DISEASES

Disease-gene associations mined from literature

Literature associating SF3B5 and retinitis pigmentosa 24

SF3B5 [ENSP00000356541]

Splicing factor 3B subunit 5; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome (PubMed:27720643, PubMed:28781166). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA .

Synonyms:  SF3B5,  SF3B5p,  hSF3B5,  Q9BWJ5,  Q9BWJ5p ...

Linkouts:  STRING  Pharos  UniProt