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

Homo sapiens

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

Gene ID: 471 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-N0485	Liensinine Diperchlorate	Inhibitor	99.97%	Phase 2

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990067	Evunzekibart	Inhibitor	97.02%	Phase 1

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150252A	ATIC-IN-1 acetate		99.96%	Unkown
HY-N1448	Vincetoxicoside B	Inhibitor	99.90%	Unkown
HY-150252	ATIC-IN-1		99.69%	Unkown
HY-141324	Tetraethyl butane-1,4-diylbis(phosphoramidate)		/	Unkown
HY-E70121	Succinyl-CoA synthetase		/	Unkown
HY-RS01126	ATE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01156	ATIC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Canis lupus familiaris	ATIC	NCBI
Others	ATIC	NCBI

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