Splicing factor 1
Splicing factor 1 consists of a single polypeptide 75kDa needed for the formation of the first ATP-dependent spliceosomal complex in which alternate splicing results in multiple transcript variants. It is conserved pre-mRNA splicing factor implicated in 3’splice site recognition by binding directly to the intron branch site. It has extensive negatively charged helix A and an extra helix C in which all cDNAs recognized with a common N-terminal that holds two structural motifs involved in RNA binding yet vary in proline-rich region that has discrete C-terminal.
Splicing factor 1 is found in adrenal and periventricular region of the preoptic area and diencephalon. Phosphorylation of SF1 also occurs in culturedneuronal cells and is increased on Ser20 in response to cGMP analogue.
Splicing factor 1 gene mutation caused metabolic disorders like obesity and hypogonadism. Some study reveals that haploinsufficiency can selectively impair testicular development and permit the biosynthesis of testosterone in dysgenetic testes and the production of gonadotropins in pituitary gonadotropes.
Gene name: SF1
Protein name: Splicing factor 1