serine and arginine rich splicing factor 1
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Diagnostic Grade (Green)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownneurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Neurodevelopmental delay
Intellectual disability
neurodegenerative disease
hereditary disease
dengue disease
hypothyroidism
frozen shoulder
autism spectrum disorder
hepatocellular carcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Serine/arginine-rich splicing factor 1
Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway
SRSF1 · Q07955
Mean pLDDT
70.8/ 100
Confident
248 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
