2410045I01Rik Protein, Snrpn Protein, SNRPN upstream reading frame Protein, small nuclear ribonucleoprotein polypeptide N Protein, SNURF Protein, SNRPN Protein, Snurf Protein
Hintergrund
SNuRF is 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' uTR 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. Recombinant human SNuRF protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.