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).
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
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
+ Filters
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBYC-A865
Application*: WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBYC-A864
Application*: WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Fruit fly, Rat, Frog
Clone: F38P7H9
Application*: FC, P, IP, WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Dog
Clone: 4A10
Application*: WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: 3H12-C9-H9
Application*: WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Dog, Monkey
Clone: 2C10
Application*: WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Dog, Monkey
Clone: 1D2
Application*: FC, WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rabbit
Clone: 22G10
Application*: E, WB
Target: ATIC
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Rabbit
Clone: CBT776
Application*: WB
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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For Research Use Only. Not For Clinical Use.
(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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