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 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
  • Bifunctional Purine Biosynthesis Protein PURH 3
  • AICARFT/IMPCHASE 3
  • HEL-S-70p 3
  • IMPCHASE 3
  • AICARFT 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 Mental Retardation Epilepsy. Among its related pathways are 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F215310 1.1 ENCODE 37.9 +1.5 1505 5.5 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ATIC PIR36885
GH02F215331 0.7 ENCODE 34 +20.9 20881 2.2 ZFP64 ZNF101 ZNF664 ZNF547 ZNF680 MTA2 ZBTB11 JUNB ZBTB8A ZNF781 ATIC PIR36885
GH02F215326 0.6 ENCODE 34.6 +16.3 16308 3.1 GATA3 POLR2A JUNB MNT TBX21 ATIC PIR36885
GH02F215826 1.8 FANTOM5 Ensembl ENCODE 9.8 +519.1 519069 9.0 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ATIC LINC00607 ENSG00000216721
GH02F215917 1.5 FANTOM5 Ensembl ENCODE 10 +607.5 607458 3.6 WRNIP1 FEZF1 SLC30A9 JUNB REST TBX21 PPARG KAT8 MIER3 SMARCA4 ATIC ENSG00000226276 LOC105373870
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000018590 283 1801 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207

Genomic Location for ATIC Gene

Chromosome:
2
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

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:
    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 (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

    UniProtKB/Swiss-Prot:

neXtProt entry for ATIC Gene

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

No data available for DME Specific Peptides for ATIC Gene

Domains & Families for ATIC Gene

Graphical View of Domain Structure for InterPro Entry

P31939

UniProtKB/Swiss-Prot:

PUR9_HUMAN :
  • The IMP cyclohydrolase activity resides in the N-terminal region.
  • Belongs to the PurH family.
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.
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:0003824 catalytic activity IEA --
GO:0003937 IMP cyclohydrolase activity IEA,TAS --
GO:0004643 phosphoribosylaminoimidazolecarboxamide formyltransferase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0016787 hydrolase activity IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATIC gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
plasma membrane 3
nucleus 3
peroxisome 2
endoplasmic reticulum 2
cytoskeleton 1
lysosome 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:0005913 cell-cell adherens junction IDA 25468996
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 & 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:0003360 brainstem development IEA --
GO:0006139 nucleobase-containing compound metabolic process TAS 8567683
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006189 de novo IMP biosynthetic process IEA --
GO:0008152 metabolic process IEA --
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

(15) Drugs for ATIC Gene - From: DrugBank, PharmGKB, ApexBio, 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 1518
Pemetrexed Approved, Investigational Pharma Target, inhibitor TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates 617
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Alimta Approved February 2004 Pharma 0
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
5-Aminoimidazole-4-carboxamide
  • 4-Amino-5-Imidazolecarboxamide
  • 4-Aminoimidazole-5-carboxamide
  • 4-Carbamoyl-5-aminoimidazole
  • 4-Carboxamido-5-aminoimidazole
  • 5-Amino-1H-Imidazole-4-carboxamide
360-97-4
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

(1) ApexBio Compounds for ATIC Gene

Compound Action Cas Number
Pemetrexed TS, DHFR,GARFT and AICARFT inhibitor 150399-23-8
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATIC Gene



Protein tissue co-expression partners for ATIC Gene

NURSA nuclear receptor signaling pathways regulating expression of ATIC Gene:

ATIC

SOURCE GeneReport for Unigene cluster for ATIC Gene:

Hs.90280
genes like me logo Genes that share expression patterns with ATIC: view

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
chimpanzee
(Pan troglodytes)
Mammalia ATIC 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia ATIC 34 35
  • 90.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATIC 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATIC 34 35
  • 88.29 (n)
rat
(Rattus norvegicus)
Mammalia Atic 34
  • 86.15 (n)
mouse
(Mus musculus)
Mammalia Atic 16 35 34
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia ATIC 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PURH 35
  • 83 (a)
OneToOne
ATIC 34
  • 75.68 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 85 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atic 34
  • 71.21 (n)
Str.5416 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3690 34
zebrafish
(Danio rerio)
Actinopterygii atic 34 35
  • 70.41 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10590 34
fruit fly
(Drosophila melanogaster)
Insecta CG11089 36 34 35
  • 64.52 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001423 34
  • 61.53 (n)
worm
(Caenorhabditis elegans)
Secernentea C55F2.1 34 35
  • 60.5 (n)
C55F2.1b 36
  • 56 (a)
C55F2.1a 36
  • 55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17655g 34
  • 60.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE17 34 37
  • 60.23 (n)
ADE16 35
  • 60 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR213C 34
  • 59.64 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35040 34
  • 48.33 (n)
rice
(Oryza sativa)
Liliopsida Os08g0206600 34
  • 46.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02629 34
  • 58.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade10 34
  • 57.79 (n)
Species where no ortholog for ATIC was found in the sources mined by GeneCards:
  • 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
rs121434478 AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688], Pathogenic 215,344,828(+) TGTCA(A/G)GTACA reference, missense
rs4673993 drug-response 215,347,616(+) TTTTA(C/T)TCAGG intron-variant
rs10175961 -- 215,344,808(+) CTCAT(C/G/T)GTAGC reference, synonymous-codon, missense
rs10179873 -- 215,333,326(+) TGTTT(A/G)TGATT intron-variant
rs10180997 -- 215,351,164(+) agaga(C/T)gccat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv819860 CNV loss 19587683
nsv834536 CNV loss 17160897

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)
ATIC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATIC

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

Disorders for ATIC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
aica-ribosiduria due to atic deficiency
  • aicar transformylase/imp cyclohydrolase deficiency
mental retardation epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search ATIC in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ATIC

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

No data available for Genatlas for ATIC Gene

Publications for ATIC Gene

  1. Characterization of molecularly cloned human 5-aminoimidazole-4- carboxamide ribonucleotide transformylase. (PMID: 9378707) Sugita T. … Kawashima K. (J. Biochem. 1997) 2 3 4 22 64
  2. 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 22 64
  3. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. (PMID: 19016697) Warren R.B. … Griffiths C.E. (Br. J. Dermatol. 2009) 3 22 46 64
  4. 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 22 46 64
  5. Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians. (PMID: 19902562) Sharma S. … K T.B. (Pharmacogenet. Genomics 2009) 3 22 46 64

Products for ATIC Gene

Sources for ATIC Gene

Content
Loading form....