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

Written2001-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesPURH
AICARFT/IMPCHASE (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
AICARFT
IMPCHASE
HGNC (Hugo) ATIC
LocusID (NCBI) 471
Atlas_Id 227
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 216176679 and ends at 216214496 bp from pter ( according to hg19-Feb_2009)  [Mapping ATIC.png]
 
  ATIC (2p35) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
ALK (2p23.2) / ATIC (2q35)ATIC (2q35) / ALK (2p23.2)ATIC (2q35) / ATIC (2q35)
ATIC (2q35) / NAB1 (2q32.2)EFNB2 (13q33.3) / ATIC (2q35)FAM117B (2q33.2) / ATIC (2q35)
PDCD11 (10q24.33) / ATIC (2q35)SNUPN (15q24.2) / ATIC (2q35)

DNA/RNA

Transcription 1776 bp mRNA; transcribed in a centromeric to telomeric orientation

Protein

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

Note
Entity inv(2)(p23q35) --> ATIC- ALK
Disease found in rare cases of ALK+ anaplasic large cell lymphoma
Cytogenetics hidden translocation most often
Hybrid/Mutated Gene 5' ATIC - 3' ALK
Abnormal 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

The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping.
Rayl EA, Moroson BA, Beardsley GP
The Journal of biological chemistry. 1996 ; 271 (4) : 2225-2233.
PMID 8567683
 
Characterization of molecularly cloned human 5-aminoimidazole-4-carboxamide ribonucleotide transformylase.
Sugita T, Aya H, Ueno M, Ishizuka T, Kawashima K
Journal of biochemistry. 1997 ; 122 (2) : 309-313.
PMID 9378707
 
Structure and functional relationships in human pur H.
Beardsley GP, Rayl EA, Gunn K, Moroson BA, Seow H, Anderson KS, Vergis J, Fleming K, Worland S, Condon B, Davies J
Advances in experimental medicine and biology. 1998 ; 431 : 221-226.
PMID 9598063
 
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, Bridge JA, Garicochea B, Liu J, Filippa DA, Ladanyi M
The American journal of pathology. 2000 ; 156 (3) : 781-789.
PMID 10702393
 
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, Cools J, Marynen P, Cui X, Siebert R, Gesk S, Schlegelberger B, Peeters B, De Wolf-Peeters C, Wlodarska I, Morris SW
Blood. 2000 ; 95 (6) : 2144-2149.
PMID 10706887
 
CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features.
Stein H, Foss HD, Dürkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B
Blood. 2000 ; 96 (12) : 3681-3695.
PMID 11090048
 
A new variant anaplastic lymphoma kinase (ALK)-fusion protein (ATIC-ALK) in a case of ALK-positive anaplastic large cell lymphoma.
Trinei M, Lanfrancone L, Campo E, Pulford K, Mason DY, Pelicci PG, Falini B
Cancer research. 2000 ; 60 (4) : 793-798.
PMID 10706082
 
Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas.
Drexler HG, Gignac SM, von Wasielewski R, Werner M, Dirks WG
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1533-1559.
PMID 10994999
 
Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma.
Morris SW, Xue L, Ma Z, Kinney MC
British journal of haematology. 2001 ; 113 (2) : 275-295.
PMID 11380391
 

Citation

This paper should be referenced as such :
Huret, JL
ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):254-255.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ATICID227.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Anaplastic large cell lymphoma (ALCL)
inv(2)(p23q35) ATIC/ALK

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft Tissues: Inflammatory myofibroblastic tumor
Soft tissue tumors: an overview

External links

Nomenclature
HGNC (Hugo)ATIC   794
Cards
AtlasATICID227
Entrez_Gene (NCBI)ATIC  471  5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
AliasesAICAR; AICARFT; HEL-S-70p; IMPCHASE; 
PURH
GeneCards (Weizmann)ATIC
Ensembl hg19 (Hinxton)ENSG00000138363 [Gene_View]  chr2:216176679-216214496 [Contig_View]  ATIC [Vega]
Ensembl hg38 (Hinxton)ENSG00000138363 [Gene_View]  chr2:216176679-216214496 [Contig_View]  ATIC [Vega]
ICGC DataPortalENSG00000138363
TCGA cBioPortalATIC
AceView (NCBI)ATIC
Genatlas (Paris)ATIC
WikiGenes471
SOURCE (Princeton)ATIC
Genomic and cartography
GoldenPath hg19 (UCSC)ATIC  -     chr2:216176679-216214496 +  2q35   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATIC  -     2q35   [Description]    (hg38-Dec_2013)
EnsemblATIC - 2q35 [CytoView hg19]  ATIC - 2q35 [CytoView hg38]
Mapping of homologs : NCBIATIC [Mapview hg19]  ATIC [Mapview hg38]
OMIM601731   608688   
Gene and transcription
Genbank (Entrez)AA494525 AB062403 AK290067 AK298142 AK313066
RefSeq transcript (Entrez)NM_004044
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_013002 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)ATIC
Cluster EST : UnigeneHs.90280 [ NCBI ]
CGAP (NCI)Hs.90280
Alternative Splicing GalleryENSG00000138363
Gene ExpressionATIC [ NCBI-GEO ]   ATIC [ EBI - ARRAY_EXPRESS ]   ATIC [ SEEK ]   ATIC [ MEM ]
Gene Expression Viewer (FireBrowse)ATIC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)471
GTEX Portal (Tissue expression)ATIC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31939 (Uniprot)
NextProtP31939  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31939
Splice isoforms : SwissVarP31939 (Swissvar)
Catalytic activity : Enzyme2.1.2.3 [ Enzyme-Expasy ]   2.1.2.32.1.2.3 [ IntEnz-EBI ]   2.1.2.3 [ BRENDA ]   2.1.2.3 [ KEGG ]   
PhosPhoSitePlusP31939
Domains : Interpro (EBI)AICAR_Tfase_dom    AICAR_Tfase_insert_dom    AICARFT_IMPCHas    Cytidine_deaminase-like    MGS-like_dom   
Domain families : Pfam (Sanger)AICARFT_IMPCHas (PF01808)    MGS (PF02142)   
Domain families : Pfam (NCBI)pfam01808    pfam02142   
Domain families : Smart (EMBL)AICARFT_IMPCHas (SM00798)  MGS (SM00851)  
DMDM Disease mutations471
Blocks (Seattle)ATIC
PDB (SRS)1P4R    1PKX    1PL0   
PDB (PDBSum)1P4R    1PKX    1PL0   
PDB (IMB)1P4R    1PKX    1PL0   
PDB (RSDB)1P4R    1PKX    1PL0   
Structural Biology KnowledgeBase1P4R    1PKX    1PL0   
SCOP (Structural Classification of Proteins)1P4R    1PKX    1PL0   
CATH (Classification of proteins structures)1P4R    1PKX    1PL0   
SuperfamilyP31939
Human Protein AtlasENSG00000138363
Peptide AtlasP31939
HPRD03434
IPIIPI00289499   IPI00926709   IPI00925253   IPI00925601   IPI00925871   IPI00926103   IPI00926426   IPI00927536   
Protein Interaction databases
DIP (DOE-UCLA)P31939
IntAct (EBI)P31939
FunCoupENSG00000138363
BioGRIDATIC
STRING (EMBL)ATIC
ZODIACATIC
Ontologies - Pathways
QuickGOP31939
Ontology : AmiGObrainstem development  IMP cyclohydrolase activity  phosphoribosylaminoimidazolecarboxamide formyltransferase activity  mitochondrion  cytosol  nucleobase-containing compound metabolic process  'de novo' IMP biosynthetic process  nucleoside metabolic process  purine ribonucleoside monophosphate biosynthetic process  response to inorganic substance  membrane  cerebellum development  cerebral cortex development  organ regeneration  protein homodimerization activity  dihydrofolate metabolic process  tetrahydrofolate biosynthetic process  extracellular exosome  
Ontology : EGO-EBIbrainstem development  IMP cyclohydrolase activity  phosphoribosylaminoimidazolecarboxamide formyltransferase activity  mitochondrion  cytosol  nucleobase-containing compound metabolic process  'de novo' IMP biosynthetic process  nucleoside metabolic process  purine ribonucleoside monophosphate biosynthetic process  response to inorganic substance  membrane  cerebellum development  cerebral cortex development  organ regeneration  protein homodimerization activity  dihydrofolate metabolic process  tetrahydrofolate biosynthetic process  extracellular exosome  
Pathways : KEGGPurine metabolism    One carbon pool by folate   
REACTOMEP31939 [protein]
REACTOME PathwaysR-HSA-73817 Purine ribonucleoside monophosphate biosynthesis [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkATIC
Wikipedia pathwaysATIC
Orthology - Evolution
OrthoDB471
GeneTree (enSembl)ENSG00000138363
Phylogenetic Trees/Animal Genes : TreeFamATIC
Homologs : HomoloGeneATIC
Homology/Alignments : Family Browser (UCSC)ATIC
Gene fusions - Rearrangements
Fusion : MitelmanATIC/ALK [2q35/2p23.2]  
Fusion : MitelmanFAM117B/ATIC [2q33.2/2q35]  [t(2;2)(q33;q35)]  
Fusion : COSMICATIC [2q35]  -  ALK [2p23.2]  [fusion_444]  [fusion_445]  [fusion_446]  
Fusion: TCGAFAM117B 2q33.2 ATIC 2q35 BRCA
Fusion : TICdbATIC [2q35]  -  ALK [2p23.2]
Polymorphisms : SNP, variants
NCBI Variation ViewerATIC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATIC
dbVarATIC
ClinVarATIC
1000_GenomesATIC 
Exome Variant ServerATIC
ExAC (Exome Aggregation Consortium)ATIC (select the gene name)
Genetic variants : HAPMAP471
Genomic Variants (DGV)ATIC [DGVbeta]
Mutations
ICGC Data PortalATIC 
TCGA Data PortalATIC 
Broad Tumor PortalATIC
OASIS PortalATIC [ Somatic mutations - Copy number]
Cancer Gene: CensusATIC 
Somatic Mutations in Cancer : COSMICATIC 
intOGen PortalATIC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATIC
DgiDB (Drug Gene Interaction Database)ATIC
DoCM (Curated mutations)ATIC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATIC (select a term)
intoGenATIC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:216176679-216214496  ENSG00000138363
CONAN: Copy Number AnalysisATIC 
Mutations and Diseases : HGMDATIC
OMIM601731    608688   
MedgenATIC
Genetic Testing Registry ATIC
NextProtP31939 [Medical]
TSGene471
GENETestsATIC
Huge Navigator ATIC [HugePedia]
snp3D : Map Gene to Disease471
BioCentury BCIQATIC
ClinGenATIC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD471
Chemical/Pharm GKB GenePA25094
Clinical trialATIC
Miscellaneous
canSAR (ICR)ATIC (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATIC
EVEXATIC
GoPubMedATIC
iHOPATIC
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 13:04:41 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.