SNRPN upstream reading frame protein

SNRPN upstream reading frame
Identifiers
Symbol	SNURF
External IDs	MGI: 1891236 HomoloGene: 36493 GeneCards: SNURF Gene
Gene ontology Molecular function • molecular_function Cellular component • nucleus Biological process • biological_process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8926	84704
Ensembl	ENSG00000273173	ENSMUSG00000102627
UniProt	Q9Y675	Q9WU12
RefSeq (mRNA)	NM_005678	NM_033174
RefSeq (protein)	NP_005669	NP_149409
Location (UCSC)	Chr 15: 24.95 – 24.98 Mb	Chr 7: 60 – 60.01 Mb
PubMed search

SNRPN upstream reading frame protein is a protein that in humans is encoded by the SNURF gene.^[1][2]

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' untranslated region 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.^[2]

References

1. Gray TA, Saitoh S, Nicholls RD (Jun 1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proc Natl Acad Sci U S A 96 (10): 5616–21. doi:10.1073/pnas.96.10.5616. PMC 21909. PMID 10318933.
2. "Entrez Gene: SNURF SNRPN upstream reading frame".

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. doi:10.1093/nar/17.4.1733. PMC 331831. 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. doi:10.1016/0014-5793(89)80801-4. 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. PMC 1914536. 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. doi:10.1093/hmg/5.4.517. PMID 8845846.
• 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. doi:10.1074/jbc.275.1.571. 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, Maren; Hüttenhofer, Alexander; Gross, Stephanie; Kiefmann, Martin; Horsthemke, Bernhard; Buiting, Karin (2001). "The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A". Human Molecular Genetics 10 (23): 2687–2700. doi:10.1093/hmg/10.23.2687. 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. PMC 139241. 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. PMC 528928. 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. PMC 1188517. 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. PMC 1356129. PMID 16344560.