SNURF - SNRPN upstream open reading frame Gene
Species: Homo sapiens
About SNURF
This gene has 3 transcripts (splice variants) and 117 orthologues.
Summary
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
SNURF Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001394334.1 | NP_001381263.1 | SNRPN upstream reading frame protein |
| NM_005678.5 | NP_005669.2 | SNRPN upstream reading frame protein |
| NM_022804.3 | NP_073715.1 | SNRPN upstream reading frame protein |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
SNRPN upstream reading frame protein |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Prader-Willi Syndrome |
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| Angelman Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SNURF | MGD | MGI:1891236 |
| Rattus norvegicus | SNURF | RGD | RGD:69269 |