ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)

2001-08-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
ATIC
LOCATION
2q35
IMAGE
Atlas Image
LEGEND
ATIC (2p35) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
471
ALIAS
AICAR,AICARFT,HEL-S-70p,IMPCHASE,PURH
FUSION GENES
Show Gene Fusions

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
inv(2)(p23q35) --> ATIC- ALK
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) ).

Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 471
MIM: 601731
HGNC: 794
Ensembl: ENSG00000138363

Variants:

dbSNP: 471
ClinVar: 471
TCGA: ENSG00000138363
COSMIC: ATIC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138363ENST00000236959P31939
ENSG00000138363ENST00000236959V9HWH7
ENSG00000138363ENST00000413174C9JLK0
ENSG00000138363ENST00000426233H7C1S2
ENSG00000138363ENST00000427397F2Z3E8
ENSG00000138363ENST00000435675P31939
ENSG00000138363ENST00000443953F2Z3E8
ENSG00000138363ENST00000444305F8WEF0

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
One carbon pool by folateKEGGko00670
Purine metabolismKEGGhsa00230
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGhsa_M00048
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGM00048
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD15457444, 16947783, 18322994, 20847201, 25084201, 26799664, 27217051, 27676277, 27885916, 29520081
PA450428methotrexateChemicalClinicalAnnotationassociatedPD15457444, 16947783, 18322994, 20847201, 25084201, 26799664, 27217051, 27676277, 27885916, 29520081

References

Pubmed IDYearTitleCitations
380718322024A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.0
390019042024LncRNA ZFAS1 regulates ATIC transcription and promotes the proliferation and migration of hepatocellular carcinoma through the PI3K/AKT signaling pathway.0
380718322024A meta-analysis of the association between the ATIC 347 C/G polymorphism and methotrexate responsiveness and toxicity in rheumatoid arthritis.0
390019042024LncRNA ZFAS1 regulates ATIC transcription and promotes the proliferation and migration of hepatocellular carcinoma through the PI3K/AKT signaling pathway.0
365843302023Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.1
365843302023Promoter methylation levels of RASSF1 and ATIC genes are associated with lung cancer in Iranian patients.1
352053742022Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.2
355797722022CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF.2
352053742022Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.2
355797722022CircATIC Contributes to Multiple Myeloma Progression via miR-324-5p-Dependent Regulation of HGF.2
332261932021Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays.6
337780662021Identification and Validation of a Prognostic Model Based on Three Autophagy-Related Genes in Hepatocellular Carcinoma.3
337801522021Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients.2
332261932021Upregulation of ATIC in multiple myeloma tissues based on tissue microarray and gene microarrays.6
337780662021Identification 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/tumors-explorer/gene-fusions/case-report-explorer/