SF3B1
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605590 Ensembl IDEnsembl:ENSG00000115524 HGNC IDHGNC:HGNC:10768 PHARMGKB IDPA35686 Map Location2q33.1 | |||||
Gene Categories:
CLINICALLY ACTIONABLEGO terms in SF3B1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | NAS | GO:0005681 | spliceosomal complex |
| CC | IBA | GO:0005686 | U2 snRNP |
| CC | IDA | GO:0005686 | U2 snRNP |
| CC | IBA | GO:0005689 | U12-type spliceosomal complex |
Gene expression in normal tissue: SF3B1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SF3B1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP411 | mRNA Processing |
| kegg | hsa03040 | Spliceosome - Homo sapiens (human) |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-5250913 | Positive epigenetic regulation of rRNA expression |
| reactome | R-HSA-5250924 | B-WICH complex positively regulates rRNA expression |
| reactome | R-HSA-72163 | mRNA Splicing - Major Pathway |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD419 | Spliceostatin A | 2 |
| iGMDRD1007 | spliceosome inhibitor | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SF3B1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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