SF3B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | SF3B1, Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155, splicing factor 3b subunit 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605590; MGI: 1932339; HomoloGene: 6696; GeneCards: SF3B1; OMA:SF3B1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Splicing factor 3B subunit 1 is a protein that in humans is encoded by the SF3B1 gene.[5][6]
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms.[6]
SF3B1 has been shown to interact with:
Mutations in this gene have been recurrently seen in cases of advanced chronic lymphocytic leukemia,[12] myelodysplastic syndromes[13] and breast cancer.[14] SF3B1 mutations are found in 60%-80% of patients with refractory anemia with ring sideroblasts (RARS; which is a myelodysplastic syndrome) or RARS with thrombocytosis (RARS-T; which is a myelodysplastic syndrome/myeloproliferative neoplasm). There is also an emerging body of evidence to suggest implications of SF3B1 mutations being involved in orbital melanoma.
PDB gallery
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2f9d: 2.5 angstrom resolution structure of the spliceosomal protein p14 bound to region of SF3b155
2f9j: 3.0 angstrom resolution structure of a Y22M mutant of the spliceosomal protein p14 bound to a region of SF3b155
2fho: NMR solution structure of the human spliceosomal protein complex p14-SF3b155
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