DISEASES

Disease-gene associations mined from literature

Literature on SF3B6

SF3B6 [ENSP00000233468]

Splicing factor 3B subunit 6; 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 . Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing . Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively . ; Belongs to the SF3B6 family.

Synonyms:  SF3B6,  SF3B6p,  hSF3B6,  Q9Y3B4,  Q9Y3B4p ...

Linkouts:  STRING  Pharos  UniProt