Homo sapiens Protein: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-82845.7 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | ENSP00000360136 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-82827 (GNAS) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Function | Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it activates the cyclase in response to beta-adrenergic stimuli. Stimulates the Ras signaling pathway via RAPGEF2. {ECO:0000269PubMed:12391161}. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disease Associations | Albright hereditary osteodystrophy (AHO) [MIM:103580]: A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. {ECO:0000269PubMed:11450852, ECO:0000269PubMed:11600516, ECO:0000269PubMed:12624854, ECO:0000269PubMed:15817905, ECO:0000269PubMed:7523385, ECO:0000269PubMed:8388883, ECO:0000269PubMed:9328353, ECO:0000269PubMed:9727013}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. {ECO:0000269PubMed:11788646, ECO:0000269PubMed:11926205, ECO:0000269PubMed:12656668}. Note=The disease is caused by mutations affecting the gene represented in this entry.McCune-Albright syndrome (MAS) [MIM:174800]: Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. {ECO:0000269PubMed:10571700, ECO:0000269PubMed:1594625, ECO:0000269PubMed:1944469, ECO:0000269PubMed:7751320}. Note=The disease is caused by mutations affecting the gene represented in this entry.Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include somatotropinoma and prolactinoma. Note=The disease is caused by mutations affecting the gene represented in this entry.Progressive osseous heteroplasia (POH) [MIM:166350]: Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. {ECO:0000269PubMed:14723729}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. {ECO:0000269PubMed:21488135}. 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.
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Gene Ontology | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
InterPro |
IPR000367
G-protein alpha subunit, group S IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit IPR006689 Small GTPase superfamily, ARF/SAR type IPR011025 G protein alpha subunit, helical insertion IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00503
PF00025 |
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PRINTS |
PR00443
PR00318 PR00328 |
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PIRSF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
SMART |
SM00275
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TIGRFAMs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
SwissProt | P63092 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P63092 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Entrez Gene | 2778 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
UniGene | Hs.694849 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
RefSeq | NP_536351 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
HUGO | HGNC:4392 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
OMIM | 139320 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
CCDS | CCDS46624 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
HPRD | 00761 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
EMBL | AF493897 AF493898 AL109840 AL121917 AL132655 BC002722 BC008855 BC022875 BC066923 BC104928 BC108315 BT009905 CH471077 M14631 M21139 M21140 M21141 M21142 M21740 M21741 U12466 X04408 X04409 X07036 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
GenPept | AAA52583 AAA53146 AAA53147 AAA53148 AAA53149 AAB60334 AAH02722 AAH08855 AAH22875 AAH66923 AAI04929 AAI08316 AAM12611 AAM12612 AAP88907 CAA27996 CAA27997 CAA30084 CAI42546 CAI42547 CAI42548 CAI42549 CAI42914 CAI42915 CAI42916 CAI42917 EAW75460 EAW75463 EAW75468 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||