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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TFPT
TCF3 fusion partner
Chromosome 19 · 19q13.42
NCBI Gene: 29844Ensembl: ENSG00000105619.15HGNC: HGNC:13630UniProt: P0C1Z6
45PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairOncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionregulation of cell cycleIno80 complexregulation of DNA replication
✦AI Summary

TFPT (TCF3 fusion partner) is a putative regulatory component of the INO80 chr19 remodeling complex involved in transcriptional regulation, DNA replication, and DNA repair 1. The gene encodes a highly conserved protein across mammalian species 2 and is regulated by hematopoietic transcription factors including PU.1 and Ikaros 2, suggesting a role in hematopoiesis 2. TFPT promotes caspase 9-dependent apoptosis in a p53-independent manner, though this apoptotic response is cell-type restricted and influenced by cell density and proliferation conditions 3. SUMOylation of TFPT is critical for its interaction with INO80E within the INO80 complex 1. Clinically, TFPT gained prominence through its identification as a fusion partner of TCF3 in childhood pre-B acute lymphoblastic leukemia 2, implicating it in leukemogenesis. Additionally, TFPT shares regulatory elements with PRPF31 in a head-to-head chr19 arrangement at 19q13.4; differential TFPT expression may influence PRPF31-associated retinitis pigmentosa penetrance 45. Despite these functional associations, TFPT's specific molecular role remains incompletely characterized.

Sources cited
1
TFPT is a subunit of the INO80 chromatin remodeling complex and a SUMO substrate whose SUMOylation mediates interaction with INO80E
PMID: 28254775
2
TFPT is a molecular fusion partner of TCF3 in childhood pre-B ALL and is conserved across mammalian species; its promoter is responsive to hematopoietic factors PU.1 and Ikaros 2
PMID: 11700047
3
TFPT overexpression promotes caspase 9-dependent, p53-independent apoptosis that is cell-type restricted and density-influenced
PMID: 17041757
4
TFPT has a role in cellular apoptosis and shares regulatory elements with PRPF31 in a head-to-head gene arrangement at chromosome 19q13.4
PMID: 22723017
5
TFPT core promoter is conserved between human and primate but shows species-specific regulatory differences affecting PRPF31 expression variation
PMID: 25729402
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTR5Protein interaction100%MCRS1Protein interaction97%BRD8Protein interaction97%PRPF31Protein interaction96%ACTL6AProtein interaction96%KAT5Protein interaction94%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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TFPTACTR5MCRS1BRD8PRPF31ACTL6AKAT5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P0C1Z6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.68–1.27]
RankingsWhere TFPT stands among ~20K protein-coding genes
  • #9,532of 20,598
    Most Researched45
  • #13,368of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedTFPT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The effectiveness and tolerability of trauma-focused psychotherapies for psychotic symptoms: A systematic review of trauma-focused psychotherapies.
PMID: 38441953
Int J Methods Psychiatr Res · 2024
1.00
2
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
PMID: 22723017
Hum Mol Genet · 2012
0.90
3
Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia.
PMID: 11700047
Biochem Biophys Res Commun · 2001
0.80
4
Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced.
PMID: 17041757
Apoptosis · 2006
0.70
5
A Study into the Evolutionary Divergence of the Core Promoter Elements of
PMID: 25729402
J Mol Genet Med · 2013
0.60