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ATIC Gene

protein-coding   GIFtS: 67
GCID: GC02P216176

5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP...

  See ATIC-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP
Cyclohydrolase1 2
     AICARFT/IMPCHASE2
PURH2 3 5     HEL-S-70p2
Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP
Cyclohydrolase1 2
     IMPCHASE2
AICAR2 5     AICAR Formyltransferase/IMP Cyclohydrolase Bifunctional Enzyme2
5-Aminoimidazole-4-Carboxamide-1-Beta-D-Ribonucleotide
Transformylase/Inosinicase2
     Bifunctional Purine Biosynthesis Protein PURH2
AICARFT2     Epididymis Secretory Sperm Binding Protein Li 70p2

External Ids:    HGNC: 7941   Entrez Gene: 4712   Ensembl: ENSG000001383637   OMIM: 6017315   UniProtKB: P319393   

Export aliases for ATIC gene to outside databases

Previous GC identifers: GC02P214339 GC02P214901 GC02P216140 GC02P216379 GC02P216002 GC02P215885 GC02P208033


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include phosphoribosylaminoimidazolecarboxamide formyltransferase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939
Function: Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis

Gene Wiki entry for ATIC (Inosine monophosphate synthase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATIC gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATIC promoter sequence
   Search Chromatin IP Primers for ATIC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATIC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

ATIC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATIC gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P216176:  view genomic region     (about GC identifiers)

Start:
216,176,540 bp from pter      End:
216,214,496 bp from pter
Size:
37,957 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939 (See protein sequence)
Recommended Name: Bifunctional purine biosynthesis protein PURH  
Size: 592 amino acids; 64616 Da
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for ATIC:
1P4R (3D)        1PKX (3D)        1PL0 (3D)    
Secondary accessions: A8K202 E9PBU3 Q13856 Q53S28
Alternative splicing: 2 isoforms:  P31939-1   P31939-2   

Explore the universe of human proteins at neXtProt for ATIC: NX_P31939

Explore proteomics data for ATIC at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys14, Lys39, Lys66, Lys177, Lys199, Lys331, Lys389, Lys397, Lys437, Lys461
  • Modification sites at PhosphoSitePlus

  • See ATIC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004035.2  
    ENSEMBL proteins: 
     ENSP00000236959   ENSP00000388675   ENSP00000406792   ENSP00000415935   ENSP00000394317  
     ENSP00000402393   ENSP00000393485   ENSP00000401936   ENSP00000391399   ENSP00000440523  
    Reactome Protein details: P31939

    ATIC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for ATIC
    OriGene Protein Over-expression Lysate for ATIC
    OriGene MassSpec for ATIC
    OriGene Custom Protein Services for ATIC
    GenScript Custom Purified and Recombinant Proteins Services for ATIC
    Novus Biologicals ATIC Protein
    Novus Biologicals ATIC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATIC

     
    Search eBioscience for Proteins for ATIC 

     
    antibodies-online proteins for ATIC (7 products) 

     
    antibodies-online peptides for ATIC

    ATIC Antibody Products:

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    antibodies-online antibodies for ATIC (38 products) 

    ATIC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ATIC
    Cloud-Clone Corp. CLIAs for ATIC
    Search eBioscience for ELISAs for ATIC 
    antibodies-online kits for ATIC (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR024050 AICAR_Tfase_insert_dom
     IPR024051 AICAR_Tfase_dom
     IPR002695 AICARFT_IMPCHas
     IPR011607 MGS-like_dom
     IPR016193 Cytidine_deaminase-like

    Graphical View of Domain Structure for InterPro Entry P31939

    ProtoNet protein and cluster: P31939

    2 Blocks protein domains:
    IPB002695 AICARFT/IMPCHase bienzyme
    IPB011607 MGS-like


    UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939
    Domain: The IMP cyclohydrolase activity resides in the N-terminal region
    Similarity: Belongs to the PurH family


    Find genes that share domains with ATIC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PUR9_HUMAN, P31939
    Function: Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis
    Catalytic activity: 10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide =
    tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
    Catalytic activity: IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003937IMP cyclohydrolase activity TAS--
    GO:0004643phosphoribosylaminoimidazolecarboxamide formyltransferase activity TAS--
    GO:0042803protein homodimerization activity IPI14756553
         
    Find genes that share ontologies with ATIC           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATIC

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATIC:
    hsa-mir-1180-3p (MIRT035935), hsa-mir-93-3p (MIRT038893)

    Block miRNA regulation of human, mouse, rat ATIC using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ATIC
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ATIC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATIC

    Clone
    Products:
         
    OriGene clones in human, mouse for ATIC (see all 7)
    OriGene ORF clones in mouse, rat for ATIC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATIC (NM_004044)
    Sino Biological Human cDNA Clone for ATIC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATIC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATIC

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ATIC
    Browse ESI BIO Cell Lines and PureStem Progenitors for ATIC 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATIC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    plasma membrane2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ATIC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATIC About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.35
    One Carbon Metabolism0.53
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.00
    2Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.00
    Metabolism of nucleotides0.42
    inosine-5-phosphate biosynthesis0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4purine nucleotide salvage
    purine nucleotides de novo biosynthesis0.78
    5Purine metabolism (KEGG)
    Purine metabolism0.38


    Find genes that share SuperPaths with ATIC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ATIC
        One Carbon Metabolism
    inosine-5-phosphate biosynthesis
    purine nucleotides de novo biosynthesis


    1 Reactome Pathway for ATIC
        Purine ribonucleoside monophosphate biosynthesis

    2 PharmGKB Pathways for ATIC
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ATIC):
        Purine metabolism
    One carbon pool by folate
    Metabolic pathways

    UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATIC
    Interactions:

        GeneGlobe Interaction Network for ATIC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATIC (P319393 ENSP000002369594) via UniProtKB, MINT, STRING, and/or I2D (see all 188)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NME2P223923, ENSP000003655724I2D: score=2 STRING: ENSP00000365572
    EEF2P136393, ENSP000003079404I2D: score=4 STRING: ENSP00000307940
    PPATQ062033, ENSP000002642204I2D: score=3 STRING: ENSP00000264220
    PPP1CCP368733, ENSP000003350844I2D: score=3 STRING: ENSP00000335084
    HNRNPDLO149793, ENSP000002954704I2D: score=2 STRING: ENSP00000295470
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003360brainstem development IEA--
    GO:0006139nucleobase-containing compound metabolic process TAS8567683
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006189'de novo' IMP biosynthetic process IEA--

    Find genes that share ontologies with ATIC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATIC (PUR9)

    7 HMDB Compounds for ATIC    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Aminoimidazole-4-carboxamide4-Amino-5-Imidazolecarboxamide (see all 13)360-97-4--
    AICAR5'-P-ribosyl-5-amino-4-imidazole carboxamide (see all 6)3031-94-5--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    N10-Formyl-THF10-formyl-THF (see all 20)2800-34-2--
    Phosphoribosyl formamidocarboxamide5'-p-Ribosyl-5-formamido-4-imidazole carboxamide (see all 7)----
    Tetrahydrofolic acid(6S)-Tetrahydrofolate (see all 10)135-16-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 DrugBank Compounds for ATIC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-[5-Hydroxy-3-Methyl-1-(2-Methyl-4-Sulfo-Phenyl)-1h-Pyrazol-4-Ylazo]-4-Sulfo-Benzoic Acid-- --target--17139284 17016423 10592235
    5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine-- --target--17139284 17016423 10592235
    Aicar-- 3031-94-5target--17139284 17016423 10592235
    Beta-Dadf, Msa, Multisubstrate Adduct Inhibitor-- --target--17139284 17016423 10592235
    Guanosine-5'-Monophosphate-- 85-32-5target--17139284 17016423 10592235
    PemetrexedLY231514 (see all 2)150399-23-8targetinhibitor19549896 12571811 11524555
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor11948179 12974624
    MethotrexateAmethopterin (see all 12)59-05-2enzymeinhibitor17586865

    Selected Novoseek inferred chemical compound relationships for ATIC gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    faicar 97.5 10 7810885 (2), 7947835 (2), 9744084 (1)
    aicar 96.7 169 18709353 (9), 16151020 (7), 18326758 (7), 20404044 (5) (see all 40)
    thio-imp 89.9 1 7947835 (1)
    aica 88.7 3 16798121 (1), 10801888 (1)
    acadesine 85.4 7 17669398 (1), 18709353 (1), 16151020 (1), 18326758 (1) (see all 7)
    glycinamide ribonucleotide 84.7 2 1313737 (1), 9679969 (1)
    xanthosine-5'-monophosphate 80.9 2 17324932 (1), 7947835 (1)
    purine 79 22 15114530 (2), 12501179 (1), 9143321 (1), 10855951 (1) (see all 14)
    lometrexol 77.8 1 9679969 (1)
    inosine monophosphate 77.6 15 12974624 (1), 16798121 (1), 9556223 (1), 11096114 (1) (see all 8)

    1 PharmGKB related drug/compound annotation for ATIC gene    About this table
    Drug/compound PharmGKB Annotation
    methotrexateCA  



    Find genes that share compounds with ATIC           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATIC gene: 
    NM_004044.6  

    Unigene Cluster for ATIC:

    5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
    Hs.90280  [show with all ESTs]
    Unigene Representative Sequence: NM_004044
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000236959(uc002vex.4) ENST00000444305 ENST00000488712 ENST00000443953
    ENST00000435675(uc002vey.4) ENST00000427397 ENST00000413174 ENST00000446622
    ENST00000426233 ENST00000479093 ENST00000467388 ENST00000459796 ENST00000442048
    ENST00000478734 ENST00000540518(uc010zjo.2)
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATIC
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATIC (NM_004044)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATIC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATIC
    Primer
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    OriGene qPCR primer pairs and template standards for ATIC
    OriGene qSTAR qPCR primer pairs in human, mouse for ATIC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATIC
      QuantiTect SYBR Green Assays in human, mouse, rat ATIC
      QuantiFast Probe-based Assays in human, mouse, rat ATIC

    Additional mRNA sequence: 

    AB062403.1 AK313066.1 BC008879.2 D89976.1 

    22 DOTS entries:

    DT.318571  DT.95171983  DT.100756857  DT.100825148  DT.92458889  DT.40239353  DT.100825145  DT.120975512 
    DT.95171985  DT.101979967  DT.100770034  DT.120975563  DT.91802517  DT.92458900  DT.100825137  DT.100825142 
    DT.100825152  DT.120975532  DT.95171986  DT.95198014  DT.99953791  DT.100044501 

    Selected AceView cDNA sequences (see all 598):

    BM761467 AU118078 CB851320 BF208020 BG762674 AB062403 AI339696 BX953242 
    NM_004044 BE780899 AL536713 BM474597 AI264236 AU130548 BP430784 BQ056143 
    CR601137 BI911517 AA228145 BP381813 BM450765 CA420707 BU956890 BM470705 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATIC (see all 12)    About this scheme

    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:                                                                                                                                                            

    ExUns: 16 ^ 17 ^ 18 ^ 19
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:        -               


    ECgene alternative splicing isoforms for ATIC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATIC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTATGATC
    ATIC Expression
    About this image


    ATIC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    ATIC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATIC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.90280
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATIC gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atic1 , 5 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP more1, 5 85.59(n)1
    91.05(a)1
      1 (36.03 cM)5
    1081471  NM_026195.31  NP_080471.21 
     715571505 
    chicken
    (Gallus gallus)
    Aves ATIC1 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP more 75.68(n)
    83.84(a)
      396091  NM_205178.1  NP_990509.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    85(a)
    83(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    AAWZ02038392(5203-9321)
    1(116782961-116837967)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.36902 Xenopus laevis transcribed sequence with moderate similarity more 74.04(n)    CD253549.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atic2 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP more 75.54(n)   140622  BC045385.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG110891 , 3
    phosphoribosylaminoimidazole-carboxamide
    formyltransferase3
    CG110891
    71(a)3
    64.52(n)1
    70.85(a)1
      96B23
    429731  NM_143048.21  NP_651305.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C55F2.1b3
    C55F2.11
    C55F2.11 56(a)
    (best of 2)3
    60.5(n)1
    60.96(a)1
      IV(7882191-7900302)3
    1775761  NM_171912.51  NP_741452.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE17(YMR120C)4
    ADE171
    Enzyme of 'de novo' purine biosynthesis containing more4
    ADE171
    60.23(n)1
    62.05(a)1
      13(509280-507502)4
    8551491, 4  NP_013839.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G350401 AT2G35040 48.33(n)
    40.83(a)
      818069  NM_001202752.1  NP_001189681.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g02066001 Os08g0206600 46.2(n)
    40.66(a)
      4344931  NM_001067775.1  NP_001061240.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATIC gene

    Find genes that share paralogs with ATIC           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATIC
    PGOHUM00000246108


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATIC (see all 1046)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0193074
    AICAR transformylase/IMP cyclohydrolase deficiency (AICAR)4--see VAR_0193072 K R mis40--------
    rs1214344781,2
    Cpathogenic1215595330(+) TGTCAA/GGTACA 2 K R mis10--------
    rs563900421,2
    C--208033087(+) AAAAAA/CAAAAA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1417135181,2
    --208033087(+) AAAAA-/CAAAAA 1 -- us2k10--------
    rs1406578501,2
    C--208049383(+) ATAGA-/TTTTTTT 1 -- int11Minor allele frequency- TT:0.00CSA 2
    rs75788501,2
    C,F,A,H--215560493(+) ATAATG/CTTAAT 1 -- us2k120Minor allele frequency- C:0.17NS EA NA WA CSA 1609
    rs1430695011,2
    --215560500(+) TAATAC/TATTCC 1 -- us2k10--------
    rs1474849871,2
    --215560508(+) TCCTCA/GTAGGA 1 -- us2k10--------
    rs75788651,2
    C,F,H--215560540(+) AAGGGT/CTAACA 1 -- us2k1 tfbs321Minor allele frequency- C:0.15NS EA NA WA CSA 1565
    rs1400289411,2
    C--215560592(+) GCTCAC/TGCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATIC (216176540 - 216214496 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATIC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834536CNV Loss17160897
    nsv819860CNV Loss19587683
    nsv875836CNV Gain21882294

    Human Gene Mutation Database (HGMD): ATIC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATIC
    DNA2.0 Custom Variant and Variant Library Synthesis for ATIC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601731   
    OMIM disorders: 608688  
    UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 1 disease for ATIC:    
    About MalaCards
    aica-ribosiduria due to atic deficiency

    2 diseases from the University of Copenhagen DISEASES database for ATIC:
    Anaplastic large cell lymphoma     Diabetes mellitus

    Find genes that share disorders with ATIC           About GenesLikeMe

    4 Novoseek inferred disease relationships for ATIC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia l1210 49.7 2 1313737 (1)
    rheumatoid arthritis 46.2 5 10855951 (2), 15457444 (1), 20404044 (1)
    leukemia 0 1 9556223 (1)
    tumors 0 1 18326758 (1)

    Genetic Association Database (GAD): ATIC
    Human Genome Epidemiology (HuGE) Navigator: ATIC (22 documents)

    Export disorders for ATIC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATIC gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with ATIC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping. (PubMed id 8567683)1, 2, 3, 9 Rayl E.A.... Beardsley G.P. (J. Biol. Chem. 1996)
    2. Characterization of molecularly cloned human 5-aminoimidazole-4- carboxamide ribonucleotide transformylase. (PubMed id 9378707)1, 2, 3, 9 Sugita T.... Kawashima K. (J. Biochem. 1997)
    3. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. (PubMed id 15114530)1, 2, 9 Marie S....Vincent M.-F. (Am. J. Hum. Genet. 2004)
    4. Crystal structures of human bifunctional enzyme aminoimidazole-4- carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates. (PubMed id 14966129)1, 2, 9 Cheong C.-G....Wilson I.A. (J. Biol. Chem. 2004)
    5. Structural insights into the human and avian IMP cyclohydrolase mechanism via crystal structures with the bound XMP inhibitor. (PubMed id 14756553)1, 2, 9 Wolan D.W.... Wilson I.A. (Biochemistry 2004)
    6. Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. (PubMed id 19193698)1, 4, 9 Lee Y.C....Karlson E.W. (Rheumatology (Oxford) 2009)
    7. ABCB1 C3435T polymorphism influences methotrexate sensitivity in rheumatoid arthritis patients. (PubMed id 17181924)1, 4, 9 Takatori R....Kubo T. (Clin. Exp. Rheumatol. 2006)
    8. Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. (PubMed id 15457444)1, 4, 9 Dervieux T....Kremer J. (Arthritis Rheum. 2004)
    9. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. (PubMed id 19016697)1, 4, 9 Warren R.B....Griffiths C.E. (Br. J. Dermatol. 2009)
    10. Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians. (PubMed id 19902562)1, 4, 9 Sharma S....K T.B. (Pharmacogenet. Genomics 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 471 HGNC: 794 AceView: ATIC Ensembl:ENSG00000138363 euGenes: HUgn471
    ECgene: ATIC Kegg: 471 H-InvDB: ATIC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATIC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATIC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATIC gene:
    Search GeneIP for patents involving ATIC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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