DISEASES

Disease-gene associations mined from literature

Literature on SF3B3

SF3B3 [ENSP00000305790]

Splicing factor 3B subunit 3; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome (PubMed:10490618, PubMed:10882114, 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 . 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 . ECO:0000269|PubMed:10882114, ECO:0000269|PubMed:12234937, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643,

Synonyms:  SF3B3,  SF3B3p,  hSF3B3,  H3BMB0,  I3L4G7 ...

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