Recombinant Human Small nuclear ribonucleoprotein-associated protein N (SNRPN)

Uniprot Id

P63162

Target Species

Human

Target Name

SNRPN

Target Full Name

Small nuclear ribonucleoprotein-associated protein N

Target Function

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

Target Subcellular Location

Nucleus.

Target Protein Families

SnRNP SmB/SmN family

Target Tissue Specificity

Expressed in brain and lymphoblasts.

Target Synonyms

HCERN3; PWCR; RSMN_HUMAN; RT LI; RTLI; SM D; Sm N; Sm protein D; Sm protein N; Sm-D; Sm-N; Small nuclear ribonucleoprotein associated protein N; Small nuclear ribonucleoprotein polypeptide N; Small nuclear ribonucleoprotein-associated protein N; SMD; SmN; SNRNP N; snRNP-N; SNRNPN; SNRPN; SNURF SNRPN; Tissue specific splicing protein; Tissue-specific-splicing protein

Target Background

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome.