InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNAS

Summary

InnateDB Protein

IDBP-82863.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GNAS

Protein Name

GNAS complex locus

Synonyms

AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH;

Species

Homo sapiens

Ensembl Protein

ENSP00000360115

InnateDB Gene

IDBG-82827 (GNAS)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Secreted {ECO:0000250}. Note=Neuroendocrine secretory granules. {ECO:0000250}.

Disease Associations

ACTH-independent macronodular adrenal hyperplasia (AIMAH) [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:0000269PubMed:12727968}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pseudohypoparathyroidism 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:0000269PubMed:11029463, ECO:0000269PubMed:11067869, ECO:0000269PubMed:11294659, ECO:0000269PubMed:12858292, ECO:0000269PubMed:14561710, ECO:0000269PubMed:15592469, ECO:0000269PubMed: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.GNAS 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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	52 [view]
Protein-Protein	51 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0004871	signal transducer activity
GO:0031852	mu-type opioid receptor binding

Biological Process

GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007565	female pregnancy
GO:0009306	protein secretion
GO:0040015	negative regulation of multicellular organism growth
GO:0071107	response to parathyroid hormone

Cellular Component

GO:0005576	extracellular region
GO:0005624	membrane fraction
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005834	heterotrimeric G-protein complex
GO:0030133	transport vesicle
GO:0031982	vesicle
GO:0042383	sarcolemma
GO:0048471	perinuclear region of cytoplasm