Small nuclear ribonucleoprotein polypeptide N

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SNRPN
Protein SNRPN PDB 1d3b.png
Identifiers
Aliases SNRPN, HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-sm-N, Small nuclear ribonucleoprotein polypeptide N
External IDs MGI: 98347 HomoloGene: 68297 GeneCards: SNRPN
Genetically Related Diseases
obesity[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022808
NM_003097
NM_022805
NM_022806
NM_022807

NM_001082961
NM_001082962
NM_013670

RefSeq (protein)
Location (UCSC) Chr 15: 24.82 – 24.98 Mb Chr 7: 59.98 – 60.14 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.[4][5]

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.[5]

SNRPN-methylation is used to detect uniparental disomy of chromosome 15.[6] 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).[7] UBE3A appears to be paternally methylated (silenced).[citation needed]

References[edit]

  1. ^ "Diseases that are genetically associated with SNRPN view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Schmauss C, Brines ML, Lerner MR (May 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. 
  5. ^ a b "Entrez Gene: SNRPN small nuclear ribonucleoprotein polypeptide N". 
  6. ^ White HE, Durston VJ, Harvey JF, Cross NC (2006). "Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome". Clin. Chem. 52 (6): 1005–13. doi:10.1373/clinchem.2005.065086. PMID 16574761. 
  7. ^ Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W (1997). "Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method". Hum. Mol. Genet. 6 (3): 387–95. doi:10.1093/hmg/6.3.387. PMID 9147641. 

Further reading[edit]