U2AF1
Summary: This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| U2 small nuclear RNA auxiliary factor 1 | MIM:191317 | Ensembl:ENSG00000160201 | HGNC:HGNC:12453 | PA37103 | 21q22.3 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in U2AF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0030628 | pre-mRNA 3'-splice site binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IBA | GO:0000398 | mRNA splicing, via spliceosome |
| BP | IC | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006397 | mRNA processing |
| BP | TAS | GO:0006405 | RNA export from nucleus |
| BP | TAS | GO:0006406 | mRNA export from nucleus |
| BP | TAS | GO:0008380 | RNA splicing |
| BP | TAS | GO:0031124 | mRNA 3'-end processing |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005681 | spliceosomal complex |
| CC | IDA | GO:0005681 | spliceosomal complex |
| CC | TAS | GO:0015030 | Cajal body |
| CC | ISS | GO:0016607 | nuclear speck |
| CC | IDA | GO:0071013 | catalytic step 2 spliceosome |
| CC | IBA | GO:0089701 | U2AF |
| CC | IDA | GO:0089701 | U2AF |
Gene expression in normal tissue: U2AF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in U2AF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| reactome | R-HSA-72163 | mRNA Splicing - Major Pathway |
| reactome | R-HSA-72172 | mRNA Splicing |
| reactome | R-HSA-72187 | mRNA 3'-end processing |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-73856 | RNA Polymerase II Transcription Termination |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
| biocarta | smpathway | spliceosomal assembly |
| kegg | hsa03040 | Spliceosome - Homo sapiens (human) |
| kegg | hsa05131 | Shigellosis - Homo sapiens (human) |
| wikipathways | WP411 | mRNA Processing |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD354 | Midostaurin | 1 |
| iGMDRD135 | Lenalidomide | 1 |
| iGMDRD443 | Linifanib | 1 |
| iGMDRD571 | Cabozantinib | 2 |
| iGMDRD361 | 5Z-7-Oxozeaenol | 1 |
| iGMDRD436 | GSK429286A | 1 |
| iGMDRD392 | Masitinib | 1 |
| iGMDRD1034 | WZ3105 | 1 |
| iGMDRD694 | HG6-64-1 | 1 |
| iGMDRD1032 | VNLG/124 | 1 |
| iGMDRD374 | Zibotentan (ZD4054) | 1 |
| iGMDRD394 | BX-795 | 1 |
| iGMDRD588 | HG-5-88-01 | 1 |
| iGMDRD574 | Ruxolitinib | 1 |
| iGMDRD551 | Ponatinib | 1 |
| iGMDRD733 | SGC0946 | 1 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD758 | JW-7-24-1 | 1 |
| iGMDRD241 | Sunitinib | 2 |
| iGMDRD507 | GSK690693 | 1 |
| iGMDRD134 | Sorafenib | 1 |
| iGMDRD746 | CDK9 Inhibitor | 1 |
| iGMDRD913 | FLT3 inhibitor | 2 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD412 | VX-702 | 1 |
| iGMDRD421 | AZD7762 | 1 |
| iGMDRD556 | Quizartinib | 1 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in U2AF1

