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Q07955 Proteins RRM domain Repeats
Uniprot ID:Q07955
Protein name: Serine/arginine-rich splicing factor 1
Gene : SRSF1 ASF SF2 SF2P33 SFRS1 OK/SW-cl.3
Protein Family:Splicing factor SR family
Squence Length : 248
Sequnce
>Q07955 249 MSGGGVIRGPAGNNDCRIYVGNLPPDIRTKDIEDVFYKYGAIRDIDLKNRRGGPPFAFVEFEDPRDAEDAVYGRDGYDYDGYRLRVEFPRSGRGTGRGGGGGGGGGAPRGRYGPPSRRSENRVVVSGLPPSGSWQDLKDHMREAGDVCYADVYRDGTGVVEFVRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYGRSRSRSRSRSRSRSRSNSRSRSYSPRRSRGSPRYSPRHSRSRSRT
Domains
DOMAIN 16 91 RRM 1 DOMAIN 121 195 RRM 2
RRM sequence regions
16 - 91 IYVGNLPPDIRTKDIEDVFYKYGAIRDIDLKNRRGGPPFAFVEFEDPRDAEDAVYGRDGYDYDGYRLRVEFPRSGR 121 - 195 VVVSGLPPSGSWQDLKDHMREAGDVCYADVYRDGTGVVEFVRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGP
Function
"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"
Mutation
58 59 FV->SR: In FV1 loss of ability to activate splicing 93 93 R->A: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs when associated with Ala-97 and Ala-109 97 97 R->A: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs when associated with Ala-93 and Ala-109 109 109 R->A: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs when associated with Ala-93 and Ala-97 162 163 FV->SR: In FV2 loss of ability to activate splicing 162 162 F->A: In AV loss of ability to activate splicing 162 162 F->D: Reduced nucleocytoplasmic shuttling when associated with D-190 180 180 F->D: Reduced nucleocytoplasmic shuttling when associated with D-162 182 248 Missing: In MR-B strongly inhibits splicing 182 199 Missing: In MR-E loss of ability to activate splicing 192 248 Missing: In MR-A loss of ability to activate splicing 192 199 Missing: In MR-D loss of ability to activate splicing 199 224 Missing: In RS-A loss of ability to activate splicing but retains splice site switching 215 248 Missing: In RS-C loss of ability to activate splicing but retains splice site switching 226 248 Missing: In RS-B retains both splice activation and splice site switching activity