SNURF

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]

Description

SNRPN upstream reading frame

Tissue specificity

Tissue enhanced (skeletal muscle)

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

15 (24954986 - 24977850)

Ensembl ID

ENSG00000273173  (ver. 103.38)

Orthologs

-

UniProt

Q9Y675

neXtProt

NX_Q9Y675

Human splice variants

Protein structure