Small nuclear ribonucleoprotein polypeptide N

Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.

SNRPN
Identifiers
Aliases	SNRPN, HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-sm-N, Small nuclear ribonucleoprotein polypeptide N
External IDs	OMIM: 182279; MGI: 98347; HomoloGene: 68297; GeneCards: SNRPN; OMA:SNRPN - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q11.2 Start 24,823,637 bp End 24,978,723 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus prefrontal cortex primary visual cortex cerebellum cerebellar cortex cerebellar hemisphere right frontal lobe right hemisphere of cerebellum Brodmann area 9 hypothalamus n/a More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding RNA binding Cellular component cytoplasm U5 snRNP catalytic step 2 spliceosome U4/U6 x U5 tri-snRNP complex spliceosomal complex U4 snRNP small nuclear ribonucleoprotein complex U2-type prespliceosome nucleus nucleoplasm U1 snRNP U2 snRNP Biological process RNA splicing mRNA splicing, via spliceosome response to hormone Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6638 20646 Ensembl ENSG00000128739 n/a UniProt P63162 P63163 RefSeq (mRNA) NM_001349454 NM_001349455 NM_001349456 NM_001349457 NM_001349458 NM_001349459 NM_001349460 NM_001349461 NM_001349462 NM_001349463 NM_001349464 NM_001349465 NM_003097 NM_022805 NM_022806 NM_022807 NM_022808 NM_001378249 NM_001378251 NM_001378252 NM_001378253 NM_001378254 NM_001378255 NM_001378256 NM_001378257 NM_001082961 NM_001082962 NM_013670 RefSeq (protein) NP_003088 NP_073716 NP_073717 NP_073718 NP_073719 NP_001336383 NP_001336384 NP_001336385 NP_001336386 NP_001336387 NP_001336388 NP_001336389 NP_001336390 NP_001336391 NP_001336392 NP_001336393 NP_001336394 NP_001365178 NP_001365180 NP_001365181 NP_001365182 NP_001365183 NP_001365184 NP_001365185 NP_001365186 NP_001076430 NP_001076431 NP_038698 NP_001336619 NP_001336620 NP_001336621 NP_001336622 NP_001336623 NP_001336624 Location (UCSC) Chr 15: 24.82 – 24.98 Mb n/a PubMed search
Wikidata
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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).

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. S2CID 32755927.
• 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. doi:10.1016/S0021-9258(18)83693-6. 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. doi:10.1093/clinchem/35.9.1861. 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. Bibcode:1989FEBSL.250..585S. doi:10.1016/0014-5793(89)80801-4. PMID 2753153.
• 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. S2CID 39792921.
• 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. doi:10.1016/0378-1119(94)90802-8. 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.
• 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.
• 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. S2CID 20943659.
• 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. PMC 6057871. PMID 8845846.
• 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.
• 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• 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.
• 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. S2CID 20124015.
• 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. doi:10.1086/302177. PMC 1377704. PMID 9915945.
• 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. doi:10.1093/hmg/8.2.337. PMID 9931342.
• 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. Bibcode:1999PNAS...96.5616G. doi:10.1073/pnas.96.10.5616. PMC 21909. PMID 10318933.
• 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. doi:10.1093/nar/27.23.4577. PMC 148745. PMID 10556313.
• Albuquerque D, Manco L, González L, et al. (2017). "Polymorphisms in the SRNPN gene are associated with obesity susceptibility among Spanish population". J. Gene Med. 19 (5): e2956. doi:10.1002/jgm.2956. hdl:10230/60864. PMID 28387446. S2CID 1860814.