DISEASES

Disease-gene associations mined from literature

Literature on SF1

SF1 [ENSP00000366604]

Mammalian branch point-binding protein; Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor; Spliceosomal A complex

Synonyms:  SF1,  SF1p,  hSF1,  A0A024R566,  A0A024R572 ...

Linkouts:  STRING  Pharos  UniProt  OMIM