U2AF1
U2 Small Nuclear RNA Auxiliary Factor 1
Gene Information Card
| Symbol | U2AF1 |
|---|---|
| Full Name | U2 Small Nuclear RNA Auxiliary Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 7307 ncbi.nlm.nih.gov/gene/7307 |
| Ensembl ID | ENSG00000160201 |
| UniProt ID | Q01081 |
| OMIM ID | 191317 |
| HGNC ID | 12453 |
| Aliases | U2AF35, U2AFBP, RN, U2AF1-35, U2AF1-35kDa |
Description
U2AF1 encodes the 35 kDa subunit of the U2 small nuclear ribonucleoprotein auxiliary factor (U2AF), a heterodimeric splicing factor essential for pre-mRNA splicing. The U2AF complex recognizes the 3' splice site and polypyrimidine tract, facilitating spliceosome assembly. U2AF1 is recurrently mutated in myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and other myeloid neoplasms, with hotspot mutations at serine 34 (S34F) and glutamine 157 (Q157R) altering RNA splicing specificity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic Syndromes | Recurrent somatic mutations (S34F, Q157R) alter 3' splice site recognition, leading to aberrant splicing of genes involved in hematopoiesis. | ClinVar, COSMIC, NCBI |
| Acute Myeloid Leukemia | U2AF1 mutations are found in ~5-10% of AML cases, contributing to leukemogenesis through dysregulated splicing. | ClinVar, COSMIC |
| Chronic Myelomonocytic Leukemia | U2AF1 mutations are recurrent in CMML, associated with splicing alterations and poor prognosis. | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 45.2 | High |
| Spleen | 38.1 | High |
| Lymph Node | 35.7 | High |
| Lung | 22.3 | Medium |
| Testis | 18.9 | Medium |
| Brain | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 52.1 | Chronic myeloid leukemia cell line |
| HEK 293 | 48.5 | Embryonic kidney cells |
| HeLa | 44.3 | Cervical carcinoma cells |
| HL-60 | 50.8 | Acute promyelocytic leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| S34F | Missense | ~5-10% in MDS | Alters 3' splice site recognition, promotes inclusion of alternative exons |
| Q157R | Missense | ~3-5% in MDS | Disrupts U2AF1-U2AF2 interaction, changes splicing fidelity |
| S34Y | Missense | <1% | Similar effect to S34F, less common |
Mutation functional classification
Loss of Function (LOF)
Not established; mutations are typically gain-of-function or neomorphic.
Gain of Function (GOF)
Yes: S34F and Q157R confer altered splicing specificity, leading to aberrant exon inclusion.
Dominant Negative (DN)
Not established; mutant U2AF1 retains interaction with U2AF2 and alters splicing in a dominant manner.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing (GO:0008380) | • via spliceosome (GO:0000398) |
| • polypyrimidine tract binding (GO:0008186) | • U2 snRNP binding (GO:0030620) |
| • nucleus (GO:0005634) | • spliceosomal complex (GO:0005681) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
U2AF1 is a 35 kDa protein that forms a heterodimer with U2AF2 (65 kDa) to recognize the polypyrimidine tract and 3' splice site during pre-mRNA splicing. It contains an N-terminal RS domain and two C-terminal zinc finger motifs that mediate RNA binding and protein-protein interactions. Recurrent mutations at S34 and Q157 are hotspot alterations in myeloid malignancies, leading to global splicing changes that promote oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| U2AF1L4 Knockout HEK293 Cell Line | EDJ-KQ11704 | Human | 199746 | Details Get a Quote |
| U2AF1L4 Knockout HCT 116 Cell Line | EDJ-KQ40046 | Human | 199746 | Details Get a Quote |
| U2AF1L4 Knockout HeLa Cell Line | EDJ-KQ40047 | Human | 199746 | Details Get a Quote |
| U2AF1L4 Knockout A-549 Cell Line | EDJ-KQ38775 | Human | 199746 | Details Get a Quote |
