Disease-gene associations mined from literature

Literature associating SF3B1 and uveal melanoma

SF3B1 [ENSP00000335321]

Pre-mRNA-splicing factor SF3b 155 kDa subunit; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. 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. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron; Armadillo-like helical domain containing

Synonyms:  SF3B1,  SF3B1p,  hSF3B1,  B4DGZ4,  DKFZP434M052 ...

Linkouts:  STRING  Pharos  UniProt  OMIM