Identity
HGNC
LOCATION
Xq24
LOCUSID
ALIAS
HUPF3B,MRX62,MRX82,MRXS14,RENT3B,UPF3BP1,UPF3BP2,UPF3BP3,UPF3X,Upf3p-X
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 65109
MIM: 300298
HGNC: 20439
Ensembl: ENSG00000125351
Variants:
dbSNP: 65109
ClinVar: 65109
TCGA: ENSG00000125351
COSMIC: UPF3B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125351 | ENST00000276201 | Q9BZI7 |
| ENSG00000125351 | ENST00000345865 | Q9BZI7 |
| ENSG00000125351 | ENST00000619445 | A0A087WYC8 |
| ENSG00000125351 | ENST00000636792 | A0A1B0GVA2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37797718 | 2023 | Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients. | 1 |
| 37797718 | 2023 | Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients. | 1 |
| 35451084 | 2022 | Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. | 12 |
| 35451102 | 2022 | Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding. | 16 |
| 35640974 | 2022 | Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation. | 6 |
| 36194583 | 2022 | Up-Frameshift Suppressor 3 as a prognostic biomarker and correlated with immune infiltrates: A pan-cancer analysis. | 2 |
| 35451084 | 2022 | Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. | 12 |
| 35451102 | 2022 | Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding. | 16 |
| 35640974 | 2022 | Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation. | 6 |
| 36194583 | 2022 | Up-Frameshift Suppressor 3 as a prognostic biomarker and correlated with immune infiltrates: A pan-cancer analysis. | 2 |
| 32667670 | 2020 | A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. | 8 |
| 32667670 | 2020 | A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. | 8 |
| 29528287 | 2018 | ICE1 promotes the link between splicing and nonsense-mediated mRNA decay. | 35 |
| 29528287 | 2018 | ICE1 promotes the link between splicing and nonsense-mediated mRNA decay. | 35 |
| 28899899 | 2017 | Dual function of UPF3B in early and late translation termination. | 57 |
Citation
Dessen P
UPF3B (UPF3B regulator of nonsense mediated mRNA decay)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75497/upf3b-(upf3b-regulator-of-nonsense-mediated-mrna-decay)
