InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATIC

Summary

InnateDB Protein

IDBP-80215.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATIC

Protein Name

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

Synonyms

AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH;

Species

Homo sapiens

Ensembl Protein

ENSP00000236959

InnateDB Gene

IDBG-80213 (ATIC)

Protein Structure

UniProt Annotation

Function

Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis. {ECO:0000269PubMed:14966129}.

Subcellular Localization

Disease Associations

AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688]: A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA- riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. {ECO:0000269PubMed:15114530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.

Experimentally validated
Total	50 [view]
Protein-Protein	50 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003937	IMP cyclohydrolase activity
GO:0004643	phosphoribosylaminoimidazolecarboxamide formyltransferase activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0003360	brainstem development
GO:0006139	nucleobase-containing compound metabolic process
GO:0006144	purine nucleobase metabolic process
GO:0006164	purine nucleotide biosynthetic process
GO:0006189	'de novo' IMP biosynthetic process
GO:0009116	nucleoside metabolic process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process
GO:0009259	ribonucleotide metabolic process
GO:0010035	response to inorganic substance
GO:0021549	cerebellum development
GO:0021987	cerebral cortex development
GO:0031100	organ regeneration
GO:0044281	small molecule metabolic process
GO:0046452	dihydrofolate metabolic process
GO:0046654	tetrahydrofolate biosynthetic process
GO:0055086	nucleobase-containing small molecule metabolic process