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
379793952024SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway.1
379793952024SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway.1
375698732023SFPQ and Its Isoform as Potential Biomarker for Non-Small-Cell Lung Cancer.0
379607312023Splicing factor proline- and glutamine-rich regulates cytotoxic T lymphocytes-mediated cytotoxicity on non-small cell lung cancer by directly binding to PD-L1 3'UTR.0
375698732023SFPQ and Its Isoform as Potential Biomarker for Non-Small-Cell Lung Cancer.0
379607312023Splicing factor proline- and glutamine-rich regulates cytotoxic T lymphocytes-mediated cytotoxicity on non-small cell lung cancer by directly binding to PD-L1 3'UTR.0
358869742022Molecular Modelling of NONO and SFPQ Dimerization Process and RNA Recognition Mechanism.4
359983612022Insight into the Tumor Suppression Mechanism from the Structure of Human Polypyrimidine Splicing Factor (PSF/SFPQ) Complexed with a 30mer RNA from Murine Virus-like 30S Transcript-1.0
361688062022Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons.6
358869742022Molecular Modelling of NONO and SFPQ Dimerization Process and RNA Recognition Mechanism.4
359983612022Insight into the Tumor Suppression Mechanism from the Structure of Human Polypyrimidine Splicing Factor (PSF/SFPQ) Complexed with a 30mer RNA from Murine Virus-like 30S Transcript-1.0
361688062022Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons.6
332843222021Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival.27
334762592021The RNA-binding protein SFPQ preserves long-intron splicing and regulates circRNA biogenesis in mammals.42
334952782021SFPQ regulates the accumulation of RNA foci and dipeptide repeat proteins from the expanded repeat mutation in C9orf72.4

Citation

Jean-Loup Huret

SFPQ (PTB-associated splicing factor)

Atlas Genet Cytogenet Oncol Haematol. 1999-01-01

Online version: http://atlasgeneticsoncology.org/gene/167/gene-fusions-explorer/css/favicon/favicon-16x16.png