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    ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [ Homo sapiens (human) ]

    Gene ID: 471, updated on 7-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.

    A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.
    Lee YH, Song GG.

    02/1/2024
    Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.

    Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.
    Mashayekhi M, Asadi M, Hashemzadeh S, Vahedi A, Shanehbandi D, Al-Omar AF, Akbari M, Raeisi M.

    07/7/2023
    CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF.

    CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF.
    Wu B, Wang F, Wang Y, Deng X, Wu W.

    11/5/2022
    Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

    Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.
    Cereja Pantoja KBC, Azevedo TCB, Carvalho DC, Monte N, Cohen Paes AN, Barros MCDC, Vinagre LWMS, Freitas ARS, Burbano RMR, Assumpção PP, Santos SEBD, Fernandes MR, Santos NPCD., Free PMC Article

    04/30/2022
    Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.

    Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.
    Singh A, Gangadharan H, Gupta V, Patro PS, Misra R, Aggarwal A.

    12/4/2021
    AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

    AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
    Ramond F, Rio M, Héron B, Imbard A, Marie S, Billiemaz K, Denommé-Pichon AS, Kuentz P, Ceballos I, Piraud M, Vincent MF, Touraine R.

    10/9/2021
    Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays.

    Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays.
    Li R, Chen G, Dang Y, He R, Liu A, Ma J, Wang C.

    06/19/2021
    Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma.

    Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma.
    Qin F, Zhang J, Gong J, Zhang W., Free PMC Article

    05/29/2021
    ATIC acts as an oncogenic gene that promotes survival, proliferation and migration by targeting AMPK-mTOR-S6 K1 signaling

    Bifunctional enzyme ATIC promotes propagation of hepatocellular carcinoma by regulating AMPK-mTOR-S6 K1 signaling.
    Li M, Jin C, Xu M, Zhou L, Li D, Yin Y., Free PMC Article

    10/6/2018
    The AICARFT site is capable of independently binding both nucleotide and folate substrates with high affinity however no evidence for positive cooperativity in binding could be detected using the model ligands employed in this study.

    Analysis of substrate binding in individual active sites of bifunctional human ATIC.
    Witkowska D, Cox HL, Hall TC, Wildsmith GC, Machin DC, Webb ME.

    04/21/2018
    Pediatric Osteosarcoma patients with ATIC 347C>G exhibited a good histologic response to chemotherapy

    ATIC Gene Polymorphism and Histologic Response to Chemotherapy in Pediatric Osteosarcoma.
    Park JA, Shin HY.

    09/23/2017
    The ATIC 347 C/G polymorphism may be associated with non-responsiveness to and or toxicity of methotrexate in Caucasian rheumatoid arthritis patients.

    Association of the ATIC 347 C/G polymorphism with responsiveness to and toxicity of methotrexate in rheumatoid arthritis: a meta-analysis.
    Lee YH, Bae SC.

    07/1/2017
    ATIC 347C>G gene polymorphism may be associated with the development of MTX induced gastrointestinal adverse events.

    ATIC 347C>G gene polymorphism may be associated with methotrexate-induced adverse events in south Indian Tamil rheumatoid arthritis.
    Muralidharan N, Mariaselvam CM, Jain VK, Gulati R, Negi VS.

    09/24/2016
    genotyping of ATIC rs2372536 and ITPA rs1127354 variants or measuring ITPA activity could be useful to predict methotrexate response in children with juvenile idiopathic arthritis.

    5-Aminoimidazole-4-carboxamide ribonucleotide-transformylase and inosine-triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis.
    Pastore S, Stocco G, Moressa V, Zandonà L, Favretto D, Malusà N, Decorti G, Lepore L, Ventura A.

    02/27/2016
    This study shows that polymorphisms on genes related to the metabolic pathway of pemetrexed, especially, ATIC and GGH genes, would have a therapeutic implication in pemetrexed-treated patients with lung adenocarcinoma

    Correlation of genetic polymorphisms with clinical outcomes in pemetrexed-treated advanced lung adenocarcinoma patients.
    Woo HI, Kim JA, Jung HA, Kim KK, Lee JY, Sun JM, Ahn JS, Park K, Lee SY, Ahn MJ.

    01/30/2016
    PTPLAD1 and AMPK are rapidly compartmentalized within the plasma membrane (PM) and Golgi/endosome fractions after insulin stimulation and that ATIC later accumulates in the Golgi/endosome fraction.

    The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network.
    Boutchueng-Djidjou M, Collard-Simard G, Fortier S, Hébert SS, Kelly I, Landry CR, Faure RL, Boutchueng-Djidjou M, Collard-Simard G, Fortier S, Hébert SS, Kelly I, Landry CR, Faure RL., Free PMC Articles: PMC4390253, PMC4390253

    12/26/2015
    Single nucleotide polymorphisms in ATIC gene is associated with acute graft-versus-host disease.

    Cyclosporine and methotrexate-related pharmacogenomic predictors of acute graft-versus-host disease.
    Laverdière I, Guillemette C, Tamouza R, Loiseau P, Peffault de Latour R, Robin M, Couture F, Filion A, Lalancette M, Tourancheau A, Charron D, Socié G, Lévesque É., Free PMC Article

    10/17/2015
    Our data show that ATIC is in complex with insulin receptor (IR)and siRNA-mediated partial knockdown of ATIC in HEK293 cells, decreases IR tyrosine phosphorylation and regulates IR endocytosis. Insulin stimulation and ATIC knockdown readily increase level of AMPK-Thr172 phosphorylation in IR complexes.ATIC depletion delayed insulin response of Glut2 translocation in HEK293 cells and decreased AKT-Ser473 phosphorylation.

    The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network.
    Boutchueng-Djidjou M, Collard-Simard G, Fortier S, Hébert SS, Kelly I, Landry CR, Faure RL, Boutchueng-Djidjou M, Collard-Simard G, Fortier S, Hébert SS, Kelly I, Landry CR, Faure RL., Free PMC Articles: PMC4390253, PMC4390253

    07/6/2015
    MTHFR, DHFR and ATIC genetic variants can be considered as pharmacogenetic markers of outcome in RA patients under MTX monotherapy.

    Polymorphisms in genes involved in the mechanism of action of methotrexate: are they associated with outcome in rheumatoid arthritis patients?
    Salazar J, Moya P, Altés A, Díaz-Torné C, Casademont J, Cerdà-Gabaroi D, Corominas H, Baiget M.

    04/4/2015
    study suggests that MTHFR C677T and ATIC T675C genotyping combined with clinicopathological data may help to identify patients whom will not benefit from MTX treatment and, therefore, assist clinicians in personalizing RA treatment

    Prediction of methotrexate clinical response in Portuguese rheumatoid arthritis patients: implication of MTHFR rs1801133 and ATIC rs4673993 polymorphisms.
    Lima A, Monteiro J, Bernardes M, Sousa H, Azevedo R, Seabra V, Medeiros R., Free PMC Article

    02/14/2015
    Results proved in cultured skin fibroblasts from patients with AICA-ribosiduria that various mutations of ATIC destabilize to various degrees purinosome assembly.

    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
    Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S.

    11/24/2012
    Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Gene-gene interactions in folate and adenosine biosynthesis pathways affect methotrexate efficacy and tolerability in rheumatoid arthritis.
    Dervieux T, Wessels JA, van der Straaten T, Penrod N, Moore JH, Guchelaar HJ, Kremer JM.

    12/2/2009
    ATIC associated with nucleophosmin-ALK, and its phosphorylation required ALK activity. ALK-mediated ATIC phosphorylation enhanced its enzymatic activity.

    The enzymatic activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase is enhanced by NPM-ALK: new insights in ALK-mediated pathogenesis and the treatment of ALCL.
    Boccalatte FE, Voena C, Riganti C, Bosia A, D'Amico L, Riera L, Cheng M, Ruggeri B, Jensen ON, Goss VL, Lee K, Nardone J, Rush J, Polakiewicz RD, Comb MJ, Chiarle R, Inghirami G., Free PMC Article

    01/21/2010
    Observational study of gene-disease association, pharmacogenomic / toxicogenomic, and genetic testing. (HuGE Navigator)

    A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis.
    Wessels JA, van der Kooij SM, le Cessie S, Kievit W, Barerra P, Allaart CF, Huizinga TW, Guchelaar HJ, Pharmacogenetics Collaborative Research Group.

    03/13/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (6) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC.

    Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.
    Hazra A, Fuchs CS, Kawasaki T, Kirkner GJ, Hunter DJ, Ogino S.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
    Franke B, Vermeulen SH, Steegers-Theunissen RP, Coenen MJ, Schijvenaars MM, Scheffer H, den Heijer M, Blom HJ.

    Associations of common polymorphisms in the thymidylate synthase, reduced folate carrier and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase genes with folate and homocysteine levels and venous thrombosis risk.
    Gellekink H, Blom HJ, den Heijer M.

    03/13/2008
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