gene: SF3B1
| id | 23451 |
|---|---|
| symbol | SF3B1 |
| organism | Homo sapiens |
| full name | splicing factor 3b subunit 1 |
| summary | 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] |
| variant-disease |
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) AND Myelodysplastic syndrome NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) AND Acute myeloid leukemia NM_012433.3(SF3B1):c.1874G>A (p.Arg625His) AND Adenoid cystic carcinoma NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) AND Acute myeloid leukemia NM_012433.3(SF3B1):c.1873C>G (p.Arg625Gly) AND Chronic lymphocytic leukemia ... 59 more |
| Partner site | screen capture web page on site-shot.com. |
|---|