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sf3b1
SF3B1
SF3B1 encodes a U2 snRNP scaffold protein; K700E hotspot activates cryptic 3' splice sites → aberrant ABCB7 splicing → mitochondrial iron → ring sideroblasts; SF3B1 K700E is in ~80-90% MDS-RS (favorable), ~15-20% uveal melanoma (Class 1B), ~10-15% CLL (favorable).
Entry Metadata
| Field | Value |
|---|---|
| ID | sf3b1 |
| Name | SF3B1 |
| Status | draft |
| Last reviewed | 2026-06-06 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15):1384-1395. · PubMed 21998202
- Harbour JW, Roberson ED, Anbunathan H, et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet. 2013;45(2):133-135. · PubMed 23313955