SNRPN upstream reading frame protein

SNRPN upstream reading frame protein is a protein that in humans is encoded by the SNURF gene.[5][6]

SNURF
Identifiers
AliasesSNURF, SNRPN upstream reading frame, SNRPN upstream open reading frame
External IDsMGI: 1891236 HomoloGene: 36493 GeneCards: SNURF
Orthologs
SpeciesHumanMouse
Entrez

8926

84704

Ensembl

ENSG00000273173

ENSMUSG00000102627

UniProt

Q9Y675
P63162

Q9WU12

RefSeq (mRNA)

NM_005678
NM_022804
NM_001394334

NM_033174

RefSeq (protein)

NP_149409

Location (UCSC)Chr 15: 24.95 – 24.98 MbChr 7: 59.65 – 59.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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' untranslated region 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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000273173 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000102627 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Gray TA, Saitoh S, Nicholls RD (May 1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proceedings of the National Academy of Sciences of the United States of America. 96 (10): 5616–21. Bibcode:1999PNAS...96.5616G. doi:10.1073/pnas.96.10.5616. PMC 21909. PMID 10318933.
  6. "Entrez Gene: SNURF SNRPN upstream reading frame".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.