SNRPN upstream reading frame protein

SNRPN upstream reading frame, also known as SNURF, is a human gene.cite web | title = Entrez Gene: SNURF SNRPN upstream reading frame| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8926| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: SNURF SNRPN upstream reading frame| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8926| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schmauss C, McAllister G, Ohosone Y, "et al." |title=A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'. |journal=Nucleic Acids Res. |volume=17 |issue= 4 |pages= 1733–43 |year= 1989 |pmid= 2522186 |doi=
*cite journal | author=Rokeach LA, Jannatipour M, Haselby JA, Hoch SO |title=Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis. |journal=J. Biol. Chem. |volume=264 |issue= 9 |pages= 5024–30 |year= 1989 |pmid= 2522449 |doi=
*cite journal | author=Renz M, Heim C, Bräunling O, "et al." |title=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. |journal=Clin. Chem. |volume=35 |issue= 9 |pages= 1861–3 |year= 1989 |pmid= 2528429 |doi=
*cite journal | author=Sharpe NG, Williams DG, Howarth DN, "et al." |title=Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen and specifically reacting with human anti-Sm auto-immune sera. |journal=FEBS Lett. |volume=250 |issue= 2 |pages= 585–90 |year= 1989 |pmid= 2753153 |doi=
*cite journal | author=Esposito F, Fiore F, Cimino F, Russo T |title=Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N". |journal=Biochem. Biophys. Res. Commun. |volume=195 |issue= 1 |pages= 317–26 |year= 1993 |pmid= 8363612 |doi= 10.1006/bbrc.1993.2047
*cite journal | author=Glenn CC, Saitoh S, Jong MT, "et al." |title=Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. |journal=Am. J. Hum. Genet. |volume=58 |issue= 2 |pages= 335–46 |year= 1996 |pmid= 8571960 |doi=
*cite journal | author=Sun Y, Nicholls RD, Butler MG, "et al." |title=Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. |journal=Hum. Mol. Genet. |volume=5 |issue= 4 |pages= 517–24 |year= 1996 |pmid= 8845846 |doi=
*cite journal | author=Gray TA, Saitoh S, Nicholls RD |title=An imprinted, mammalian bicistronic transcript encodes two independent proteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 10 |pages= 5616–21 |year= 1999 |pmid= 10318933 |doi=
*cite journal | author=Poukka H, Aarnisalo P, Santti H, "et al." |title=Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms. |journal=J. Biol. Chem. |volume=275 |issue= 1 |pages= 571–9 |year= 2000 |pmid= 10617653 |doi=
*cite journal | author=Saville B, Poukka H, Wormke M, "et al." |title=Cooperative coactivation of estrogen receptor alpha in ZR-75 human breast cancer cells by SNURF and TATA-binding protein. |journal=J. Biol. Chem. |volume=277 |issue= 4 |pages= 2485–97 |year= 2002 |pmid= 11696545 |doi= 10.1074/jbc.M109021200
*cite journal | author=Runte M, Hüttenhofer A, Gross S, "et al." |title=The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. |journal=Hum. Mol. Genet. |volume=10 |issue= 23 |pages= 2687–700 |year= 2002 |pmid= 11726556 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Runte M, Kroisel PM, Gillessen-Kaesbach G, "et al." |title=SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. |journal=Hum. Genet. |volume=114 |issue= 6 |pages= 553–61 |year= 2004 |pmid= 15014980 |doi= 10.1007/s00439-004-1104-z
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP |title=Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. |journal=Nucleic Acids Res. |volume=33 |issue= 15 |pages= 4740–53 |year= 2005 |pmid= 16116039 |doi= 10.1093/nar/gki786
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406

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