gsp proto-oncogene (GNAS1)

Pathology: - defects in GNAS/GNAS1 are the cause of GNAS hyperfunction GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally & biallelically expressed proteins. - XLas isoforms are paternally derived - Gnas isoforms are biallelically derived - Nesp55 isoforms are maternally derived

Related

Gs-alpha neuroendocrine secretory protein 55 (NESP55, guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1, secretogranin 6, GNAS, GNAS1) protein ALEX (Alternative gene product encoded by XL-exon, guanine nucleotide-binding protein alpha-stimulating activity polypeptide 1, secretogranin 6, neuroendocrine secretory protein 55, nesp55, GNAS, GNAS1)

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: extra large alpha-s protein messenger RNA TEMPLATE-FOR: neuroendocrine secretory protein 55 messenger RNA TEMPLATE-FOR: protein ALEX LOCUS: human chromosome-20 Q13.2 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

References

- Hunter T. Cooperation between oncogenes. Cell. 1991 Jan 25;64(2):249-70. Review. PMID: 1988147 ALEX & XLas are derived from an overlapping reading frame