TFPT (TCF3/E2A fusion partner)
2006-10-01 Enrica Privitera AffiliationDipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy
Identity
HGNC
LOCATION
19q13.42
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
FB1,INO80F,amida
FUSION GENES
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.
Proteins
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
Entity name
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 gene
E2A-FB1
Fusion 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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11700047 | 2001 | Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia. | Brambillasca F et al |
| 17041757 | 2006 | Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced. | Franchini C et al |
| 12841360 | 2003 | Arrest of cell cycle by amida which is phosphorylated by Cdc2 kinase. | Gan Y et al |
| 10644725 | 2000 | 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 et al |
Other Information
Locus ID:
NCBI: 29844
MIM: 609519
HGNC: 13630
Ensembl: ENSG00000105619
Variants:
dbSNP: 29844
ClinVar: 29844
TCGA: ENSG00000105619
COSMIC: TFPT
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 23684607 | 2013 | A genetic screen identifies TCF3/E2A and TRIAP1 as pathway-specific regulators of the cellular response to p53 activation. | 44 |
| 23684607 | 2013 | A genetic screen identifies TCF3/E2A and TRIAP1 as pathway-specific regulators of the cellular response to p53 activation. | 44 |
| 22723017 | 2012 | Expression of PRPF31 and TFPT: regulation in health and retinal disease. | 12 |
| 22723017 | 2012 | Expression of PRPF31 and TFPT: regulation in health and retinal disease. | 12 |
| 17395368 | 2007 | FB1, an E2A fusion partner in childhood leukemia, interacts with U19/EAF2 and inhibits its transcriptional activity. | 4 |
| 17395368 | 2007 | FB1, an E2A fusion partner in childhood leukemia, interacts with U19/EAF2 and inhibits its transcriptional activity. | 4 |
| 17041757 | 2006 | Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced. | 6 |
| 17041757 | 2006 | Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced. | 6 |
Citation
Enrica Privitera
TFPT (TCF3/E2A fusion partner)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/495/tfpt-(tcf3-e2a-fusion-partner)
Historical Card
2005-01-01 TFPT (TCF3/E2A fusion partner) by Enrica Privitera,Andrea Biondi Affiliation
Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy
