| Entrez gene ID | | 8926 |
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| Official gene symbol | | SNURF |
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| Full name | | SNRPN upstream reading frame |
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| Aliases | | ,-, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 15 Locus: 15q12 |
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| Gene position | | 25200070 - 25223729 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 23660 bp |
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| Gene sequence |
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