SNRPN upstream reading frame protein
SNRPN upstream reading frame protein is a protein that in humans is encoded by the SNURF gene.[5][6]
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| Aliases | SNURF, SNRPN upstream reading frame, SNRPN upstream open reading frame | ||||||||||||||||||||||||||||||
| External IDs | MGI: 1891236 HomoloGene: 36493 GeneCards: SNURF | ||||||||||||||||||||||||||||||
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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.[6]
References
- GRCh38: Ensembl release 89: ENSG00000273173 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000102627 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Gray TA, Saitoh S, Nicholls RD (May 1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proceedings of the National Academy of Sciences of the United States of America. 96 (10): 5616–21. Bibcode:1999PNAS...96.5616G. doi:10.1073/pnas.96.10.5616. PMC 21909. PMID 10318933.
- "Entrez Gene: SNURF SNRPN upstream reading frame".
Further reading
- Schmauss C, McAllister G, Ohosone Y, Hardin JA, Lerner MR (February 1989). "A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'". Nucleic Acids Research. 17 (4): 1733–43. doi:10.1093/nar/17.4.1733. PMC 331831. PMID 2522186.
- Rokeach LA, Jannatipour M, Haselby JA, Hoch SO (March 1989). "Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis". The Journal of Biological Chemistry. 264 (9): 5024–30. doi:10.1016/S0021-9258(18)83693-6. PMID 2522449.
- Renz M, Heim C, Bräunling O, Czichos A, Wieland C, Seelig HP (September 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". Clinical Chemistry. 35 (9): 1861–3. doi:10.1093/clinchem/35.9.1861. PMID 2528429.
- Sharpe NG, Williams DG, Howarth DN, Coles B, Latchman DS (July 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 Letters. 250 (2): 585–90. doi:10.1016/0014-5793(89)80801-4. PMID 2753153.
- Esposito F, Fiore F, Cimino F, Russo T (August 1993). "Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N"". Biochemical and Biophysical Research Communications. 195 (1): 317–26. doi:10.1006/bbrc.1993.2047. PMID 8363612.
- Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD (February 1996). "Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene". American Journal of Human Genetics. 58 (2): 335–46. PMC 1914536. PMID 8571960.
- Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG (April 1996). "Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient". Human Molecular Genetics. 5 (4): 517–24. doi:10.1093/hmg/5.4.517. PMC 6057871. PMID 8845846.
- Poukka H, Aarnisalo P, Santti H, Jänne OA, Palvimo JJ (January 2000). "Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms". The Journal of Biological Chemistry. 275 (1): 571–9. doi:10.1074/jbc.275.1.571. PMID 10617653.
- Saville B, Poukka H, Wormke M, Janne OA, Palvimo JJ, Stoner M, Samudio I, Safe S (January 2002). "Cooperative coactivation of estrogen receptor alpha in ZR-75 human breast cancer cells by SNURF and TATA-binding protein". The Journal of Biological Chemistry. 277 (4): 2485–97. doi:10.1074/jbc.M109021200. PMID 11696545.
- Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K (November 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): 2687–700. doi:10.1093/hmg/10.23.2687. PMID 11726556.
- Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K (May 2004). "SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome". Human Genetics. 114 (6): 553–61. doi:10.1007/s00439-004-1104-z. PMID 15014980. S2CID 26493956.
- 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 Research. 33 (15): 4740–53. doi:10.1093/nar/gki786. PMC 1188517. PMID 16116039.
- 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 (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
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