Protein structure
AC124312.1
Novel proteinThis 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. [provided by RefSeq, Jul 2008]
Top validated antibodies |
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Acris Antibodies GmbH | AP12466PU-N | Polyclonal |
WB
EL |
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MilliporeSigma / Merck KGaA | SAB1400327 | Polyclonal |
EL
ICC |
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antibodies-online | ABIN557506 | Polyclonal |
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