Atlas of Genetics and Cytogenetics in Oncology and Haematology
SFPQ (PTB-associated splicing factor)
| Identity |
| Other names | PSF (PTB-associated splicing factor) |
| SFPQ (splicing factor proline/glutamine rich) | |
| HGNC (Hugo) | SFPQ |
| LocusID (NCBI) | 6421 |
| Location | 1p34 |
| Location_base_pair | Starts at 35649201 and ends at 35658743 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| Transcription | alternative splicing; 3 kb mRNA complete cds; coding sequence: CDS 86..2209 |
| Protein |
 | |
| 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 | 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/Mutated Gene | 5' PSF- 3' TFE3 |
| Abnormal 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. |
| External links |
| Bibliography |
| 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, Patton JG, Reed R |
| The EMBO journal. 1994 ; 13 (14) : 3356-3367. |
| PMID 8045264 |
| Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. |
| Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D, Hamoudi R, Linehan WM, Shipley J, Cooper CS |
| Oncogene. 1997 ; 15 (18) : 2233-2239. |
| PMID 9393982 |
| The RNA-splicing factor PSF/p54 controls DNA-topoisomerase I activity by a direct interaction. |
| Straub T, Grue P, Uhse A, Lisby M, Knudsen BR, Tange TO, Westergaard O, Boege F |
| The Journal of biological chemistry. 1998 ; 273 (41) : 26261-26264. |
| PMID 9756848 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 01-1999 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . SFPQ (PTB-associated splicing factor). Atlas Genet Cytogenet Oncol Haematol. January 1999 . URL : http://AtlasGeneticsOncology.org/Genes/PSFID167.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37501/1/01-1999-PSFID167.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Apr 28 15:02:46 CEST 2012 |
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