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TFPT (TCF3/E2A fusion partner)

Identity

Other namesFB1
HGNC (Hugo) TFPT
LocusID (NCBI) 29844
Location 19q13.42
Location_base_pair Starts at 54610320 and ends at 54619055 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

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.

External links

Nomenclature
HGNC (Hugo)TFPT   13630
Cards
AtlasTFPTID495ch19q13
Entrez_Gene (NCBI)TFPT  29844  TCF3 (E2A) fusion partner (in childhood Leukemia)
GeneCards (Weizmann)TFPT
Ensembl (Hinxton)ENSG00000105619 [Gene_View]  chr19:54610320-54619055 [Contig_View]  TFPT [Vega]
AceView (NCBI)TFPT
Genatlas (Paris)TFPT
WikiGenes29844
SOURCE (Princeton)NM_013342
Genomic and cartography
GoldenPath (UCSC)TFPT  -  19q13.42   chr19:54610320-54619055 -  19q13   [Description]    (hg19-Feb_2009)
EnsemblTFPT - 19q13 [CytoView]
Mapping of homologs : NCBITFPT [Mapview]
OMIM609519   
Gene and transcription
Genbank (Entrez)AF052052 AK310627 AK310647 BC001728 BC004281
RefSeq transcript (Entrez)NM_013342
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NT_011109 NW_001838498 NW_003571054 NW_003571055 NW_003571056 NW_003571057 NW_003571058 NW_003571059 NW_003571060 NW_003571061 NW_004166865 NW_004929415
Consensus coding sequences : CCDS (NCBI)TFPT
Cluster EST : UnigeneHs.745267 [ NCBI ]
CGAP (NCI)Hs.745267
Alternative Splicing : Fast-db (Paris)GSHG0016100
Alternative Splicing GalleryENSG00000105619
Gene ExpressionTFPT [ NCBI-GEO ]     TFPT [ SEEK ]   TFPT [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C1Z6 (Uniprot)
NextProtP0C1Z6  [Medical]
With graphics : InterProP0C1Z6
Splice isoforms : SwissVarP0C1Z6 (Swissvar)
Related proteins : CluSTrP0C1Z6
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations29844
Blocks (Seattle)P0C1Z6
Human Protein AtlasENSG00000105619
Peptide AtlasP0C1Z6
HPRD10266
IPIIPI00063387   IPI00852611   IPI00853606   IPI00927736   
Protein Interaction databases
DIP (DOE-UCLA)P0C1Z6
IntAct (EBI)P0C1Z6
FunCoupENSG00000105619
BioGRIDTFPT
InParanoidP0C1Z6
Interologous Interaction database P0C1Z6
IntegromeDBTFPT
STRING (EMBL)TFPT
Ontologies - Pathways
Ontology : AmiGODNA binding  protein binding  nucleus  cytoplasm  actin filament  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-dependent  protein kinase binding  Ino80 complex  protein heterodimerization activity  apoptotic signaling pathway  
Ontology : EGO-EBIDNA binding  protein binding  nucleus  cytoplasm  actin filament  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-dependent  protein kinase binding  Ino80 complex  protein heterodimerization activity  apoptotic signaling pathway  
REACTOMETFPT
Protein Interaction DatabaseTFPT
Wikipedia pathwaysTFPT
Gene fusion - rearrangments
Rearrangement : TICdbTCF3 [19p13.3]  -  TFPT [19q13.42]
Rearrangement : TICdbTFPT [19q13.42]  -  TCF3 [19p13.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TFPT
SNP (GeneSNP Utah)TFPT
SNP : HGBaseTFPT
Genetic variants : HAPMAPTFPT
1000_GenomesTFPT 
ICGC programENSG00000105619 
Cancer Gene: CensusTFPT 
Somatic Mutations in Cancer : COSMICTFPT 
CONAN: Copy Number AnalysisTFPT 
Mutations and Diseases : HGMDTFPT
OMIM609519   
GENETestsTFPT
Disease Genetic AssociationTFPT
Huge Navigator TFPT [HugePedia]  TFPT [HugeCancerGEM]
Genomic VariantsTFPT  TFPT [DGVbeta]
Exome VariantTFPT
dbVarTFPT
ClinVarTFPT
snp3D : Map Gene to Disease29844
General knowledge
Homologs : HomoloGeneTFPT
Homology/Alignments : Family Browser (UCSC)TFPT
Phylogenetic Trees/Animal Genes : TreeFamTFPT
Chemical/Protein Interactions : CTD29844
Chemical/Pharm GKB GenePA37802
Clinical trialTFPT
Cancer Resource (Charite)ENSG00000105619
Other databases
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
CoreMineTFPT
iHOPTFPT

Bibliography

Identification of a novel molecular partner of the E2A gene in childhood leukemia.
Brambillasca F, Mosna G, Colombo M, Rivolta A, Caslini C, Minuzzo M, Giudici G, Mizzi L, Biondi A, Privitera E
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (3) : 369-375.
PMID 10086727
 
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
 
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
 
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.
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2005Enrica Privitera, Andrea Biondi
Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy
Updated10-2006Enrica Privitera
Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy

Citation

This paper should be referenced as such :
Privitera E, Biondi A . TFPT (TCF3/E2A fusion partner). Atlas Genet Cytogenet Oncol Haematol. January 2005 .
Privitera E . TFPT (TCF3/E2A fusion partner). Atlas Genet Cytogenet Oncol Haematol. October 2006 .
URL : http://AtlasGeneticsOncology.org/Genes/TFPTID495ch19q13.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38152/1/01-2005-TFPTID495ch19q13.pdf   [ Bibliographic record ]
http://documents.irevues.inist.fr/bitstream/2042/38379/1/10-2006-TFPTID495ch19q13.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:36:26 CEST 2014

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