ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
2001-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
2q35
IMAGE
LEGEND
ATIC (2p35) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
AICAR,AICARFT,HEL-S-70p,IMPCHASE,PURH
FUSION GENES
DNA/RNA
Transcription
1776 bp mRNA; transcribed in a centromeric to telomeric orientation
Proteins
Description
591 amino acids, 64 kDa; two functional domains separated by a linker region with a dimerization domain (amino acids 170 to 199): amino acids 1 to 169 encode the IMP cyclohydrolase (IMPCH) function, and amino acids 200 to 591 encode the 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICARFT) function; homodimer
Expression
wide
Function
bifunctional purine biosythesis:9th and 10th step of the de novo purine synthesis
Homology
belongs to the PURH family
Implicated in
Entity name
Disease
found in rare cases of ALK+ anaplasic large cell lymphoma
Cytogenetics
hidden translocation most often
Hybrid gene
5 ATIC - 3 ALK
Fusion protein
791 amino acids, 87 kDa. 229 N-term amino acid from ATIC containing the IMPCH domain and the dimerization domain fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); cytoplasmic localisation only.
Oncogenesis
ATIC seems to provoke the dimerization of ATIC-ALK, which should lead to constitutive autophosphorylation and activation of the ALK tyrosine kinase, as for NPM1-ALK (see t(2;5)(p23;q35) ).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9598063 | 1998 | Structure and functional relationships in human pur H. | Beardsley GP et al |
| 10702393 | 2000 | ATIC-ALK: A novel variant ALK gene fusion in anaplastic large cell lymphoma resulting from the recurrent cryptic chromosomal inversion, inv(2)(p23q35). | Colleoni GW et al |
| 10994999 | 2000 | Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas. | Drexler HG et al |
| 10706887 | 2000 | Inv(2)(p23q35) in anaplastic large-cell lymphoma induces constitutive anaplastic lymphoma kinase (ALK) tyrosine kinase activation by fusion to ATIC, an enzyme involved in purine nucleotide biosynthesis. | Ma Z et al |
| 11380391 | 2001 | Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma. | Morris SW et al |
| 8567683 | 1996 | The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping. | Rayl EA et al |
| 11090048 | 2000 | CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features. | Stein H et al |
| 9378707 | 1997 | Characterization of molecularly cloned human 5-aminoimidazole-4-carboxamide ribonucleotide transformylase. | Sugita T et al |
| 10706082 | 2000 | A new variant anaplastic lymphoma kinase (ALK)-fusion protein (ATIC-ALK) in a case of ALK-positive anaplastic large cell lymphoma. | Trinei M et al |
Other Information
Locus ID:
NCBI: 471
MIM: 601731
HGNC: 794
Ensembl: ENSG00000138363
Variants:
dbSNP: 471
ClinVar: 471
TCGA: ENSG00000138363
COSMIC: ATIC
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443434 | Arthritis, Rheumatoid | Disease | ClinicalAnnotation | associated | PD | 15457444, 16947783, 18322994, 20847201, 25084201, 26799664, 27217051, 27676277, 27885916, 29520081 | |
| PA450428 | methotrexate | Chemical | ClinicalAnnotation | associated | PD | 15457444, 16947783, 18322994, 20847201, 25084201, 26799664, 27217051, 27676277, 27885916, 29520081 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38071832 | 2024 | A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis. | 0 |
| 39001904 | 2024 | LncRNA ZFAS1 regulates ATIC transcription and promotes the proliferation and migration of hepatocellular carcinoma through the PI3K/AKT signaling pathway. | 0 |
| 38071832 | 2024 | A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis. | 0 |
| 39001904 | 2024 | LncRNA ZFAS1 regulates ATIC transcription and promotes the proliferation and migration of hepatocellular carcinoma through the PI3K/AKT signaling pathway. | 0 |
| 36584330 | 2023 | Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients. | 1 |
| 36584330 | 2023 | Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients. | 1 |
| 35205374 | 2022 | Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia. | 2 |
| 35579772 | 2022 | CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF. | 2 |
| 35205374 | 2022 | Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia. | 2 |
| 35579772 | 2022 | CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF. | 2 |
| 33226193 | 2021 | Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays. | 6 |
| 33778066 | 2021 | Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma. | 3 |
| 33780152 | 2021 | Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients. | 2 |
| 33226193 | 2021 | Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays. | 6 |
| 33778066 | 2021 | Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma. | 3 |
Citation
Jean-Loup Huret
ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
Atlas Genet Cytogenet Oncol Haematol. 2001-08-01
Online version: http://atlasgeneticsoncology.org/gene/227/atic
