Atlas of Genetics and Cytogenetics in Oncology and Haematology
(ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
| Identity |
| Other names | PURH |
| AICARFT/IMPCHASE (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase) | |
| AICARFT | |
| IMPCHASE | |
| HGNC (Hugo) | ATIC |
| LocusID (NCBI) | 471 |
| Location | 2q35 |
| Location_base_pair | Starts at 216176679 and ends at 216214496 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 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 08-2001 | Jean-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 |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37777/1/08-2001-ATICID227.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Apr 28 15:07:13 CEST 2012 |
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