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 |
|---|---|---|---|---|---|
| splicing factor 3b subunit 1 | MIM:605590 | Ensembl:ENSG00000115524 | HGNC:HGNC:10768 | PA35686 | 2q33.1 |
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 |
| CC | IDA | GO:0005689 | U12-type spliceosomal complex |
| CC | IDA | GO:0016607 | nuclear speck |
| CC | IDA | GO:0034693 | U11/U12 snRNP |
| CC | IBA | GO:0071004 | U2-type prespliceosome |
| CC | IDA | GO:0071005 | U2-type precatalytic spliceosome |
| CC | IBA | GO:0071013 | catalytic step 2 spliceosome |
| CC | IDA | GO:0071013 | catalytic step 2 spliceosome |
| BP | IBA | GO:0000245 | spliceosomal complex assembly |
| BP | NAS | GO:0000375 | RNA splicing, via transesterification reactions |
| BP | IC | GO:0000398 | mRNA splicing, via spliceosome |
| BP | IDA | GO:0000398 | mRNA splicing, via spliceosome |
| BP | NAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0045815 | positive regulation of gene expression, epigenetic |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003729 | mRNA binding |
| MF | IPI | GO:0005515 | protein binding |
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 |
| reactome | R-HSA-72165 | mRNA Splicing - Minor Pathway |
| reactome | R-HSA-72172 | mRNA Splicing |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
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
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