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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

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

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

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

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

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

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

Mouse Anti-ATIC Recombinant Antibody (
22G10) (V2LY-0725-LY267)

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Target: ATIC

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human, Rabbit

Clone: 22G10

Application*: E, WB

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

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

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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
IGImmunochromatography
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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