SNRPN upstream reading frame protein is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''SNURF''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained

open reading frame In molecular biology, reading frames are defined as spans of DNA sequence between the start and stop codons. Usually, this is considered within a studied region of a prokaryotic DNA sequence, where only one of the six possible reading frames ...

is found on a bicistronic transcript which has a downstream ORF encoding the

small nuclear ribonucleoprotein polypeptide N Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the ''SNRPN'' gene. The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN f ...

. The upstream coding region utilizes the first three

exon An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence ...

s 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 A cistron is a region of DNA that is conceptually equivalent to some definitions of a gene, such that the terms are synonymous from certain viewpoints, especially with regard to the molecular gene as contrasted with the Mendelian gene. The quest ...

transcript. Alternative splicing or deletion caused by a translocation event in the 5'

untranslated region In molecular genetics, an untranslated region (or UTR) refers to either of two sections, one on each side of a coding sequence on a strand of mRNA. If it is found on the Directionality (molecular biology), 5' side, it is called the Five prime ...

or coding region of this gene leads to

Angelman syndrome Angelman syndrome (AS) is a genetic disorder that affects approximately 1 in 15,000 individuals. AS impairs the function of the nervous system, producing symptoms, such as severe intellectual disability, developmental disability, limited to no ...

or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known.

Function

References

Further reading