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. [provided by RefSeq, Mar 2017]
Function:
May be involved in tissue-specific alternative RNA processing events.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in brain and lymphoblasts.
Similarity:
Belongs to the snRNP SmB/SmN family.
SWISS:
P63162
Gene ID:
6638
Database links:
Entrez Gene: 780877 Cow
Entrez Gene: 6638 Human
Entrez Gene: 20646 Mouse
Entrez Gene: 84704 Mouse
Entrez Gene: 81781 Rat
Omim: 182279 Human
SwissProt: Q17QN3 Cow
SwissProt: Q60HD3 Cynomolgus Monkey
SwissProt: P63162 Human
SwissProt: P63163 Mouse
SwissProt: Q5R6I0 Orangutan
SwissProt: P63164 Rat
Unigene: 555970 Human
Unigene: 564847 Human
Unigene: 578619 Human
Unigene: 585703 Human
Unigene: 592473 Human
Unigene: 621316 Human
Unigene: 632166 Human
Unigene: 728856 Human
Unigene: 274995 Mouse
Unigene: 11169 Rat
|
|
