| Written | 2005-01 | Enrica Privitera, Andrea Biondi |
| Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy | ||
| Updated | 2006-10 | Enrica Privitera |
| Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy |
| Identity |
| Other names | FB1 |
| HGNC (Hugo) | TFPT |
| LocusID (NCBI) | 29844 |
| Atlas_Id | 495 |
| Location | 19q13.42 [Link to chromosome band 19q13] |
| Location_base_pair | Starts at 54610320 and ends at 54619055 bp from pter ( according to hg19-Feb_2009) [Mapping TFPT.png] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| Fusion genes (updated 2016) | TCF3 (19p13.3) / TFPT (19q13.42) | TCF7L1 (2p11.2) / TFPT (19q13.42) | TFPT (19q13.42) / MAP3K13 (3q27.2) |
| TFPT (19q13.42) / TCF3 (19p13.3) | TFPT (19q13.42) / TCF7L1 (2p11.2) |
| DNA/RNA |
| Description | Genomic structure of six exons and five introns spanning about 10kb |
| Transcription | Two transcripts of 1.1kb and 1.2kb, expressed mainly in brain and in hemopoietic cell lines. The rat ortholog, Amida, was found highly expressed also in rat testis. TATA less promoter, that can be transactivated in vitro by PU.1 and Ikaros 2. Orientation, minus strand. |
| Protein |
| Description | Conserved protein of 253 amino acids (in man) with two nuclear localization signals (NLS) (n.68-75 and n.190-194) and a DNA binding domain located between the two NLSs. |
| Expression | constitutive |
| Localisation | nuclear |
| Function | Over expression of TFPT/Amida in cultured cells induces arrest in G2-M. Biochemical studies indicate that TFPT/Amida interacts with Cdc2/CDK1 in mitosis and its over expression results in a decrease of Cdc2/CDK1 activity. It is also suggested that the TFPT/Amida DNA binding activity is necessary for cell cycle inhibition and that Amida phophorylation by Cdc2/CDK1, detected in vitro, might decrease this DNA binding activity. Up-regulation of TFPT promotes caspase 9-dependent, p53-independent apoptosis. The pro-apoptotic role of TFPT appears modulated by interaction with specific factors, like Arc and Par-4, which might provide an explanation for the different susceptibility of different cell types to TFPT induced apoptosis. |
| Homology | Very high homology with mouse and rat orthologs. |
| Mutations |
| Somatic | Involved in chromosome rearrangement in leukaemia. |
| Implicated in |
| Note | |
| Entity | Childhood pre-B ALL |
| Note | We detected 8 cases out of 200 : incidence about 4% of childhood pre-B ALL |
| Cytogenetics | Following the position of the two involved genes, E2A on 19p13 and FB1 on 19q13 an inv(19)(p13q13) appears more likely but a translocation t(19;19)(p13;q13) cannot be yet ruled out. Still pending. |
| Hybrid/Mutated Gene | E2A-FB1 |
| Abnormal Protein | Since the chimeric transcripts so far analyzed contain the FB1 sequence fused out of frame to E2A and no truncated E2A protein was detected by Western blot, we suggest that no fusion protein is produced. |
| Breakpoints |
| Note | We detected different joining points in the transcripts of the different analyzed cases indicating different breakpoints in a genomic region spanning exons 15-17 on TCF3 and exons 5-6 on TFPT. |
| Bibliography |
| Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia. |
| Brambillasca F, Mosna G, Ballabio E, Biondi A, Boulukos KE, Privitera E |
| Biochemical and biophysical research communications. 2001 ; 288 (5) : 1250-1257. |
| PMID 11700047 |
| Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced. |
| Franchini C, Fontana F, Minuzzo M, Babbio F, Privitera E |
| Apoptosis : an international journal on programmed cell death. 2006 ; 11 (12) : 2217-2224. |
| PMID 17041757 |
| Arrest of cell cycle by amida which is phosphorylated by Cdc2 kinase. |
| Gan Y, Taira E, Irie Y, Fujimoto T, Miki N |
| Molecular and cellular biochemistry. 2003 ; 246 (1-2) : 179-185. |
| PMID 12841360 |
| Molecular cloning and characterization of Amida, a novel protein which interacts with a neuron-specific immediate early gene product arc, contains novel nuclear localization signals, and causes cell death in cultured cells. |
| Irie Y, Yamagata K, Gan Y, Miyamoto K, Do E, Kuo CH, Taira E, Miki N |
| The Journal of biological chemistry. 2000 ; 275 (4) : 2647-2653. |
| PMID 10644725 |
| Heterozygous targeted disruption of E2A gene by an Inv(19)(p13;q13). |
| Roettgers S, Brambillasca F, Giudici G, Harbott J, Privitera E, Biondi A |
| The American Society of Hematology. 1944. |
| Citation |
| This paper should be referenced as such : |
| Privitera, E |
| TFPT (TCF3/E2A fusion partner) |
| Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):23-24. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/TFPTID495ch19q13.html |
| History of this paper: |
| Privitera, E ; Biondi, A. TFPT (TCF3/E2A fusion partner). Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):19-20. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/38152/01-2005-TFPTID495ch19q13.pdf |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
inv(19)(p13q13) TCF3/TFPT;t(19;19)(p13;q13) TCF3/TFPT
|
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 19 19:33:09 CEST 2016 |
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