Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATIC Gene

Aliases for ATIC Gene

  • 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase 2 3
  • PURH 3 4 6
  • Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP Cyclohydrolase 2 3
  • AICAR 3 6
  • 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
  • Bifunctional Purine Biosynthesis Protein PURH 3
  • AICARFT/IMPCHASE 3
  • HEL-S-70p 3
  • IMPCHASE 3
  • AICARFT 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 Metabolism and Metabolism. 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.

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

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

Genomic Location for ATIC Gene

Start:
215,311,817 bp from pter
End:
215,349,773 bp from pter
Size:
37,957 bases
Orientation:
Plus strand

Genomic View for ATIC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P31939-PUR9_HUMAN
    Recommended name:
    Bifunctional purine biosynthesis protein PURH
    Protein Accession:
    P31939
    Secondary Accessions:
    • A8K202
    • E9PBU3
    • Q13856
    • Q53S28

    Protein attributes for ATIC Gene

    Size:
    592 amino acids
    Molecular mass:
    64616 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ATIC Gene

    Alternative splice isoforms for ATIC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATIC Gene

Proteomics data for ATIC Gene at MOPED

Post-translational modifications for ATIC Gene

  • Ubiquitination at Lys14, Lys39, Lys66, Lys177, Lys199, Lys331, Lys389, Lys397, Lys437, and Lys461
  • Modification sites at PhosphoSitePlus

Other Protein References for ATIC Gene

No data available for DME Specific Peptides for ATIC Gene

Domains for ATIC Gene

Graphical View of Domain Structure for InterPro Entry

P31939

UniProtKB/Swiss-Prot:

PUR9_HUMAN :
  • P31939
Domain:
  • The IMP cyclohydrolase activity resides in the N-terminal region
Family:
  • 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.

Gene Ontology (GO) - Molecular Function for ATIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003937 IMP cyclohydrolase activity TAS --
GO:0004643 phosphoribosylaminoimidazolecarboxamide formyltransferase activity TAS --
GO:0042803 protein homodimerization activity IPI 14756553
genes like me logo Genes that share ontologies with ATIC: view

miRNA for ATIC Gene

miRTarBase miRNAs that target ATIC

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

Localization for ATIC Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ATIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ATIC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATIC Gene

Pathways 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:0003360 brainstem development IEA --
GO:0006139 nucleobase-containing compound metabolic process TAS 8567683
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process --
GO:0006189 de novo IMP biosynthetic process IEA --
genes like me logo Genes that share ontologies with ATIC: view

Compounds for ATIC Gene

(7) HMDB Compounds for ATIC Gene

Compound Synonyms Cas Number PubMed IDs
5-Aminoimidazole-4-carboxamide
  • 4-Amino-5-Imidazolecarboxamide
360-97-4
AICAR
  • 5'-P-ribosyl-5-amino-4-imidazole carboxamide
3031-94-5
Inosinic acid
  • 5'-IMP
131-99-7
N10-Formyl-THF
  • 10-formyl-THF
2800-34-2
Phosphoribosyl formamidocarboxamide
  • 5'-p-Ribosyl-5-formamido-4-imidazole carboxamide
Not Available

(17) Novoseek inferred chemical compound relationships for ATIC Gene

Compound -log(P) Hits PubMed IDs
faicar 97.5 5
aicar 96.7 91
thio-imp 89.9 1
aica 88.7 2
acadesine 85.4 7

(1) PharmGKB related drug/compound annotations for ATIC Gene

Drug/compound Annotation
methotrexate CA
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: - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - - -
SP8: - - -
SP9: - - - - -
SP10: -
SP11: -
SP12:

ExUns: 16 ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ATIC Gene

GeneLoc Exon Structure for
ATIC
ECgene alternative splicing isoforms for
ATIC

Expression for ATIC Gene

mRNA expression in normal human tissues for ATIC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with ATIC: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia ATIC 35
  • 99.44 (n)
  • 99.83 (a)
ATIC 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATIC 35
  • 88.29 (n)
  • 93.58 (a)
ATIC 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATIC 35
  • 90.03 (n)
  • 94.76 (a)
ATIC 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atic 35
  • 85.59 (n)
  • 91.05 (a)
Atic 16
Atic 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATIC 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATIC 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atic 35
  • 86.15 (n)
  • 91.22 (a)
chicken
(Gallus gallus)
Aves ATIC 35
  • 75.68 (n)
  • 83.84 (a)
PURH 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.3690 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atic 35
  • 71.21 (n)
  • 77.68 (a)
Str.5416 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10590 35
zebrafish
(Danio rerio)
Actinopterygii atic 35
  • 70.41 (n)
  • 79.73 (a)
atic 36
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001423 35
  • 61.53 (n)
  • 68.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11089 35
  • 64.52 (n)
  • 70.85 (a)
CG11089 36
  • 70 (a)
OneToOne
CG11089 37
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea C55F2.1 35
  • 60.5 (n)
  • 60.96 (a)
C55F2.1 36
  • 59 (a)
OneToOne
C55F2.1a 37
  • 55 (a)
C55F2.1b 37
  • 56 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR213C 35
  • 59.64 (n)
  • 60.54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE16 36
  • 60 (a)
OneToOne
ADE17 35
  • 60.23 (n)
  • 62.05 (a)
ADE17 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17655g 35
  • 60.49 (n)
  • 61.9 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35040 35
  • 48.33 (n)
  • 40.83 (a)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for ATIC (if available)
TreeFam:
Gene Tree for ATIC (if available)

Paralogs for ATIC Gene

Pseudogenes.org 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 MAF
rs957480 -- 215,345,437(+) GTGAC(C/T)GCTGC intron-variant
rs1404772 -- 215,345,576(-) CACCA(G/T)GTGAA intron-variant
rs1474397 -- 215,320,382(-) aacct(A/G)ttttc intron-variant
rs1568872 -- 215,339,171(+) ATCTG(A/G)CTCCT intron-variant
rs1803201 -- 215,326,890(+) AAAGG(C/T)GTATC reference, synonymous-codon

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

Relevant External Links for ATIC Gene

HapMap Linkage Disequilibrium report
ATIC
Human Gene Mutation Database (HGMD)
ATIC

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

Disorders for ATIC Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ATIC Gene including...

Search for ATIC Gene in MalaCards »

(1) OMIM Diseases for ATIC Gene (601731)

UniProtKB/Swiss-Prot

PUR9_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for ATIC Gene

(4) Novoseek inferred disease relationships for ATIC Gene

Disease -log(P) Hits PubMed IDs
leukemia l1210 49.7 1
rheumatoid arthritis 46.2 4
leukemia 0 1
tumors 0 1

Relevant External Links for ATIC

Genetic Association Database (GAD)
ATIC
Human Genome Epidemiology (HuGE) Navigator
ATIC
genes like me logo Genes that share disorders with ATIC: view

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
  2. Characterization of molecularly cloned human 5-aminoimidazole-4- carboxamide ribonucleotide transformylase. (PMID: 9378707) Sugita T. … Kawashima K. (J. Biochem. 1997) 2 3 4 23
  3. Structural insights into the human and avian IMP cyclohydrolase mechanism via crystal structures with the bound XMP inhibitor. (PMID: 14756553) Wolan D.W. … Wilson I.A. (Biochemistry 2004) 3 4 23
  4. Crystal structures of human bifunctional enzyme aminoimidazole-4- carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates. (PMID: 14966129) Cheong C.-G. … Wilson I.A. (J. Biol. Chem. 2004) 3 4 23
  5. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. (PMID: 15114530) Marie S. … Vincent M.-F. (Am. J. Hum. Genet. 2004) 3 4 23

Products for ATIC Gene

Sources for ATIC Gene

Back to Top

Content