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

Identity

Other namesPURH
AICARFT/IMPCHASE (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
AICARFT
IMPCHASE
HGNC (Hugo) ATIC
Location 2q35
Location_base_pair Starts at 216176679 and ends at 216214499 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  ATIC (2p35) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

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

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) ).
  

External links

Nomenclature
HGNC (Hugo)ATIC   794
Entrez_Gene (NCBI)ATIC  471  5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Cards
AtlasATICID227
GeneCards (Weizmann)ATIC
Ensembl (Hinxton)ENSG00000138363 [Gene_View]  ATIC [Vega]
AceView (NCBI)ATIC
Genatlas (Paris)ATIC
euGene (Indiana)471
SOURCE (Stanford)NM_004044
Gene Expression (Array Express) ENSG00000138363
Genomic and cartography
GoldenPath (UCSC)ATIC  -  2q35   chr2:216176679-216214499 +  2q35   [Description]    (hg19-Feb_2009)
EnsemblATIC - 2q35 [CytoView]
Mapping of homologs : NCBIATIC [Mapview]
OMIM601731   608688   
Gene and transcription
Gene : Genbank (Entrez)AA494525 AB062403 AK290067 AK298142 AK313066
Reference sequence (RefSeq transcript) :SRSNM_004044
Reference transcript : EntrezNM_004044
RefSeq genomic : SRSAC_000045 AC_000134 NC_000002 NG_013002 NT_005403 NW_001838863 NW_921618
RefSeq genomic : EntrezAC_000045 AC_000134 NC_000002 NG_013002 NT_005403 NW_001838863 NW_921618
Consensus coding sequences : CCDS NCBIATIC
Cluster EST : UnigeneHs.90280 [ SRS ] Hs.90280 [ NCBI ]
Alternative Splicing : Fast-db (Paris)14937
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP31939 (SRS) P31939 (Expasy) P31939 (Uniprot)
With graphics : InterProP31939
Splice isoforms : VarSplice FASTAP31939(VarSplice FASTA)
Domains : Interpro (SRS)AICARFT_IMPCHas    AICARFT_IMPCHase_bienz    MGS   
Domains : Interpro (EBI)AICARFT_IMPCHas    AICARFT_IMPCHase_bienz    MGS   
Related proteins : CluSTrP31939
Domain families : Pfam SRSAICARFT_IMPCHas (PF01808)    MGS (PF02142)   
Domain families : Pfam SangerAICARFT_IMPCHas (PF01808)    MGS (PF02142)   
Domain families : Pfam NCBIpfam01808    pfam02142   
Domain families : Smart EMBLAICARFT_IMPCHas (SM00798)  MGS (SM00851)  
Blocks (Seattle)P31939
Crystal structure of protein : PDB SRS1P4R    1PKX    1PL0   
Crystal structure of protein : PDBSum1P4R    1PKX    1PL0   
Crystal structure of protein : IMB1P4R    1PKX    1PL0   
Crystal structure of protein : PDB RSDB1P4R    1PKX    1PL0   
Human Protein AtlasENSG00000138363
HPRD03434
Protein Interaction databases
DIP (DOE-UCLA)P31939
IntAct (EBI)P31939
FunCoupENSG00000138363
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIATIC
SNP : GeneSNP UtahATIC
SNP : HGBaseATIC
Genetic variants : HAPMAPATIC
Cancer Gene: CensusATIC 
Somatic Mutations in Cancer : COSMICATIC 
Translocation Breakpoints in Cancer : TICdbATIC 
Mutations and Diseases : HGMDATIC
Hereditary diseases : OMIM601731    608688   
Hereditary diseases : GENETests601731    608688   
Diseases : Genetic AssociationATIC
General knowledge
Homologs : HomoloGeneATIC
Homology/Alignments : Family Browser UCSCATIC
Phylogenetic Trees/Animal Genes : TreeFamATIC
Catalytic activity : Enzyme2.1.2.3 [ Enzyme-Expasy ]   2.1.2.3 [ Enzyme-SRS ]   2.1.2.3 [ IntEnz-EBI ]   2.1.2.3 [ BRENDA ]   2.1.2.3 [ KEGG ]   
Chemical/Protein Interactions : CTD471
Keywords Ontology : AmiGOIMP cyclohydrolase activity  phosphoribosylaminoimidazolecarboxamide formyltransferase activity  protein binding  nucleobase, nucleoside, nucleotide and nucleic acid metabolic process  purine nucleotide biosynthetic process  'de novo' IMP biosynthetic process  transferase activity  hydrolase activity  organ regeneration  protein homodimerization activity  
Keywords Ontology : EGO-EBIIMP cyclohydrolase activity  phosphoribosylaminoimidazolecarboxamide formyltransferase activity  protein binding  nucleobase, nucleoside, nucleotide and nucleic acid metabolic process  purine nucleotide biosynthetic process  'de novo' IMP biosynthetic process  transferase activity  hydrolase activity  organ regeneration  protein homodimerization activity  
Pathways : BIOCARTA
Pathways : KEGGOne carbon pool by folatePurine metabolism
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesATIC Related clones (RZPD - Berlin)
Literature
PubMed32 Pubmed reference(s) in Entrez
PubGeneATIC

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, Dˆºrkop 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
 
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Contributor(s)

Written08-2001Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Atlas Genet Cytogenet Oncol Haematol. August 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/ATICID227.html

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indexed on : Thu Jul 15 14:48:31 CEST 2010

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