SNRPN upstream reading frame protein

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

SNURF
Identifiers
Aliases	SNURF, SNRPN upstream reading frame, SNRPN upstream open reading frame
External IDs	MGI: 1891236; HomoloGene: 36493; GeneCards: SNURF; OMA:SNURF - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q11.2 Start 24,954,986 bp[1] End 24,977,850 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B5 Start 59,645,197 bp[2] End 59,654,797 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence stromal cell of endometrium islet of Langerhans skeletal muscle tissue superior frontal gyrus right auricle of heart left ventricle corpus callosum Descending thoracic aorta gonad Top expressed in hypothalamus striatum of neuraxis dentate gyrus of hippocampal formation granule cell primary visual cortex layer of retina neural layer of retina cerebellum cerebellar cortex Cortex of frontal lobe epiblast More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function protein binding RNA binding Cellular component nucleus nuclear speck cytoplasm U5 snRNP catalytic step 2 spliceosome U4/U6 x U5 tri-snRNP complex spliceosomal complex U4 snRNP small nuclear ribonucleoprotein complex U2-type prespliceosome nucleoplasm U1 snRNP U2 snRNP Biological process biological process RNA splicing mRNA splicing, via spliceosome response to hormone Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8926 84704 Ensembl ENSG00000273173 ENSMUSG00000102627 UniProt Q9Y675 P63162 Q9WU12 RefSeq (mRNA) NM_005678 NM_022804 NM_001394334 NM_033174 RefSeq (protein) NP_005669 NP_073715 NP_003088 NP_073716 NP_073717 NP_073718 NP_073719 NP_001336383 NP_001336384 NP_001336385 NP_001336386 NP_001336387 NP_001336388 NP_001336389 NP_001336390 NP_001336391 NP_001336392 NP_001336393 NP_001336394 NP_001365178 NP_001365180 NP_001365181 NP_001365182 NP_001365183 NP_001365184 NP_001365185 NP_001365186 NP_149409 Location (UCSC) Chr 15: 24.95 – 24.98 Mb Chr 7: 59.65 – 59.65 Mb PubMed search [3] [4]
Wikidata
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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]