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] See more...

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
  • Bifunctional Purine Biosynthesis Protein PURH 3 4
  • 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
  • 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 Aicar Transformylase/Imp Cyclohydrolase Deficiency and Pediatric Osteosarcoma. Among its related pathways are purine nucleotides de novo biosynthesis and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and phosphoribosylaminoimidazolecarboxamide formyltransferase activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ATIC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATIC Gene

Genomics for ATIC Gene

GeneHancer (GH) Regulatory Elements for ATIC Gene

Promoters and enhancers for ATIC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J215310 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 537.8 +1.5 1526 5.8 EP300 FOXK2 ZBTB40 ZNF217 NRF1 MYC USF1 POLR2G SP1 PHF8 ATIC XRCC5 ENSG00000286836 piR-43886
GH02J215297 Enhancer 0.7 Ensembl ENCODE 29.2 -14.4 -14355 1.2 FOXA2 FOSL2 ZMYM3 KDM1A ZBTB33 MAFK ZNF384 ZNF579 CHD4 FOXA1 ATIC ENSG00000236478 RF01210-227 ENSG00000286836 ENSG00000237571
GH02J215331 Enhancer 0.6 ENCODE 34 +20.7 20742 2.2 IRF4 EBF1 IKZF1 PAX5 TBX21 JUNB MTA2 IKZF2 RAD51 ARID3A ATIC piR-43886 lnc-FN1-4
GH02J215326 Enhancer 0.6 Ensembl ENCODE 34.6 +16.2 16169 3.1 AGO2 POLR2A CBFA2T3 ATIC piR-43886 lnc-FN1-4
GH02J215826 Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +519.0 519045 10.8 EP300 FOXK2 ZNF217 CTCF MYC TCF12 POLR2G NCOR1 KDM6A TCF7 LINC01963 FN1 ATIC LINC00607 piR-61945-291
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATIC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATIC

Top Transcription factor binding sites by QIAGEN in the ATIC gene promoter:
  • AML1a

Genomic Locations for ATIC Gene

Genomic Locations for ATIC Gene
chr2:215,311,956-215,349,773
(GRCh38/hg38)
Size:
37,818 bases
Orientation:
Plus strand
chr2:216,176,540-216,214,496
(GRCh37/hg19)
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 Lys14, Lys39, Lys66, Lys177, Lys199, Lys331, Lys389, Lys397, Lys437, and Lys461
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATIC Gene

Domains & Families for ATIC Gene

Gene Families for ATIC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ATIC Gene

Suggested Antigen Peptide Sequences for ATIC Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75424, highly similar to Human AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme (purH) mRNA (A8K202_HUMAN)
  • Bifunctional purine biosynthesis protein PURH (PUR9_HUMAN)

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

Function for ATIC Gene

Molecular function for ATIC Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-10-formyltetrahydrofolate + 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide = (6S)-5,6,7,8-tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide; Xref=Rhea:RHEA:22192, ChEBI:CHEBI:57453, ChEBI:CHEBI:57454, ChEBI:CHEBI:58467, ChEBI:CHEBI:58475; EC=2.1.2.3;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + IMP = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide; Xref=Rhea:RHEA:18445, ChEBI:CHEBI:15377, ChEBI:CHEBI:58053, ChEBI:CHEBI:58467; EC=3.5.4.10;.

Phenotypes From GWAS Catalog for ATIC Gene

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 IBA,IEA 21873635
GO:0004643 phosphoribosylaminoimidazolecarboxamide formyltransferase activity IEA,IBA 21873635
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

CRISPR Products

Clone Products

  • Addgene plasmids for ATIC

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
plasma membrane 5
cytosol 5
nucleus 3
extracellular 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 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,IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Target, Enzyme, inhibitor Folate antagonist,inhibits DFHR 1796
Pemetrexed Approved, Investigational Pharma Target, inhibitor TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates 815
Water Approved Pharma 0
AICAR Experimental, Investigational Pharma Target AMPK activator 0
Guanosine monophosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolic acid
  • 10-Formyl-(6Rs)-tetrahydrofolic acid
  • 10-Formyl-H4pteglu1
  • 10-Formyl-tetrahydrofolate
2800-34-2
5-Aminoimidazole-4-carboxamide
  • 4-amino-5-Carbamoylimidazole
  • 4-amino-5-Imidazolecarboxamide
  • 5(4)-amino-4(5)-Imidazolecarboxamide
  • 5-amino-4-Imidazolecarboxyamide
  • 4-Aminoimidazole-5-carboxamide
360-97-4
Phosphoribosyl formamidocarboxamide
  • 1-(5'-Phosphoribosyl)-5-formamido-4-imidazolecarboxamide
  • 5'-Phosphoribosyl-5-formamido-4-imidazolecarboxamide
  • 5-formamido-1-(5-Phosphoribosyl)imidazole-4-carboxamide
  • FAICAR
  • 5'-P-Ribosyl-5-formamido-4-imidazole 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

mRNA/cDNA for ATIC Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ATIC

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

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, MaxQB, and MOPED for ATIC Gene



Protein tissue co-expression partners for ATIC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATIC

SOURCE GeneReport for Unigene cluster for ATIC Gene:

Hs.90280

Evidence on tissue expression from TISSUES for ATIC Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(4.7)
  • Pancreas(4.6)
  • Intestine(3.9)
  • Heart(3.3)
  • Muscle(3.2)
  • Blood(2.7)
  • Eye(2.7)
  • Lung(2.6)
  • Kidney(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATIC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Pelvis:
  • vagina
  • vulva
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ATIC: view

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 31 30
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATIC 31 30
  • 90.03 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATIC 31
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATIC 31 30
  • 88.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atic 30
  • 86.15 (n)
mouse
(Mus musculus)
Mammalia Atic 17 31 30
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia ATIC 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PURH 31
  • 83 (a)
OneToOne
ATIC 30
  • 75.68 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 85 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atic 30
  • 71.21 (n)
Str.5416 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3690 30
zebrafish
(Danio rerio)
Actinopterygii atic 31 30 30
  • 70.41 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10590 30
fruit fly
(Drosophila melanogaster)
Insecta CG11089 31 32 30
  • 64.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001423 30
  • 61.53 (n)
worm
(Caenorhabditis elegans)
Secernentea C55F2.1 31 30
  • 60.5 (n)
OneToOne
C55F2.1b 32
  • 56 (a)
C55F2.1a 32
  • 55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17655g 30
  • 60.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE17 30
  • 60.23 (n)
ADE16 33 31
  • 60 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR213C 30
  • 59.64 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35040 30
  • 48.33 (n)
rice
(Oryza sativa)
Liliopsida Os08g0206600 30
  • 46.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02629 30
  • 58.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade10 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATIC: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATIC Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
638424 Uncertain Significance: AICAR transformylase/IMP cyclohydrolase deficiency 215,326,838(+) C/A MISSENSE_VARIANT
666359 Uncertain Significance: AICAR transformylase/IMP cyclohydrolase deficiency 215,326,013(+) G/A MISSENSE_VARIANT
666360 Pathogenic: AICAR transformylase/IMP cyclohydrolase deficiency 215,349,244(+) A/T NONSENSE
709360 Likely Benign: not provided 215,344,856(+) C/T SYNONYMOUS_VARIANT
710795 Benign: not provided 215,326,890(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATIC Gene

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)

Additional Variant Information for ATIC Gene

Human Gene Mutation Database (HGMD)
ATIC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATIC

SNP Genotyping and Copy Number Assay Products

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

Disorders for ATIC Gene

MalaCards: The human disease database

(9) MalaCards diseases for ATIC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aicar transformylase/imp cyclohydrolase deficiency
  • atic deficiency
pediatric osteosarcoma
  • childhood osteosarcoma
epithelioid inflammatory myofibroblastic sarcoma
charcot-marie-tooth disease, x-linked recessive, 5
  • optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
rheumatoid arthritis
  • ra
- 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.

Additional Disease Information for ATIC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Characterization of molecularly cloned human 5-aminoimidazole-4-carboxamide ribonucleotide transformylase. (PMID: 9378707) Sugita T … Kawashima K (Journal of biochemistry 1997) 2 3 4 23 54
  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 EA … Beardsley GP (The Journal of biological chemistry 1996) 2 3 4 23 54
  3. Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians. (PMID: 19902562) Sharma S … K TB (Pharmacogenetics and genomics 2009) 3 23 41 54
  4. Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. (PMID: 19193698) Lee YC … Karlson EW (Rheumatology (Oxford, England) 2009) 3 23 41 54
  5. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. (PMID: 19016697) Warren RB … Griffiths CE (The British journal of dermatology 2009) 3 23 41 54

Products for ATIC Gene

Sources for ATIC Gene