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
