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 |
|---|---|---|---|---|---|
OMIM IDMIM:191317 Ensembl IDEnsembl:ENSG00000160201 HGNC IDHGNC:HGNC:12453 PHARMGKB IDPA37103 Map Location21q22.3 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in U2AF1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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