SFPQ (PTB-associated splicing factor)
1999-01-01 Jean-Loup Huret AffiliationGenetics, 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
Transcription
alternative splicing; 3 kb mRNA complete cds; coding sequence: CDS 86..2209
Proteins
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
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
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9393982 | 1997 | Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. | Clark J et al |
| 8045264 | 1994 | A 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 |
| 9756848 | 1998 | The 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116560 | ENST00000357214 | P23246 |
| ENSG00000116560 | ENST00000357214 | A0A384N5Z8 |
| ENSG00000116560 | ENST00000460428 | H0Y9U2 |
| ENSG00000116560 | ENST00000470472 | H0Y9K7 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by PTK6 | REACTOME | R-HSA-8848021 |
| PTK6 Regulates Proteins Involved in RNA Processing | REACTOME | R-HSA-8849468 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37979395 | 2024 | SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway. | 1 |
| 37979395 | 2024 | SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway. | 1 |
| 37569873 | 2023 | SFPQ and Its Isoform as Potential Biomarker for Non-Small-Cell Lung Cancer. | 0 |
| 37960731 | 2023 | Splicing 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 |
| 37569873 | 2023 | SFPQ and Its Isoform as Potential Biomarker for Non-Small-Cell Lung Cancer. | 0 |
| 37960731 | 2023 | Splicing 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 |
| 35886974 | 2022 | Molecular Modelling of NONO and SFPQ Dimerization Process and RNA Recognition Mechanism. | 4 |
| 35998361 | 2022 | Insight 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 |
| 36168806 | 2022 | Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons. | 6 |
| 35886974 | 2022 | Molecular Modelling of NONO and SFPQ Dimerization Process and RNA Recognition Mechanism. | 4 |
| 35998361 | 2022 | Insight 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 |
| 36168806 | 2022 | Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons. | 6 |
| 33284322 | 2021 | Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival. | 27 |
| 33476259 | 2021 | The RNA-binding protein SFPQ preserves long-intron splicing and regulates circRNA biogenesis in mammals. | 42 |
| 33495278 | 2021 | SFPQ 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
