DISEASES

Disease-gene associations mined from literature

Literature associating SRSF1 and spinocerebellar ataxia type 31

SRSF1 [ENSP00000258962]

pre-mRNA-splicing factor SF2, P33 subunit; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'- CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway; Belongs to the splicing factor SR family.

Synonyms:  SRSF1,  SRSF1p,  hSRSF1,  J3KSW7,  J3KTL2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM