SF1

Description

The SF1 (splicing factor 1) is a protein-coding gene located on chromosome 11.

SF1 is a human gene that encodes a type of helicase, a common protein.

SF1 is essential for the initial ATP-dependent step in spliceosome assembly. It binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' within the pre-mRNA. SF1 can also function as a transcription repressor.

SF1 is also known as BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162.

Associated Diseases

• ovarian cancer
• familial pancreatic carcinoma
• Lynch syndrome
• thyroid cancer, nonmedullary, 4
• familial atypical multiple mole melanoma syndrome
• endometrial cancer
• hyperplastic polyposis syndrome
• gastric adenocarcinoma and proximal polyposis of the stomach
• Muir-Torre syndrome
• 46,XY complete gonadal dysgenesis
• Li-Fraumeni syndrome