DISEASES

Disease-gene associations mined from literature

Literature associating U2AF1 and nervous system disease

U2AF1 [ENSP00000291552]

Splicing factor U2AF 35 kDa subunit; Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.

Synonyms:  U2AF1,  U2AF1p,  hU2AF1,  A0A1B0GW87,  Q01081 ...

Linkouts:  STRING  Pharos  UniProt  OMIM