Poly(U)-binding-splicing factor 60 (PUF60)

Poly(U)-binding-splicing factor 60 (PUF60) is an RNA- and DNA-binding protein involved in pre-mRNA splicing and transcriptional regulation[1][3][4][7]. It contains two RNA recognition motifs and a U2AF homology motif, bearing structural similarity to U2AF65 but lacking its N-terminal RS domain[3]. PUF60 promotes or modulates splicing at weak 3' splice sites, plays roles in alternative splicing, and represses transcription of the MYC oncogene by forming a complex with FUSE and FUSE-binding protein[1][5][7]. Functionally, it cooperates with other splicing factors, especially U2AF2, and impacts the processing of key transcripts in both physiological and disease states such as cancer and developmental syndromes (e.g., Verheij syndrome)[1][3][5][7]. PUF60 also acts as a regulator of transcription and post-transcriptional processes during hepatitis B virus replication[5]. Loss-of-function mutations in PUF60 cause multisystem developmental disorders and intellectual disability[7]. No approved or investigational drugs are known to directly target PUF60 as of this writing, and it is not a standard therapeutic target, but is implicated in the molecular pathology of human diseases and may serve as a biomarker for diagnostic or research purposes[7].

Other names

Poly(U)-binding-splicing factor PUF60FIRFBP-interacting repressorRoBP1Siah-BP1RoBPISIAHBP1Ro-binding protein 1Siah-binding protein 1FUSE-binding protein-interacting repressorpyrimidine tract binding splicing factorRo ribonucleoprotein binding protein 1VRJSpoly(U)-binding-splicing factor 60 kDapoly(U) binding splicing factor 60KDa

Modulation of alternative and constitutive splicing; Regulation of gene transcription (e.g., MYC repression, interaction with FUSE-binding protein); Cooperates with U2AF2 (U2AF65) in splicing site recognition