Serine/arginine-rich splicing factor 1

SRSF1 is a serine/arginine-rich splicing factor that regulates pre-mRNA splicing and alternative splicing patterns. It functions by binding purine-rich RNA sequences and interacting with spliceosomal components to bridge 5'- and 3'-splice sites, thereby preventing exon skipping and ensuring splicing accuracy. The protein may also participate in mRNA nuclear export via the TAP/NXF1 pathway (UniProt: Q07955).

SRSF1 is primarily involved in RNA processing and splicing regulation across tissues. UniProt documents an association with neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA, MIM 620489), an autosomal dominant condition marked by developmental delay, intellectual disability, speech delay, and hypotonia (UniProt: Q07955).

In Alzheimer's Disease, SRSF1 shows ambiguous regulation across subcellular fractions in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of −0.0474 (Chaparral AD proteomics). This minimal change across the two fractions analyzed suggests no consistent directional shift in SRSF1 abundance in AD neuropathology.