UPF3A

Regulator of nonsense transcripts 3A is a protein that in humans is encoded by the UPF3A gene.[4][5][6]

UPF3A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L08
Identifiers
Aliases	UPF3A, HRENT3A, UPF3, UPF3 regulator of nonsense transcripts homolog A (yeast), regulator of nonsense mediated mRNA decay
External IDs	OMIM: 605530 MGI: 1914281 HomoloGene: 23395 GeneCards: UPF3A
Gene location (Mouse) Chr. Chromosome 8 (mouse)[1] Band 8|8 A1.1 Start 13,785,615 bp[1] End 13,799,193 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • telomeric DNA binding • RNA binding • nucleic acid binding • GO:0005487 structural constituent of nuclear pore Cellular component • exon-exon junction complex • intracellular membrane-bounded organelle • cell nucleus • cytoplasm • cytosol • nucleolus Biological process • mRNA transport • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay • positive regulation of translation • nucleocytoplasmic transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	65110	67031
Ensembl	ENSG00000169062	ENSMUSG00000038398
UniProt	Q9H1J1	Q3ULJ3
RefSeq (mRNA)	NM_023011 NM_080687	NM_025924
RefSeq (protein)	NP_075387 NP_542418 NP_001340573 NP_001340574 NP_001340575 NP_001340576 NP_001340577 NP_001340578 NP_001340579 NP_001340580 NP_001340581	NP_080200
Location (UCSC)	n/a	Chr 8: 13.79 – 13.8 Mb
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene.[6]

Interactions

UPF3A has been shown to interact with RBM8A,[7] UPF2[5][8] and UPF1.[5][9][10]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000038398 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE (January 2001). "Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)". Mol Cell Biol. 21 (1): 209–23. doi:10.1128/MCB.21.1.209-223.2001. PMC 88795. PMID 11113196.
5. Lykke-Andersen J, Shu MD, Steitz JA (February 2001). "Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): 1121–31. doi:10.1016/S0092-8674(00)00214-2. PMID 11163187. S2CID 18417600.
6. "Entrez Gene: UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast)".
7. Kim, V N; Kataoka N; Dreyfuss G (September 2001). "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex". Science. 293 (5536): 1832–6. Bibcode:2001Sci...293.1832K. doi:10.1126/science.1062829. ISSN 0036-8075. PMID 11546873. S2CID 12018200.
8. Lejeune, Fabrice; Li Xiaojie; Maquat Lynne E (September 2003). "Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities". Mol. Cell. 12 (3): 675–87. doi:10.1016/S1097-2765(03)00349-6. ISSN 1097-2765. PMID 14527413.
9. Schell, Thomas; Köcher Thomas; Wilm Matthias; Seraphin Bertrand; Kulozik Andreas E; Hentze Matthias W (August 2003). "Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cells". Biochem. J. 373 (Pt 3): 775–83. doi:10.1042/BJ20021920. ISSN 0264-6021. PMC 1223536. PMID 12723973.
10. Yamashita, A; Ohnishi T; Kashima I; Taya Y; Ohno S (September 2001). "Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay". Genes Dev. 15 (17): 2215–28. doi:10.1101/gad.913001. ISSN 0890-9369. PMC 312771. PMID 11544179.

Further reading

• Yamashita A, Ohnishi T, Kashima I, et al. (2001). "Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay". Genes Dev. 15 (17): 2215–28. doi:10.1101/gad.913001. PMC 312771. PMID 11544179.
• Kim VN, Kataoka N, Dreyfuss G (2001). "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex". Science. 293 (5536): 1832–6. Bibcode:2001Sci...293.1832K. doi:10.1126/science.1062829. PMID 11546873. S2CID 12018200.
• Lykke-Andersen J, Shu MD, Steitz JA (2001). "Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1". Science. 293 (5536): 1836–9. Bibcode:2001Sci...293.1836L. doi:10.1126/science.1062786. PMID 11546874. S2CID 389385.
• Lykke-Andersen J (2003). "Identification of a human decapping complex associated with hUpf proteins in nonsense-mediated decay". Mol. Cell. Biol. 22 (23): 8114–21. doi:10.1128/MCB.22.23.8114-8121.2002. PMC 134073. PMID 12417715.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Chiu SY, Serin G, Ohara O, Maquat LE (2003). "Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1". RNA. 9 (1): 77–87. doi:10.1261/rna.2137903. PMC 1370372. PMID 12554878.
• Lejeune F, Li X, Maquat LE (2003). "Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities". Mol. Cell. 12 (3): 675–87. doi:10.1016/S1097-2765(03)00349-6. PMID 14527413.
• Ohnishi T, Yamashita A, Kashima I, et al. (2004). "Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7". Mol. Cell. 12 (5): 1187–200. doi:10.1016/S1097-2765(03)00443-X. PMID 14636577.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kadlec J, Izaurralde E, Cusack S (2004). "The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3". Nat. Struct. Mol. Biol. 11 (4): 330–7. doi:10.1038/nsmb741. PMID 15004547. S2CID 23042477.
• Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
• Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kunz JB, Neu-Yilik G, Hentze MW, et al. (2006). "Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation". RNA. 12 (6): 1015–22. doi:10.1261/rna.12506. PMC 1464862. PMID 16601204.
• Tarpey PS, Raymond FL, Nguyen LS, et al. (2007). "Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation". Nat. Genet. 39 (9): 1127–33. doi:10.1038/ng2100. PMC 2872770. PMID 17704778.
• Singh G, Jakob S, Kleedehn MG, Lykke-Andersen J (2007). "Communication with the exon-junction complex and activation of nonsense-mediated decay by human Upf proteins occur in the cytoplasm". Mol. Cell. 27 (5): 780–92. doi:10.1016/j.molcel.2007.06.030. PMID 17803942.