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UniProt functional annotation for Q96I25 | ||
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| UniProt code: Q96I25. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia. {ECO:0000269|PubMed:12015979, ECO:0000269|PubMed:17589525}. |
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| Subunit: | |
Binds SXL. Associates with the spliceosome. Interacts with SF3B1, SF1 and U2AF2. {ECO:0000269|PubMed:17589525, ECO:0000269|PubMed:9731529}. |
| Subcellular location: | |
Nucleus {ECO:0000269|PubMed:9731529}. |
Annotations taken from UniProtKB at the EBI.