SNRPN upstream reading frame protein
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| SNRPN upstream reading frame | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbol | SNURF | ||||||||||||
| External IDs | MGI: 1891236 HomoloGene: 36493 GeneCards: SNURF Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 8926 | 84704 | |||||||||||
| Ensembl | ENSG00000128739 | ENSMUSG00000095746 | |||||||||||
| UniProt | Q9Y675 | Q9WU12 | |||||||||||
| RefSeq (mRNA) | NM_005678 | NM_033174 | |||||||||||
| RefSeq (protein) | NP_005669 | NP_149409 | |||||||||||
| Location (UCSC) | Chr 15: 25.2 – 25.22 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
- ↑ 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.
- ↑ 2.0 2.1 "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.