SNRPN gene

small nuclear ribonucleoprotein polypeptide N

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]

From UniProt:

May be involved in tissue-specific alternative RNA processing events.

From NCBI Gene:

  • Prader-Willi syndrome
  • Autistic disorder of childhood onset

Cytogenetic Location: 15q11.2, which is the long (q) arm of chromosome 15 at position 11.2

Molecular Location: base pairs 24,823,637 to 24,978,723 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q11.2, which is the long (q) arm of chromosome 15 at position 11.2
  • HCERN3
  • PWCR
  • RT-LI
  • SM-D
  • sm-N
  • SMN