Small nuclear ribonucleoprotein polypeptide N

Small nuclear ribonucleoprotein polypeptide N
File:PBB Protein SNRPN image.jpg PDB rendering based on 1d3b.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1d3b​
Identifiers
Symbols	SNRPN ; SMN; HCERN3; RT-LI; SM-D; SNRNP-N; SNURF-SNRPN
External IDs	Template:OMIM5 Template:MGI HomoloGene: 68297
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Small nuclear ribonucleoprotein polypeptide N, also known as SNRPN, is a human gene.

The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Prader-Willi syndrome due to parental imprint switch failure.

SNRPN-methylation is used to detect uniparental disomy of chromosome 15. After fluorescent-in-situ-hybridization has confirmed the presence of either SNRPN or UBE3A (a neighboring gene that is also imprinted), the methylation test (of SNRPN) can reveal whether the patient has uniparental disomy. SNRPN is maternally methylated (silenced). UBE3A appears to be paternally methylated (silenced) citation needed

Further reading

• Ozçelik T, Leff S, Robinson W; et al. (1993). "Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region". Nat. Genet. 2 (4): 265–9. doi:10.1038/ng1292-265. PMID 1303277.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schmauss C, Brines ML, Lerner MR (1992). "The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons". J. Biol. Chem. 267 (12): 8521–9. PMID 1533223.CS1 maint: Multiple names: authors list (link)
• 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. PMID 2522186.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 2753153.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reed ML, Leff SE (1994). "Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome". Nat. Genet. 6 (2): 163–7. doi:10.1038/ng0294-163. PMID 7512861.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 8571960.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dittrich B, Buiting K, Korn B; et al. (1996). "Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene". Nat. Genet. 14 (2): 163–70. doi:10.1038/ng1096-163. PMID 8841186.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8845846.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Buiting K, Dittrich B, Endele S, Horsthemke B (1997). "Identification of novel exons 3' to the human SNRPN gene". Genomics. 40 (1): 132–7. doi:10.1006/geno.1996.4571. PMID 9070929.CS1 maint: Multiple names: authors list (link)
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fury MG, Zhang W, Christodoulopoulos I, Zieve GW (1998). "Multiple protein: protein interactions between the snRNP common core proteins". Exp. Cell Res. 237 (1): 63–9. doi:10.1006/excr.1997.3750. PMID 9417867.CS1 maint: Multiple names: authors list (link)
• Yang T, Adamson TE, Resnick JL; et al. (1998). "A mouse model for Prader-Willi syndrome imprinting-centre mutations". Nat. Genet. 19 (1): 25–31. doi:10.1038/ng0598-25. PMID 9590284.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kuslich CD, Kobori JA, Mohapatra G; et al. (1999). "Prader-Willi syndrome is caused by disruption of the SNRPN gene". Am. J. Hum. Genet. 64 (1): 70–6. PMID 9915945.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Färber C, Dittrich B, Buiting K, Horsthemke B (1999). "The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion". Hum. Mol. Genet. 8 (2): 337–43. PMID 9931342.CS1 maint: Multiple names: authors list (link)
• Gray TA, Saitoh S, Nicholls RD (1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proc. Natl. Acad. Sci. U.S.A. 96 (10): 5616–21. PMID 10318933.CS1 maint: Multiple names: authors list (link)
• Gray TA, Smithwick MJ, Schaldach MA; et al. (2000). "Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci". Nucleic Acids Res. 27 (23): 4577–84. PMID 10556313.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)