TFPT (TCF3/E2A fusion partner)

2006-10-01   Enrica Privitera 

Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy

Identity

HGNC
LOCATION
19q13.42
IMAGE
Atlas 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.

Bibliography

Pubmed IDLast YearTitleAuthors
117000472001Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia.Brambillasca F et al
170417572006Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced.Franchini C et al
128413602003Arrest of cell cycle by amida which is phosphorylated by Cdc2 kinase.Gan Y et al
106447252000Molecular 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

Gene IDTranscript IDUniprot
ENSG00000105619ENST00000391757A8MTQ3
ENSG00000105619ENST00000391758P0C1Z6
ENSG00000105619ENST00000391759P0C1Z6
ENSG00000105619ENST00000391759A0A024R4Q5
ENSG00000105619ENST00000420715F8WDC1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
DNA Damage Recognition in GG-NERREACTOMER-HSA-5696394
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
236846072013A genetic screen identifies TCF3/E2A and TRIAP1 as pathway-specific regulators of the cellular response to p53 activation.28
227230172012Expression of PRPF31 and TFPT: regulation in health and retinal disease.7
170417572006Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced.3
173953682007FB1, an E2A fusion partner in childhood leukemia, interacts with U19/EAF2 and inhibits its transcriptional activity.3

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 

Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy