UPF3A
From Wikipedia, the free encyclopedia
UPF3 regulator of nonsense transcripts homolog A (yeast)
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Identifiers | ||||||||||||||
Symbol(s) | UPF3A; HUPF3A; RENT3A; UPF3 | |||||||||||||
External IDs | OMIM: 605530 MGI: 1914281 HomoloGene: 23395 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 65110 | 67031 | ||||||||||||
Ensembl | ENSG00000169062 | ENSMUSG00000038398 | ||||||||||||
Uniprot | Q9H1J1 | n/a | ||||||||||||
Refseq | NM_023011 (mRNA) NP_075387 (protein) |
XM_356061 (mRNA) XP_356061 (protein) |
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Location | Chr 13: 114.07 - 114.09 Mb | Chr 8: 13.79 - 13.8 Mb | ||||||||||||
Pubmed search | [1] | [2] |
UPF3 regulator of nonsense transcripts homolog A (yeast), also known as UPF3A, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- Serin G, Gersappe A, Black JD, et al. (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: . PMID 11113196.
- Lykke-Andersen J, Shu MD, Steitz JA (2001). "Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon.". Cell 103 (7): 1121-31. PMID 11163187.
- 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: . 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. doi: . PMID 11546873.
- 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. doi: . PMID 11546874.
- 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. 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. doi: . 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. 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. 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. 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: . 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: . PMID 15004547.
- Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13.". Nature 428 (6982): 522-8. doi: . PMID 15057823.
- Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation.". Genome Res. 14 (7): 1315-23. doi: . 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: . 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: . 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: . 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: . PMID 17803942.