SNRPN Upstream Reading Frame (SNURF) Human Recombinant Protein

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' 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. [provided by RefSeq, Jul 2008]

SNURF: a highly basic 71-aa nuclear protein. Encoded with SNRPN on a polycistronic transcript. Play an important role in maintaining differentialy methylated DNA. The gene is imprinted, and disruption of imprinting plays a role in Prader-Willi syndrome (PWS). Translated in normal, but not PWS, human, and mouse tissues.

Protein type: Transcription regulation; Gene silencing

Chromosomal Location of Human Ortholog: 15q12

Cellular Component: nucleus