SNURF

GENE INFORMATION

? »

Gene name

SNURF

Synonyms

Description

SNRPN upstream reading frame (HGNC Symbol)

Entrez 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, Jul 2008]

Chromosome

15

Cytoband

q11.2

Chromosome location (bp)

25200181 - 25245423

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000214265 (version 75.37)

Entrez gene

8926

UniProt

Q9Y675 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y675

Antibodypedia

SNURF antibodies
 

PROTEIN VIEW

? »
 
 
 
SNURF-001
 
SNURF-002
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SNURF-001 ENSP00000451898
ENST00000557230
G3V4N2
Show all »
Show » 37 4.5 No 0
SNURF-002 ENSP00000451421
ENST00000551312
Q9Y675
Show all »
Show » 71 8.4 No 0