Version 5.4
Homo sapiens Gene: ATIC
Summary
InnateDB Gene IDBG-80213.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATIC
Gene Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Synonyms AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH
Species Homo sapiens
Ensembl Gene ENSG00000138363
Encoded Proteins
IDBP-80215
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388760
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388761
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388762
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388763
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388764
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388765
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388766
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IDBP-388767
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:215311817-215349773
Strand Forward strand
Band q35
Transcripts
ENST00000236959 ENSP00000236959
ENST00000444305 ENSP00000388675
ENST00000443953 ENSP00000406792
ENST00000435675 ENSP00000415935
ENST00000427397 ENSP00000394317
ENST00000413174 ENSP00000402393
ENST00000446622 ENSP00000393485
ENST00000426233 ENSP00000401936
ENST00000442048 ENSP00000391399
ENST00000488712
ENST00000479093
ENST00000467388
ENST00000459796
ENST00000478734
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
Cellular Component
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026192
View Gene Order
ENSBTAG00000019274
Not yet available
Pathways
NETPATH
REACTOME
REACT_1776
Purine ribonucleoside monophosphate biosynthesis pathway
REACT_1698
Metabolism of nucleotides pathway
REACT_522
Purine metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00670
One carbon pool by folate pathway
hsa00230
Purine metabolism pathway
INOH
INOH website
Folate metabolism pathway
INOH website
Purine nucleotides nucleosides metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.90280
RefSeq NM_004044 XM_006712545
HUGO
OMIM
CCDS CCDS2398
HPRD 03434
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca