U2AF1 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | U2AF1 |
| Official Name | U2 small nuclear RNA auxiliary factor 1 [Source:HGNC Symbol;Acc:HGNC:12453] |
| Ensembl ID | ENSG00000160201 |
| Bio databases IDs | |
| Aliases | U2 small nuclear RNA auxiliary factor 1 |
| Synonyms | 2010107D16Rik, FP793, RN, RNU2AF1, U2AF35, U2AFBP, U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1, U2 small nuclear RNA auxiliary factor 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human U2AF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arginine serine dipeptide repeat domain
- zinc finger
- RS domain binding
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- Zinc finger C-x8-C-x5-C-x3-H type (and similar)
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- breast adenocarcinoma
- myelodysplastic syndrome
- primary myelofibrosis
- polycythemia vera
- systemic mastocytosis with associated clonal hematological non-mast cell lineage disease
- refractory anemia with excess of blasts type 2
- myeloproliferative neoplasm
- myeloproliferative disorder
- organismal death
role in cell
- expression in
- apoptosis
- phosphorylation in
- accumulation
- cell death
- damage in
- cell viability
- mitosis
- formation
- formation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasmic fraction
- catalytic step 2 spliceosome
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- coiled body
- Cajal bodies
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human U2AF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing
- mRNA processing
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- catalytic step 2 spliceosome
- nuclear speck
- Cajal body
- spliceosomal complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- pre-mRNA 3'-splice site binding
- metal ion binding
- RS domain binding