Recombinant Human SNRPN cell lysate
- Specification
- Gene Information
- Related Products
| Description : |
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons 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 transcript. Alternative splicing or deletion caused by a translocation event in the 5 UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. |
| Species : |
Human |
| Size : |
100 ul |
| Storage Buffer : |
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue) |
| Applications : |
Western Blot; |
| Gene Name : |
SNRPN small nuclear ribonucleoprotein polypeptide N [ Homo sapiens ] |
| Official Symbol : |
SNRPN |
| Synonyms : |
SNRPN; small nuclear ribonucleoprotein polypeptide N; Prader Willi syndrome chromosome region , PWCR; small nuclear ribonucleoprotein-associated protein N; HCERN3; RT LI; SM protein N; SM D; small nuclear ribonucleoprotein N; SMN; SNRNP N; SNURF SNRPN; tissue specific splicing protein; sm protein D; tissue-specific splicing protein; tissue-specific-splicing protein; PWCR; SM-D; sm-N; RT-LI; SNRNP-N; SNURF-SNRPN; FLJ33569; FLJ36996; FLJ39265; MGC29886; DKFZp762N022; DKFZp686C0927; DKFZp761I1912; DKFZp686M12165; |
| Gene ID : |
6638 |
| mRNA Refseq : |
NM_003097 |
| Protein Refseq : |
NP_003088 |
| MIM : |
182279 |
| UniProt ID : |
P63162 |
| Chromosome Location : |
15q12 |
| Pathway : |
mRNA processing, organism-specific biosystem; |
| Function : |
RNA binding; protein binding; |
Products Types
Related Gene
SNRPN
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