SF3B1 Chromosome 2
Splicing factor 3b subunit 1
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Armadillo like helical domain containing|SF3b complex|B-WICH chromatin-remodelling complex subunits"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000115524
Associated Conditions (8)
Chronic myelogenous leukemia
BCR-ABL1 positive
SF3B1-related disorder
Myelodysplastic syndrome
Neoplasm
See cases
Myelodysplastic syndrome progressed to acute myeloid leukemia
Acute myeloid leukemia
Key Variants
RS559063155
Conflicting classifications of pathogenicity
Chronic myelogenous leukemia, BCR-ABL1 positive, SF3B1-related disorder
Health Risk
RS1057519961
Likely pathogenic
See cases, See cases
Health Risk
RS377023736
Likely pathogenic
Myelodysplastic syndrome progressed to acute myeloid leukemia, Myelodysplastic syndrome, Acute myeloid leukemia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS559063155 | Health Risk | Conflicting classifications of pathogenicity | Chronic myelogenous leukemia, BCR-ABL1 positive, SF3B1-related disorder |
| RS1057519961 | Health Risk | Likely pathogenic | See cases, See cases |
| RS377023736 | Health Risk | Likely pathogenic | Myelodysplastic syndrome progressed to acute myeloid leukemia, Myelodysplastic syndrome, Acute myeloid leukemia |