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Aliases for ATIC Gene

Aliases for ATIC Gene

  • 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase 2 3 5
  • Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP Cyclohydrolase 2 3
  • PURH 3 4
  • 5-Aminoimidazole-4-Carboxamide-1-Beta-D-Ribonucleotide Transformylase/Inosinicase 3
  • AICAR Formyltransferase/IMP Cyclohydrolase Bifunctional Enzyme 3
  • Epididymis Secretory Sperm Binding Protein Li 70p 3
  • HEL-S-70p 3
  • AICAR 3

External Ids for ATIC Gene

Previous GeneCards Identifiers for ATIC Gene

  • GC02P214339
  • GC02P214901
  • GC02P216140
  • GC02P216379
  • GC02P216002
  • GC02P215885
  • GC02P216176
  • GC02P208033

Summaries for ATIC Gene

Entrez Gene Summary for ATIC Gene

  • 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]

GeneCards Summary for ATIC Gene

ATIC (5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase) is a Protein Coding gene. Diseases associated with ATIC include Aica-Ribosiduria Due To Atic Deficiency and Aica-Ribosiduria. Among its related pathways are Purine metabolism and One carbon pool by folate. GO annotations related to this gene include protein homodimerization activity and phosphoribosylaminoimidazolecarboxamide formyltransferase activity.

UniProtKB/Swiss-Prot for ATIC Gene

  • Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.

  • Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).

Gene Wiki entry for ATIC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATIC Gene

Genomics for ATIC Gene

Regulatory Elements for ATIC Gene

Enhancers for ATIC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATIC on UCSC Golden Path with GeneCards custom track

Promoters for ATIC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATIC on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATIC gene promoter:

Genomic Location for ATIC Gene

215,311,817 bp from pter
215,349,773 bp from pter
37,957 bases
Plus strand

Genomic View for ATIC Gene

Genes around ATIC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATIC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATIC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATIC Gene

Proteins for ATIC Gene

  • Protein details for ATIC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Bifunctional purine biosynthesis protein PURH
    Protein Accession:
    Secondary Accessions:
    • A8K202
    • E9PBU3
    • Q13856
    • Q53S28

    Protein attributes for ATIC Gene

    592 amino acids
    Molecular mass:
    64616 Da
    Quaternary structure:
    • Homodimer (PubMed:14756553, PubMed:14966129). Associates with internalized INSR complexes on Golgi/endosomal membranes. Interacts with INSR; ATIC together with PRKAA2/AMPK2 and HACD3/PTPLAD1 is proposed to be part of a signaling network regulating INSR autophosphorylation and endocytosis (PubMed:25687571).

    Three dimensional structures from OCA and Proteopedia for ATIC Gene

    Alternative splice isoforms for ATIC Gene


neXtProt entry for ATIC Gene

Proteomics data for ATIC Gene at MOPED

Post-translational modifications for ATIC Gene

  • Ubiquitination at Lys 14, Lys 39, Lys 66, Lys 177, Lys 199, Lys 331, Lys 389, Lys 397, Lys 437, and Lys 461
  • Modification sites at PhosphoSitePlus

Other Protein References for ATIC Gene

No data available for DME Specific Peptides for ATIC Gene

Domains & Families for ATIC Gene

Graphical View of Domain Structure for InterPro Entry



  • The IMP cyclohydrolase activity resides in the N-terminal region.
  • Belongs to the PurH family.
  • The IMP cyclohydrolase activity resides in the N-terminal region.
  • Belongs to the PurH family.
genes like me logo Genes that share domains with ATIC: view

No data available for Gene Families for ATIC Gene

Function for ATIC Gene

Molecular function for ATIC Gene

UniProtKB/Swiss-Prot CatalyticActivity:
10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide = tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.
UniProtKB/Swiss-Prot CatalyticActivity:
IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.
UniProtKB/Swiss-Prot Function:
Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.
UniProtKB/Swiss-Prot Function:
Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).

Gene Ontology (GO) - Molecular Function for ATIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003937 IMP cyclohydrolase activity IEA,TAS --
GO:0042803 protein homodimerization activity IPI 14756553
genes like me logo Genes that share ontologies with ATIC: view
genes like me logo Genes that share phenotypes with ATIC: view

Human Phenotype Ontology for ATIC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATIC Gene

Localization for ATIC Gene

Subcellular locations from

Jensen Localization Image for ATIC Gene COMPARTMENTS Subcellular localization image for ATIC gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 4
nucleus 3
plasma membrane 3
endoplasmic reticulum 2
lysosome 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATIC Gene

Pathways & Interactions for ATIC Gene

genes like me logo Genes that share pathways with ATIC: view

UniProtKB/Swiss-Prot P31939-PUR9_HUMAN

  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (10-formyl THF route): step 1/1.
  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1.

Gene Ontology (GO) - Biological Process for ATIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006189 de novo IMP biosynthetic process IEA --
GO:0009116 nucleoside metabolic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with ATIC: view

No data available for SIGNOR curated interactions for ATIC Gene

Drugs & Compounds for ATIC Gene

(14) Drugs for ATIC Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Enzyme, inhibitor Folate antagonist,inhibits DFHR, Cytotoxic agent 1466
Pemetrexed Approved, Investigational Pharma Target, inhibitor TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates 587
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Alimta Approved February 2004 Pharma 0
AICAR Experimental Pharma Target AMPK activator 0

(14) Additional Compounds for ATIC Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
  • 4-Amino-5-Imidazolecarboxamide
  • 4-Aminoimidazole-5-carboxamide
  • 4-Carbamoyl-5-aminoimidazole
  • 4-Carboxamido-5-aminoimidazole
  • 5-Amino-1H-Imidazole-4-carboxamide
Phosphoribosyl formamidocarboxamide
  • 5'-p-Ribosyl-5-formamido-4-imidazole carboxamide
  • 5'-Phosphoribosyl-5-formamido-4-imidazole carboxamide
  • 5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
  • 5-Formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
  • 5-Formamido-1-(5-phosphoribosyl)-imidazole-4-carboxamide
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with ATIC: view

Transcripts for ATIC Gene

Unigene Clusters for ATIC Gene

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATIC Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15 ^
SP1: - - - -
SP7: - - -
SP8: - - -
SP9: - - - - -
SP10: -
SP11: -

ExUns: 16 ^ 17 ^ 18 ^ 19
SP5: -
SP6: -

Relevant External Links for ATIC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATIC Gene

mRNA expression in normal human tissues for ATIC Gene

Protein differential expression in normal tissues from HIPED for ATIC Gene

This gene is overexpressed in Bone marrow stromal cell (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATIC Gene

SOURCE GeneReport for Unigene cluster for ATIC Gene Hs.90280

genes like me logo Genes that share expression patterns with ATIC: view

Protein tissue co-expression partners for ATIC Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATIC Gene

Orthologs for ATIC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATIC Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ATIC 35
  • 88.29 (n)
  • 93.58 (a)
  • 94 (a)
(Canis familiaris)
Mammalia ATIC 35
  • 90.03 (n)
  • 94.76 (a)
  • 95 (a)
(Mus musculus)
Mammalia Atic 35
  • 85.59 (n)
  • 91.05 (a)
Atic 16
Atic 36
  • 91 (a)
(Pan troglodytes)
Mammalia ATIC 35
  • 99.44 (n)
  • 99.83 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Atic 35
  • 86.15 (n)
  • 91.22 (a)
(Monodelphis domestica)
Mammalia ATIC 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia ATIC 36
  • 89 (a)
(Gallus gallus)
Aves ATIC 35
  • 75.68 (n)
  • 83.84 (a)
  • 83 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
-- 36
  • 85 (a)
-- 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atic 35
  • 71.21 (n)
  • 77.68 (a)
Str.5416 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3690 35
(Danio rerio)
Actinopterygii atic 35
  • 70.41 (n)
  • 79.73 (a)
atic 36
  • 79 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10590 35
fruit fly
(Drosophila melanogaster)
Insecta CG11089 37
  • 71 (a)
CG11089 35
  • 64.52 (n)
  • 70.85 (a)
CG11089 36
  • 70 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001423 35
  • 61.53 (n)
  • 68.98 (a)
(Caenorhabditis elegans)
Secernentea C55F2.1a 37
  • 55 (a)
C55F2.1b 37
  • 56 (a)
C55F2.1 35
  • 60.5 (n)
  • 60.96 (a)
C55F2.1 36
  • 59 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR213C 35
  • 59.64 (n)
  • 60.54 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17655g 35
  • 60.49 (n)
  • 61.9 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE17 35
  • 60.23 (n)
  • 62.05 (a)
ADE16 36
  • 60 (a)
ADE17 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35040 35
  • 48.33 (n)
  • 40.83 (a)
(Oryza sativa)
Liliopsida Os08g0206600 35
  • 46.2 (n)
  • 40.66 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02629 35
  • 58.18 (n)
  • 61.63 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade10 35
  • 57.79 (n)
  • 61.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
Species with no ortholog for ATIC:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATIC Gene

Gene Tree for ATIC (if available)
Gene Tree for ATIC (if available)

Paralogs for ATIC Gene Pseudogenes for ATIC Gene

genes like me logo Genes that share paralogs with ATIC: view

No data available for Paralogs for ATIC Gene

Variants for ATIC Gene

Sequence variations from dbSNP and Humsavar for ATIC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs2372536 - 215,325,297(+) TGTAA(C/G)TGTTG reference, missense
VAR_019307 AICAR transformylase/IMP cyclohydrolase deficiency (AICAR)
rs1568872 -- 215,339,171(+) ATCTG(A/G)CTCCT intron-variant
rs1803201 -- 215,326,890(+) AAAGG(C/T)GTATC reference, synonymous-codon
rs1880586 -- 215,330,448(+) CTCCT(A/G)TTAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATIC Gene

Variant ID Type Subtype PubMed ID
nsv875836 CNV Gain 21882294
nsv834536 CNV Loss 17160897
nsv819860 CNV Loss 19587683

Variation tolerance for ATIC Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.19; 92.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATIC Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATIC Gene

Disorders for ATIC Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATIC Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
aica-ribosiduria due to atic deficiency
  • aica-ribosiduria
  • 5-amino-4-imidazole carboxamide ribosiduria
mental retardation epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search ATIC in MalaCards View complete list of genes associated with diseases


  • 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:0000269 PubMed:15114530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATIC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ATIC: view

No data available for Genatlas for ATIC Gene

Publications for ATIC Gene

  1. The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping. (PMID: 8567683) Rayl E.A. … Beardsley G.P. (J. Biol. Chem. 1996) 2 3 4 23 67
  2. Characterization of molecularly cloned human 5-aminoimidazole-4- carboxamide ribonucleotide transformylase. (PMID: 9378707) Sugita T. … Kawashima K. (J. Biochem. 1997) 2 3 23
  3. The enzymatic activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase is enhanced by NPM-ALK: new insights in ALK-mediated pathogenesis and the treatment of ALCL. (PMID: 18845790) Boccalatte F.E. … Inghirami G. (Blood 2009) 3 23
  4. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. (PMID: 19016697) Warren R.B. … Griffiths C.E. (Br. J. Dermatol. 2009) 3 23
  5. Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. (PMID: 19193698) Lee Y.C. … Karlson E.W. (Rheumatology (Oxford) 2009) 3 23

Products for ATIC Gene

Sources for ATIC Gene