“SNRPN upstream reading frame protein”的意思、由来-开放百科全书

Function

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. ^{{cite journal | vauthors = Gray TA, Saitoh S, Nicholls RD | title = An imprinted, mammalian bicistronic transcript encodes two independent proteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 10 | pages = 5616–21 | date = May 1999 | pmid = 10318933 | pmc = 21909 | doi = 10.1073/pnas.96.10.5616 }}
2. ^¹{{cite web | title = Entrez Gene: SNURF SNRPN upstream reading frame| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8926| accessdate = }}

Further reading

{{cite journal | vauthors = Schmauss C, McAllister G, Ohosone Y, Hardin JA, Lerner MR | title = A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B' | journal = Nucleic Acids Research | volume = 17 | issue = 4 | pages = 1733–43 | date = February 1989 | pmid = 2522186 | pmc = 331831 | doi = 10.1093/nar/17.4.1733 }}

{{cite journal | vauthors = Rokeach LA, Jannatipour M, Haselby JA, Hoch SO | title = Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis | journal = The Journal of Biological Chemistry | volume = 264 | issue = 9 | pages = 5024–30 | date = March 1989 | pmid = 2522449 | doi = }}

{{cite journal | vauthors = Renz M, Heim C, Bräunling O, Czichos A, Wieland C, Seelig HP | 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 = Clinical Chemistry | volume = 35 | issue = 9 | pages = 1861–3 | date = September 1989 | pmid = 2528429 | doi = }}

{{cite journal | vauthors = Sharpe NG, Williams DG, Howarth DN, Coles B, Latchman DS | 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 Letters | volume = 250 | issue = 2 | pages = 585–90 | date = July 1989 | pmid = 2753153 | doi = 10.1016/0014-5793(89)80801-4 }}

{{cite journal | vauthors = 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 = Biochemical and Biophysical Research Communications | volume = 195 | issue = 1 | pages = 317–26 | date = August 1993 | pmid = 8363612 | doi = 10.1006/bbrc.1993.2047 }}

{{cite journal | vauthors = Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD | title = Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene | journal = American Journal of Human Genetics | volume = 58 | issue = 2 | pages = 335–46 | date = February 1996 | pmid = 8571960 | pmc = 1914536 | doi = }}

{{cite journal | vauthors = Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG | title = Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient | journal = Human Molecular Genetics | volume = 5 | issue = 4 | pages = 517–24 | date = April 1996 | pmid = 8845846 | doi = 10.1093/hmg/5.4.517 }}

{{cite journal | vauthors = Poukka H, Aarnisalo P, Santti H, Jänne OA, Palvimo JJ | title = Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms | journal = The Journal of Biological Chemistry | volume = 275 | issue = 1 | pages = 571–9 | date = January 2000 | pmid = 10617653 | doi = 10.1074/jbc.275.1.571 }}

{{cite journal | vauthors = Saville B, Poukka H, Wormke M, Janne OA, Palvimo JJ, Stoner M, Samudio I, Safe S | title = Cooperative coactivation of estrogen receptor alpha in ZR-75 human breast cancer cells by SNURF and TATA-binding protein | journal = The Journal of Biological Chemistry | volume = 277 | issue = 4 | pages = 2485–97 | date = January 2002 | pmid = 11696545 | doi = 10.1074/jbc.M109021200 }}

{{cite journal | vauthors = Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K | title = The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A | journal = Human Molecular Genetics | volume = 10 | issue = 23 | pages = 2687–700 | date = November 2001 | pmid = 11726556 | pmc = | doi = 10.1093/hmg/10.23.2687 }}

{{cite journal | vauthors = Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K | title = SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome | journal = Human Genetics | volume = 114 | issue = 6 | pages = 553–61 | date = May 2004 | pmid = 15014980 | doi = 10.1007/s00439-004-1104-z }}

{{cite journal | vauthors = 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 Research | volume = 33 | issue = 15 | pages = 4740–53 | year = 2005 | pmid = 16116039 | pmc = 1188517 | doi = 10.1093/nar/gki786 }}

{{cite journal | vauthors = Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = January 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}