SFPQ (PTB-associated splicing factor)

1999-01-01   Jean-Loup Huret 

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

Identity

HGNC
LOCATION
1p34.3
LOCUSID
ALIAS
POMP100,PPP1R140,PSF
FUSION GENES

DNA/RNA

Atlas Image

Transcription

alternative splicing; 3 kb mRNA complete cds; coding sequence: CDS 86..2209

Proteins

Atlas Image

Description

707-712 amino acids; 76 kDa; N-term proline/glutamine rich domain, a prolin rich region, 2 tandem RNA binding domains, and C-term.

Localisation

nucleus

Function

splicing factor required early in spliceosome formation; form a complex with the polypyrimidine tract binding protein (PTB, herein the name); involved in pre-m RNA splicing step 2 (step 1: cut after exon n, intron n is still joined to exon n+1; step 2: cut between intron n and exon n+1, join exons n and n+1); forms a heterodimer with p54nrb (nuclear RNA binbing) a protein sharing vast homologies, encoded by NONO; both form complexes with DNA topoisomerase I, which renders this enzyme much more active.

Homology

with the above mentioned NONE product and with other proteins with a DBHS domain (Drosophila behaviour, human splicing) which includes the tandem RNA binding domains.

Implicated in

Entity name
t(X;1)(p11.2;p34) in renal cell carcinoma --> PSF/TFE3
Disease
t(X;1)(p11.2;p34) has only been found in a handfull cases of papillary renal cell carcinoma
Hybrid gene
5 PSF- 3 TFE3
Atlas Image
Fusion protein
N-term PSF and most of it fused to the DNA binding domains of TFE3 (excluding the acidic transcriptional activation domain, including the C-term helix-loop-helix, and the leucine zipper); no TFE3-PSF reciprocal transcript, as the der(X) t(X;1) is missing; the normal TFE3 transcript is found.

Bibliography

Pubmed IDLast YearTitleAuthors
93939821997Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.Clark J et al
80452641994A novel set of spliceosome-associated proteins and the essential splicing factor PSF bind stably to pre-mRNA prior to catalytic step II of the splicing reaction.Gozani O et al
97568481998The RNA-splicing factor PSF/p54 controls DNA-topoisomerase I activity by a direct interaction.Straub T et al

Other Information

Locus ID:

NCBI: 6421
MIM: 605199
HGNC: 10774
Ensembl: ENSG00000116560

Variants:

dbSNP: 6421
ClinVar: 6421
TCGA: ENSG00000116560
COSMIC: SFPQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116560ENST00000357214P23246
ENSG00000116560ENST00000357214A0A384N5Z8
ENSG00000116560ENST00000460428H0Y9U2
ENSG00000116560ENST00000470472H0Y9K7

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 Regulates Proteins Involved in RNA ProcessingREACTOMER-HSA-8849468

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245077152014Long noncoding RNA NEAT1-dependent SFPQ relocation from promoter region to paraspeckle mediates IL8 expression upon immune stimuli.207
124172962002PSF and p54(nrb)/NonO--multi-functional nuclear proteins.144
250259662014Long non-coding RNA MALAT1 promotes tumour growth and metastasis in colorectal cancer through binding to SFPQ and releasing oncogene PTBP2 from SFPQ/PTBP2 complex.142
176390832007The multifunctional protein p54nrb/PSF recruits the exonuclease XRN2 to facilitate pre-mRNA 3' processing and transcription termination.102
204217352010Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response.78
129444872003PSF acts through the human immunodeficiency virus type 1 mRNA instability elements to regulate virus expression.68
167315282006DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor.65
160248072005Role for PSF in mediating transcriptional activator-dependent stimulation of pre-mRNA processing in vivo.57
124034702002PSF and p54nrb bind a conserved stem in U5 snRNA.54
155906772005Identification of the polypyrimidine tract binding protein-associated splicing factor.p54(nrb) complex as a candidate DNA double-strand break rejoining factor.52

Citation

Jean-Loup Huret

SFPQ (PTB-associated splicing factor)

Atlas Genet Cytogenet Oncol Haematol. 1999-01-01

Online version: http://atlasgeneticsoncology.org/gene/167/sfpq