Human Gene TFPT (ENST00000391759.6_10) from GENCODE V47lift37
  Description: TCF3 fusion partner, transcript variant 1 (from RefSeq NM_013342.4)
Gencode Transcript: ENST00000391759.6_10
Gencode Gene: ENSG00000105619.14_13
Transcript (Including UTRs)
   Position: hg19 chr19:54,610,327-54,619,037 Size: 8,711 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr19:54,610,357-54,618,649 Size: 8,293 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,610,327-54,619,037)mRNA (may differ from genome)Protein (253 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TFPT_HUMAN
DESCRIPTION: RecName: Full=TCF3 fusion partner; AltName: Full=INO80 complex subunit F; AltName: Full=Protein FB1;
FUNCTION: Appears to promote apoptosis in a p53/TP53-independent manner.
FUNCTION: Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
SUBUNIT: Interacts with NOL3 (By similarity). Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80.
INTERACTION: Q96CJ1:EAF2; NbExp=4; IntAct=EBI-1245626, EBI-1245604; Q9Y5K5:UCHL5; NbExp=3; IntAct=EBI-1245626, EBI-1051183;
SUBCELLULAR LOCATION: Nucleus.
DISEASE: Note=A chromosomal aberration involving TFPT is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Inversion inv(19)(p13;q13) with TCF3.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TFPTID495ch19q13.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TFPT
Diseases sorted by gene-association score: childhood leukemia (19)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.26 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 882.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -144.90388-0.373 Picture PostScript Text
3' UTR 0.00300.000 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on P0C1Z6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding

Biological Process:
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0016579 protein deubiquitination
GO:0097190 apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0031011 Ino80 complex
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  BC001728 - Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia), mRNA (cDNA clone IMAGE:3354161), partial cds.
BC007776 - Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia), mRNA (cDNA clone MGC:12621 IMAGE:4301790), complete cds.
BC004281 - Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia), mRNA (cDNA clone MGC:10847 IMAGE:3616596), complete cds.
AF052052 - Homo sapiens fb1 mRNA, complete cds.
JD209389 - Sequence 190413 from Patent EP1572962.
KJ902513 - Synthetic construct Homo sapiens clone ccsbBroadEn_11907 TFPT gene, encodes complete protein.
HQ447224 - Synthetic construct Homo sapiens clone IMAGE:100070526; CCSB004255_01 TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT) gene, encodes complete protein.
KJ898733 - Synthetic construct Homo sapiens clone ccsbBroadEn_08127 TFPT gene, encodes complete protein.
AB464290 - Synthetic construct DNA, clone: pF1KB8224, Homo sapiens TFPT gene for TCF3 (E2A) fusion partner, without stop codon, in Flexi system.
CU678654 - Synthetic construct Homo sapiens gateway clone IMAGE:100018060 5' read TFPT mRNA.
AK310647 - Homo sapiens cDNA, FLJ17689.
AK310627 - Homo sapiens cDNA, FLJ17669.
JD031291 - Sequence 12315 from Patent EP1572962.
JD026517 - Sequence 7541 from Patent EP1572962.
JD141300 - Sequence 122324 from Patent EP1572962.
JD141299 - Sequence 122323 from Patent EP1572962.
JD448069 - Sequence 429093 from Patent EP1572962.
DQ591831 - Homo sapiens piRNA piR-58943, complete sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P0C1Z6 (Reactome details) participates in the following event(s):

R-HSA-5689544 UCHL5 binds INO80 complex
R-HSA-5689603 UCH proteinases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000391759.1, ENST00000391759.2, ENST00000391759.3, ENST00000391759.4, ENST00000391759.5, G5E9B5, INO80F, NM_013342, P0C1Z6, TFPT_HUMAN, uc318uov.1, uc318uov.2
UCSC ID: ENST00000391759.6_10
RefSeq Accession: NM_013342.4
Protein: P0C1Z6 (aka TFPT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.