SNRPN upstream reading frame protein
| SNRPN upstream reading frame | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | SNURF ; | ||||||||||
| External IDs | Template:MGI HomoloGene: 36493 | ||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
SNRPN upstream reading frame, also known as SNURF, is a human gene.[1]
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known.[1]
References
Further reading
- Schmauss C, McAllister G, Ohosone Y; et al. (1989). "A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'". Nucleic Acids Res. 17 (4): 1733–43. PMID 2522186.
- Rokeach LA, Jannatipour M, Haselby JA, Hoch SO (1989). "Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis". J. Biol. Chem. 264 (9): 5024–30. PMID 2522449.
- Renz M, Heim C, Bräunling O; et al. (1989). "Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases". Clin. Chem. 35 (9): 1861–3. PMID 2528429.
- Sharpe NG, Williams DG, Howarth DN; et al. (1989). "Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen and specifically reacting with human anti-Sm auto-immune sera". FEBS Lett. 250 (2): 585–90. PMID 2753153.
- Esposito F, Fiore F, Cimino F, Russo T (1993). "Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N"". Biochem. Biophys. Res. Commun. 195 (1): 317–26. doi:10.1006/bbrc.1993.2047. PMID 8363612.
- Glenn CC, Saitoh S, Jong MT; et al. (1996). "Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene". Am. J. Hum. Genet. 58 (2): 335–46. PMID 8571960.
- Sun Y, Nicholls RD, Butler MG; et al. (1996). "Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient". Hum. Mol. Genet. 5 (4): 517–24. PMID 8845846.
- Gray TA, Saitoh S, Nicholls RD (1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proc. Natl. Acad. Sci. U.S.A. 96 (10): 5616–21. PMID 10318933.
- Poukka H, Aarnisalo P, Santti H; et al. (2000). "Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms". J. Biol. Chem. 275 (1): 571–9. PMID 10617653.
- Saville B, Poukka H, Wormke M; et al. (2002). "Cooperative coactivation of estrogen receptor alpha in ZR-75 human breast cancer cells by SNURF and TATA-binding protein". J. Biol. Chem. 277 (4): 2485–97. doi:10.1074/jbc.M109021200. PMID 11696545.
- Runte M, Hüttenhofer A, Gross S; et al. (2002). "The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A". Hum. Mol. Genet. 10 (23): 2687–700. PMID 11726556.
- 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:10.1073/pnas.242603899. PMID 12477932.
- Runte M, Kroisel PM, Gillessen-Kaesbach G; et al. (2004). "SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome". Hum. Genet. 114 (6): 553–61. doi:10.1007/s00439-004-1104-z. PMID 15014980.
- 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. PMID 15489334.
- Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP (2005). "Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus". Nucleic Acids Res. 33 (15): 4740–53. doi:10.1093/nar/gki786. PMID 16116039.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
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