TAF15 (TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa)

2000-09-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
17q12
LOCUSID
ALIAS
Npl3,RBP56,TAF2N,TAFII68
FUSION GENES

DNA/RNA

Description

spans 37kb; 16 exons

Transcription

2.2 bp mRNA; alternative splicing: two isoforms of cDNAs consisting of 2144 and 2153 bp; coding sequence 1778 bp

Proteins

Description

589 and 592 amino acid, 62 kDa ; comprises a N-term ser, tyr, gln, gly -rich region, followed by a an RNA binding domain and a Cys2/Cys2 finger motif, and repeats in C-term

Expression

wide; in the fetus and in the adult

Localisation

nuclear

Function

single strand DNA/RNA binding protein; part of theTFIID and RNA polymerase II complex of proteins which assemble on the promoter to form a pre-initiation complex (PIC); TFIID is composed of a TATA-box-binding protein (TBP) and a number of TBP-associated factors (TAFIIS); contribute to the activation of transcription

Homology

with EWSR1 and FUS

Mutations

Somatic

overexpression of TAF2N- FLI-1 chimeras in NIH3T3 cells leads to oncogenic transformation

Implicated in

Disease
a rare tumour: 2.3% of soft tissue sarcomas often localized in deep soft tissues of the lower extremities

Breakpoints

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
106375111999The N-terminal domain of human TAFII68 displays transactivation and oncogenic properties.Bertolotti A et al
106645842000TBP-associated factors (TAFIIs): multiple, selective transcriptional mediators in common complexes.Green MR et al
97952131998Genomic structure of the human RBP56/hTAFII68 and FUS/TLS genes.Morohoshi F et al
106025191999Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).Panagopoulos I et al
79357651994Yeast TAFIIS in a multisubunit complex required for activated transcription.Reese JC et al
105372741999Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.Sjögren H et al

Other Information

Locus ID:

NCBI: 8148
MIM: 601574
HGNC: 11547
Ensembl: ENSG00000270647

Variants:

dbSNP: 8148
ClinVar: 8148
TCGA: ENSG00000270647
COSMIC: TAF15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000270647ENST00000603393A0A075B7E4
ENSG00000270647ENST00000603427A0A075B7D6
ENSG00000270647ENST00000603777A0A075B7D9
ENSG00000270647ENST00000603967A0A075B7C1
ENSG00000270647ENST00000604694A0A075B7F4
ENSG00000270647ENST00000604841Q92804
ENSG00000270647ENST00000604879A0A075B7F2
ENSG00000270647ENST00000605844Q92804

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Basal transcription factorsKEGGhsa03022
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
220657822011A yeast functional screen predicts new candidate ALS disease genes.185
240553472013Proteome-wide identification of poly(ADP-Ribosyl)ation targets in different genotoxic stress responses.120
186205642008The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response.118
218567232011FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.104
214381372011Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
273783742016Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses.39
123597452002Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.37
191240162009PRMT1 mediated methylation of TAF15 is required for its positive gene regulatory function.31
274159682016Role of FET proteins in neurodegenerative disorders.21

Citation

Jean-Loup Huret

TAF15 (TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa)

Atlas Genet Cytogenet Oncol Haematol. 2000-09-01

Online version: http://atlasgeneticsoncology.org/gene/256/taf15