin Deposits, Type 2
Pulmonary Plasma Cell Granuloma	Plasma Cell Granuloma, Pulmonary Granuloma, Plasma Cell, Pulmonary Lymphocytic Pseudotumor Of Lung Sclerosing Hemangiocytoma Of Lung
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Epithelioid Inflammatory Myofibroblastic Sarcoma
Inflammatory Myofibroblastic Tumor	Inflammatory Fibrosarcoma
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	CMTX5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease X-Linked Recessive 5 Optic Atrophy, Polyneuropathy, And Deafness Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 Cmt5x X-Linked Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 Optic Atrophy Polyneuropathy Deafness Optic Atrophy With Polyneuropathy And Deafness Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
Arts Syndrome	ARTS Mrxsarts Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision Mrxs18 Lethal Ataxia With Deafness And Optic Atrophy Fatal X-Linked Ataxia With Deafness And Loss Of Vision Mental Retardation, X-Linked, Syndromic, Arts Type Mental Retardation, X-Linked, Syndromic 18 Syndromic X-Linked Mental Retardation 18 Syndromic X-Linked Mental Retardation Arts Type Lethal Ataxia-Deafness-Optic Atrophy X-Linked Fatal Ataxia With Deafness And Loss Of Vision Ataxia-Deafness-Optic Atrophy, Lethal Lethal Ataxia With Hearing Loss And Optic Atrophy Art
Childhood Osteosarcoma	Pediatric Osteosarcoma
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Phase
HY-N0485	Liensinine Diperchlorate	Inhibitor	99.96%	Phase 2
HY-135238	(rel)-RSD 921	Agonist	/	Phase 2

阻害性抗体 (1)

製品番号	製品名	製品効果	純度	Phase
HY-P990067	Evunzekibart	Inhibitor	97.02%	Phase 1

Pre-clinical Phase

Bioactive Molecules (18)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-N0499	Cyanidin Chloride	Inhibitor	99.43%	Unkown
HY-W011927	4,4'-Sulfonyldiphenol		99.81%	Unkown
HY-150252A	ATIC-IN-1 acetate		99.96%	Unkown
HY-133157	FAICAR		85.81%	Unkown
HY-N1448	Vincetoxicoside B	Inhibitor	99.70%	Unkown
HY-29244	ATIC-IN-2	Inhibitor	98.0%	Unkown
HY-150252	ATIC-IN-1		99.69%	Unkown
HY-N0499A	Cyanidin	Inhibitor	/	Unkown
HY-RS01156	ATIC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-141324	Tetraethyl butane-1,4-diylbis(phosphoramidate)		/	Unkown
HY-178468	PARP1-IN-47	Inhibitor	/	Unkown
HY-182246	MC2050	Inhibitor	/	Unkown
HY-N17727	Divaricatol		/	Unkown
HY-N20707	Castalagin		/	Unkown
HY-RS01126	ATE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-136263	Biotin-NAD+	Substrate	/	Unkown
HY-RS17124	Atic Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23569	Atic Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	ATIC	VGNC	VGNC:26264
Rattus norvegicus	ATIC	RGD	RGD:70879
Canis familiaris	ATIC	VGNC	VGNC:38229
Felis catus	ATIC	VGNC	VGNC:80144
Macaca mulatta	ATIC	VGNC	VGNC:70172
Mus musculus	ATIC	MGD	MGI:1351352
Others	ATIC	NCBI