Aliases for SNRPN Gene
External Ids for SNRPN Gene
Previous HGNC Symbols for SNRPN Gene
Previous GeneCards Identifiers for SNRPN 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]
GeneCards Summary for SNRPN Gene
SNRPN (Small Nuclear Ribonucleoprotein Polypeptide N) is a Protein Coding gene. Diseases associated with SNRPN include Prader-Willi Syndrome and Autistic Disorder. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include RNA binding. An important paralog of this gene is SNRPB.
UniProtKB/Swiss-Prot for SNRPN Gene
May be involved in tissue-specific alternative RNA processing events.