U2AF1
Splicing factor U2AF 35 kDa subunit
Also known as: RN, RNU2AF1, U2AF1_HUMAN, U2AF35, U2AFBP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q01081
- Gene
- U2AF1
- Ensembl
- ENSG00000160201
- Chromosome
- 21
- Canonical length
- 240 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
240 residues, UniProt reviewed canonical sequence.
>Q01081|U2AF1
1 MAEYLASIFG TEKDKVNCSF YFKIGACRHG DRCSRLHNKP TFSQTIALLN IYRNPQNSSQ
61 SADGLRCAVS DVEMQEHYDE FFEEVFTEME EKYGEVEEMN VCDNLGDHLV GNVYVKFRRE
121 EDAEKAVIDL NNRWFNGQPI HAELSPVTDF REACCRQYEM GECTRGGFCN FMHLKPISRE
181 LRRELYGRRR KKHRSRSRSR ERRSRSRDRG RGGGGGGGGG GGGRERDRRR SRDRERSGRFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against U2AF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 133 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 133 nTPM
- thymus: 131 nTPM
- tonsil: 118 nTPM
- lymph node: 89 nTPM
- ovary: 85 nTPM
- urinary bladder: 82 nTPM
Single-cell type
- neutrophils: 33 nCPM
- enterocytes: 28 nCPM
- pdcs: 23 nCPM
- epididymal principal cells: 23 nCPM
- breast lactating cells: 19 nCPM
- mast cells: 19 nCPM
Immune cell
- neutrophil: 518 nTPM
- plasmacytoid DC: 514 nTPM
- total PBMC: 393 nTPM
- basophil: 374 nTPM
- T-reg: 372 nTPM
- naive B-cell: 353 nTPM
Brain region
- white matter: 41 nTPM
- cerebral cortex: 39 nTPM
- hypothalamus: 38 nTPM
- cerebellum: 37 nTPM
- medulla oblongata: 36 nTPM
- thalamus: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about U2AF1.
Disease | AllUniProt
Conditions U2AF1 is implicated in, by any mechanism.
- Myelodysplastic syndrome (MDS) MIM:614286
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 3.85
- DepMap mean gene effect
- -1.74
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of U2AF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads U2AF1 as an antibody target. Whether an autoantibody or antibody against U2AF1 could matter depends on whether native U2AF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
U2AF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label U2AF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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