ATIC

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]
Full Name
5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase
Function
Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis (PubMed:11948179, PubMed:14756554).
Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide) to produce the intermediate formyl-AICAR (FAICAR) (PubMed:9378707, PubMed:11948179, PubMed:10985775).
Can use both 10-formyldihydrofolate and 10-formyltetrahydrofolate as the formyl donor in this reaction (PubMed:10985775).
Also catalyzes the cyclization of FAICAR to IMP (PubMed:11948179, PubMed:14756554).
Is able to convert thio-AICAR to 6-mercaptopurine ribonucleotide, an inhibitor of purine biosynthesis used in the treatment of human leukemias (PubMed:10985775).
Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).
Biological Process
de novo' IMP biosynthetic process Source: GO_Central
Animal organ regeneration Source: Ensembl
Brainstem development Source: Ensembl
Cellular response to interleukin-7 Source: Ensembl
Cerebellum development Source: Ensembl
Cerebral cortex development Source: Ensembl
Dihydrofolate metabolic process Source: Ensembl
Nucleobase-containing compound metabolic process Source: ProtInc
Nucleoside metabolic process Source: Ensembl
Purine ribonucleoside monophosphate biosynthetic process Source: Reactome
Response to inorganic substance Source: Ensembl
Tetrahydrofolate biosynthetic process Source: Ensembl
Cellular Location
Cytosol; Extracellular exosome; Plasma membrane; Membrane
Involvement in disease
AICAR transformylase/IMP cyclohydrolase deficiency (AICAR): 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.
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Anti-ATIC antibodies

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Mouse Anti-ATIC Recombinant Antibody (CBYC-A865) (CBMAB-A3964-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBYC-A865
Application*: WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (CBYC-A864) (CBMAB-A3963-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBYC-A864
Application*: WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (F38P7H9) (CBMAB-A3962-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Fruit fly, Rat, Frog
Clone: F38P7H9
Application*: FC, P, IP, WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (4A10) (CBMAB-A3961-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Dog
Clone: 4A10
Application*: WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (3H12-C9-H9) (CBMAB-A3960-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: 3H12-C9-H9
Application*: WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (2C10) (CBMAB-A3959-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Dog, Monkey
Clone: 2C10
Application*: WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (1D2) (CBMAB-A3958-YC)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Dog, Monkey
Clone: 1D2
Application*: FC, WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (CBT776) (V2LY-0625-LY3284)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Rabbit
Clone: CBT776
Application*: WB
Datasheet SDS

Mouse Anti-ATIC Recombinant Antibody (CBLQA-001) (CBMAB-2044CQ)

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Target: ATIC
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBLQA-001
Application*: IP, WB, IF, E, P
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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