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MGP001250

UniProt Annotations

Entry Information
Gene NameGNAS complex locus
Protein Entry
UniProt IDP63092
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=Nesp55 {ECO:0000269|PubMed:10729789, ECO:0000269|PubMed:10749992, ECO:0000269|PubMed:9860993, ECO:0000269|Ref.4}; IsoId=O95467-1; Sequence=Displayed; Note=Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.; Name=XLas-1; IsoId=Q5JWF2-1; Sequence=External; Note=Gene prediction confirmed by EST data.; Name=XLas-2; IsoId=Q5JWF2-2; Sequence=External; Note=Gene prediction confirmed by EST data.; Name=XLas-3; IsoId=Q5JWF2-3; Sequence=External; Name=Gnas-1 {ECO:0000305}; Synonyms=Alpha-S2 {ECO:0000305}, GNASl {ECO:0000305}, Alpha-S-long {ECO:0000305}; IsoId=P63092-1, P04895-1; Sequence=External; Name=Gnas-2 {ECO:0000305}; Synonyms=Alpha-S1 {ECO:0000305}, GNASs {ECO:0000305}, Alpha-S-short {ECO:0000305}; IsoId=P63092-2, P04895-2; Sequence=External; Name=3; IsoId=P63092-3; Sequence=External; Note=No experimental confirmation available.;
DiseaseACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080]: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:12727968}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseGNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. {ECO:0000269|PubMed:11029463, ECO:0000269|PubMed:11067869, ECO:0000269|PubMed:11294659, ECO:0000269|PubMed:12858292, ECO:0000269|PubMed:14561710, ECO:0000269|PubMed:15592469, ECO:0000269|PubMed:15800843}. Note=The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed.
MiscellaneousThe GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived and the Nesp55 isoforms are maternally derived.
MiscellaneousThis protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame. {ECO:0000305}.
PtmBinds keratan sulfate chains. {ECO:0000250|UniProtKB:O18979}.
PtmMay be proteolytically processed to give rise to a number of active peptides. {ECO:0000269|PubMed:10729789}.
SimilarityBelongs to the NESP55 family. {ECO:0000255}.
Subcellular LocationCytoplasmic vesicle, secretory vesicle {ECO:0000250}. Secreted {ECO:0000250}. Note=Neuroendocrine secretory granules. {ECO:0000250}.
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