Atlas of Genetics and Cytogenetics in Oncology and Haematology
MLLT7 ( myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7)
| Identity |
| Other names | AFX1 (ALL1 fused gene from chromosome X, 1) |
| MLLT7 (myeloid/lymphoid leukemia translocated to, 7) | |
| AFX | |
| FOXO4 | |
| HGNC (Hugo) | FOXO4 |
| Location | Xq13 |
| Location_base_pair | Starts at 70232751 and ends at 70240109 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
| Transcription | 7,5kb consisting of 3 exons. RNA App. 3.5 kb mRNA; coding sequence. Placental secondary transcript: App. 2.8kb Expression pattern: Heavily expressed in skeletal muscle, placenta and ovary |
| Protein |
| Description | 504 amino acids; NH2 -- similarity region with AF6q21 and FHKR -- forkhead motif -- COOH |
| Expression | wide |
| Localisation | nuclear |
| Function | Transcription factor binding to the motive TTGTTTAC. Target genes: Akt, AFX is able to induce Rb-independent, p27kip1-mediated G1-arrest. Phosphorylation of AFX by protein kinase B inhibits its transcriptional activity. |
| Homology | daf-16 (C.elegans) and other forkhead-transcription factors (i.e. FKHR, FKHRL1, FKHRP1, FKHRL1P1) and AF6q21, involved in the t(6;11)(q21;q23). In the fusion protein AFX/MLL, AFX fuses to MLL in the same aminoacid as FHKR fuses to PAX3 in the PAX3/FKHR-fusion protein of alveolar rabdomyosarcoma. |
| Implicated in |
| Entity | t(X;11)(q13q23)/acute leukaemias --> MLL - AFX |
| Disease | ANLL, T-ALL |
| Prognosis | very poor |
| Hybrid/Mutated Gene | 5' MLL-3' AFX as well as the reciprocal 5' AFX-3' MLL on DNA and mRNA level |
| Abnormal Protein | comprises about 1400 amino acids from N-term MLL and 354 amino acids from AFX C-term; the reciprocal may be expressed |
| Breakpoints |
 | |
| External links |
| Bibliography |
| Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family. |
| Parry P, Wei Y, Evans G |
| Genes, chromosomes & cancer. 1994 ; 11 (2) : 79-84. |
| PMID 7529552 |
| Cloning and characterization of AFX, the gene that fuses to MLL in acute leukemias with a t(X;11)(q13;q23). |
| Borkhardt A, Repp R, Haas OA, Leis T, Harbott J, Kreuder J, Hammermann J, Henn T, Lampert F |
| Oncogene. 1997 ; 14 (2) : 195-202. |
| PMID 9010221 |
| AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. |
| Peters U, Haberhausen G, Kostrzewa M, Nolte D, Mˆºller U |
| Human genetics. 1997 ; 100 (5-6) : 569-572. |
| PMID 9341872 |
| Direct control of the Forkhead transcription factor AFX by protein kinase B. |
| Kops GJ, de Ruiter ND, De Vries-Smits AM, Powell DR, Bos JL, Burgering BM |
| Nature. 1999 ; 398 (6728) : 630-634. |
| PMID 10217147 |
| AFX-like Forkhead transcription factors mediate cell-cycle regulation by Ras and PKB through p27kip1. |
| Medema RH, Kops GJ, Bos JL, Burgering BM |
| Nature. 2000 ; 404 (6779) : 782-787. |
| PMID 10783894 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-1998 | Olivier Bernard |
| Updated | 08-2001 | Stig E. Bojesen |
| Citation |
| This paper should be referenced as such : |
| Bernard O . MLLT7 ( myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7). Atlas Genet Cytogenet Oncol Haematol. April 1998 . URL : http://AtlasGeneticsOncology.org/Genes/AFX1ID57.html |
| Bojesen SE . MLLT7 ( myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7). Atlas Genet Cytogenet Oncol Haematol. August 2001 . URL : http://AtlasGeneticsOncology.org/Genes/AFX1ID57.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:38:28 CEST 2009 |
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