UPF3A
UPF3A Regulator of Nonsense Mediated mRNA Decay
Gene Information Card
| Symbol | UPF3A |
|---|---|
| Full Name | UPF3A, regulator of nonsense mediated mRNA decay |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 65110 ncbi.nlm.nih.gov/gene/65110 |
| Ensembl ID | ENSG00000169062 |
| UniProt ID | Q9H1J1 |
| OMIM ID | 605530 |
| HGNC ID | 20332 |
| Aliases | UPF3, RENT3A, HUPF3, UPF3A_HUMAN |
Description
UPF3A (UPF3A, regulator of nonsense mediated mRNA decay) encodes a protein that is a core component of the nonsense-mediated mRNA decay (NMD) pathway. NMD targets mRNAs with premature termination codons for degradation, preventing the production of truncated and potentially harmful proteins. UPF3A interacts with UPF2 and UPF3B to form the surveillance complex. It is ubiquitously expressed and plays a critical role in RNA quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, X-linked 109 (with UPF3B mutations, UPF3A may modify phenotype) | UPF3A interacts with UPF3B; loss of UPF3B leads to NMD dysregulation; UPF3A may partially compensate | PMID: 22885719 |
| Cancer (various types) | Dysregulation of NMD components, including UPF3A, can alter tumor suppressor gene expression | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Liver | 9.3 | Low |
| Kidney | 11.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Medium |
| HeLa | 13.2 | Medium |
| K562 | 10.8 | Medium |
| HepG2 | 9.7 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or prevent translation are predicted to cause loss of function, impairing NMD.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nonsense-mediated mRNA decay | • RNA binding |
| • protein binding | • nucleus |
| • cytoplasm |
Pathways
• Nonsense-Mediated Decay (NMD)
• RNA surveillance
Protein Summary
UPF3A is a 476-amino acid protein that localizes to the nucleus and cytoplasm. It contains a UPF3 domain and is essential for the assembly of the NMD surveillance complex. It binds RNA and interacts with UPF2 and UPF3B. Its expression is regulated in a tissue-specific manner.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UPF3A Knockout HEK293 Cell Line | EDJ-KQ15242 | Human | 65110 | Details Get a Quote |
| UPF3A Knockout A-549 Cell Line | EDJ-KQ47136 | Human | 65110 | Details Get a Quote |
| UPF3A Knockout HCT 116 Cell Line | EDJ-KQ47138 | Human | 65110 | Details Get a Quote |
| UPF3A Knockout HeLa Cell Line | EDJ-KQ47139 | Human | 65110 | Details Get a Quote |
