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Entry version 175 (16 Oct 2019)
Sequence version 1 (13 Aug 1987)
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Protein

Guanine nucleotide-binding protein G(s) subunit alpha isoforms short

Gene

GNAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).5 Publications

Miscellaneous

This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
The 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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi54MagnesiumBy similarity1
Metal bindingi204MagnesiumBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei366GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi47 – 55GTPBy similarity9
Nucleotide bindingi197 – 204GTPBy similarity8
Nucleotide bindingi223 – 227GTPBy similarity5
Nucleotide bindingi292 – 295GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransducer
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787 Hedgehog 'off' state

SIGNOR Signaling Network Open Resource

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SIGNORi
P63092

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.92.1.1 the g-protein AlphaBetaGama complex (gpc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Alternative name(s):
Adenylate cyclase-stimulating G alpha protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNAS
Synonyms:GNAS1, GSP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4392 GNAS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
139320 gene+phenotype

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P63092

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Albright hereditary osteodystrophy (AHO)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00343999L → P in AHO. 1 PublicationCorresponds to variant dbSNP:rs137854531Ensembl.1
Natural variantiVAR_017843115P → L in AHO. 1 PublicationCorresponds to variant dbSNP:rs137854539Ensembl.1
Natural variantiVAR_003440165R → C in AHO. 1 PublicationCorresponds to variant dbSNP:rs137854532Ensembl.1
Natural variantiVAR_017848231R → H in AHO; impairs the ability to mediate hormonal stimulation. 3 PublicationsCorresponds to variant dbSNP:rs137854538Ensembl.1
Natural variantiVAR_031875242T → I in AHO. 1 Publication1
Natural variantiVAR_031876246F → S in AHO. 1 Publication1
Natural variantiVAR_017849250S → R in AHO; may alter guanine nucleotide binding which could lead to thermolability and impaired function. 1 PublicationCorresponds to variant dbSNP:rs137854534Ensembl.1
Natural variantiVAR_015388258R → W in AHO; defective GDP binding resulting in increased thermolability and decreased activation. 1 PublicationCorresponds to variant dbSNP:rs137854535Ensembl.1
Natural variantiVAR_031877259E → V in AHO. 1 Publication1
Natural variantiVAR_003444385R → H in AHO; uncouples receptors from adenylyl cyclases. 1 Publication1
Pseudohypoparathyroidism 1A (PHP1A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031873156D → N in PHP1A. 1 Publication1
Natural variantiVAR_031874159V → M in PHP1A. 1 Publication1
Natural variantiVAR_031878280R → G in PHP1A. 1 Publication1
Natural variantiVAR_031879280R → K in PHP1A. 1 Publication1
Natural variantiVAR_031881338K → N in PHP1A. 1 Publication1
Natural variantiVAR_017850366A → S in PHP1A; the patient also shows testotoxicosis; constitutively activates adenylyl cyclase in vitro; rapidly degraded at 37 degrees resulting in loss of Gs activity. 1 PublicationCorresponds to variant dbSNP:rs137854537Ensembl.1
McCune-Albright syndrome (MAS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003442201R → C in MAS; also found in somatotrophinoma. 2 PublicationsCorresponds to variant dbSNP:rs11554273Ensembl.1
Natural variantiVAR_017844201R → G in MAS. 1 PublicationCorresponds to variant dbSNP:rs11554273Ensembl.1
Natural variantiVAR_003441201R → H in MAS and AIMAH1; also found in somatotrophinoma. 4 PublicationsCorresponds to variant dbSNP:rs121913495Ensembl.1
Progressive osseous heteroplasia (POH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031880281W → R in POH. 1 Publication1
ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003441201R → H in MAS and AIMAH1; also found in somatotrophinoma. 4 PublicationsCorresponds to variant dbSNP:rs121913495Ensembl.1
Natural variantiVAR_017846201R → S in AIMAH1; also found in pituitary tumor and polyostotic fibrous dysplasia. 3 PublicationsCorresponds to variant dbSNP:rs11554273Ensembl.1
Pseudohypoparathyroidism 1B (PHP1B)7 Publications
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.
Disease descriptionA 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.
Related information in OMIM
GNAS hyperfunction (GNASHYP)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThis 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.
Related information in OMIM
Pseudohypoparathyroidism 1C (PHP1C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066387388L → R in PHP1C; significantly reduces receptor-mediated activation; displays normal receptor-independent activation. 1 PublicationCorresponds to variant dbSNP:rs397514457Ensembl.1
Natural variantiVAR_066388392E → K in PHP1C; significantly reduces receptor-mediated activation; displays normal receptor-independent activation. 1 PublicationCorresponds to variant dbSNP:rs397514456Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi170Q → A: Increases GDP release but does not affect receptor-mediated activation. 1 Publication1
Mutagenesisi227Q → L: Increases binding to GAS2L2; when associated with N-295. 1 Publication1
Mutagenesisi258R → A: Increases GDP release and impairs receptor-mediated activation; markedly elevated intrinsic GTPase rate which will lead to more rapid inactivation. 2 Publications1
Mutagenesisi295D → N: Increases binding to GAS2L2; when associated with L-227. 1 Publication1

Keywords - Diseasei

Cushing syndrome, Disease mutation, Dwarfism, Obesity, Proto-oncogene

Organism-specific databases

DisGeNET

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DisGeNETi
2778

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GNAS

MalaCards human disease database

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MalaCardsi
GNAS
MIMi103580 phenotype
139320 gene+phenotype
166350 phenotype
174800 phenotype
219080 phenotype
603233 phenotype
612462 phenotype

Open Targets

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OpenTargetsi
ENSG00000087460

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
189427 Cushing syndrome due to macronodular adrenal hyperplasia
57782 Mazabraud syndrome
562 McCune-Albright syndrome
93277 Monostotic fibrous dysplasia
93276 Polyostotic fibrous dysplasia
2762 Progressive osseous heteroplasia
79443 Pseudohypoparathyroidism type 1A
94089 Pseudohypoparathyroidism type 1B
79444 Pseudohypoparathyroidism type 1C
79445 Pseudopseudohypoparathyroidism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA175

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P63092

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4377

Drug and drug target database

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DrugBanki
DB06843 2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE
DB02587 Colforsin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNAS

Domain mapping of disease mutations (DMDM)

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DMDMi
52000961

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002037212 – 394Guanine nucleotide-binding protein G(s) subunit alpha isoforms shortAdd BLAST393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-palmitoyl glycineBy similarity1
Lipidationi3S-palmitoyl cysteine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei201ADP-ribosylarginine; by cholera toxinBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki300Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Modified residuei352PhosphoserineCombined sources1

Keywords - PTMi

ADP-ribosylation, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P63092

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P63092

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P63092

MaxQB - The MaxQuant DataBase

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MaxQBi
P63092

PeptideAtlas

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PeptideAtlasi
P63092

PRoteomics IDEntifications database

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PRIDEi
P63092

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
1235
57472
57473 [P63092-2]
57474 [P63092-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P63092

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P63092

SwissPalm database of S-palmitoylation events

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SwissPalmi
P63092

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000087460 Expressed in 252 organ(s), highest expression level in telencephalon

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P63092 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P63092 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB010337

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

Interacts with CRY1; the interaction may block GPCR-mediated regulation of cAMP concentrations (PubMed:20852621).

Interacts with ADCY5 and stimulates its adenylyl cyclase activity (PubMed:17110384, PubMed:26206488).

Interacts with ADCY6 and stimulates its adenylyl cyclase activity (PubMed:17110384).

Interacts with ADCY2 (By similarity). Interaction with SASH1 (PubMed:23333244).

Interacts with GAS2L2 (PubMed:23994616).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109040, 109 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P63092

Protein interaction database and analysis system

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IntActi
P63092, 46 interactors

Molecular INTeraction database

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MINTi
P63092

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1394
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P63092

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini39 – 394G-alphaPROSITE-ProRule annotationAdd BLAST356

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni42 – 55G1 motifPROSITE-ProRule annotationAdd BLAST14
Regioni196 – 204G2 motifPROSITE-ProRule annotation9
Regioni219 – 228G3 motifPROSITE-ProRule annotation10
Regioni288 – 295G4 motifPROSITE-ProRule annotation8
Regioni364 – 369G5 motifPROSITE-ProRule annotation6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the G-alpha family. G(s) subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0099 Eukaryota
ENOG410XPC4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156300

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000038729

KEGG Orthology (KO)

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KOi
K04632

Identification of Orthologs from Complete Genome Data

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OMAi
QENRATC

Database of Orthologous Groups

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OrthoDBi
754573at2759

Family and domain databases

Conserved Domains Database

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CDDi
cd00066 G-alpha, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.400.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000367 Gprotein_alpha_S
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase

The PANTHER Classification System

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PANTHERi
PTHR10218 PTHR10218, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00503 G-alpha, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00318 GPROTEINA
PR00443 GPROTEINAS

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00275 G_alpha, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51882 G_ALPHA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform Gnas-1 (identifier: P63092-1) [UniParc]FASTAAdd to basket
Also known as: Alpha-S2, GNASl, Alpha-S-long

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE
60 70 80 90 100
SGKSTIVKQM RILHVNGFNG EGGEEDPQAA RSNSDGEKAT KVQDIKNNLK
110 120 130 140 150
EAIETIVAAM SNLVPPVELA NPENQFRVDY ILSVMNVPDF DFPPEFYEHA
160 170 180 190 200
KALWEDEGVR ACYERSNEYQ LIDCAQYFLD KIDVIKQADY VPSDQDLLRC
210 220 230 240 250
RVLTSGIFET KFQVDKVNFH MFDVGGQRDE RRKWIQCFND VTAIIFVVAS
260 270 280 290 300
SSYNMVIRED NQTNRLQEAL NLFKSIWNNR WLRTISVILF LNKQDLLAEK
310 320 330 340 350
VLAGKSKIED YFPEFARYTT PEDATPEPGE DPRVTRAKYF IRDEFLRIST
360 370 380 390
ASGDGRHYCY PHFTCAVDTE NIRRVFNDCR DIIQRMHLRQ YELL
Length:394
Mass (Da):45,665
Last modified:August 13, 1987 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCD541181FC4412EF
GO
Isoform Gnas-2 (identifier: P63092-2) [UniParc] [UniParc]FASTAAdd to basket
Also known as: Alpha-S1, GNASs, Alpha-S-short

The sequence of this isoform differs from the canonical sequence as follows:
     71-72: EG → DS
     73-86: Missing.

Show »
Length:380
Mass (Da):44,266
Checksum:iC3D8B1E786EBC618
GO
Isoform 3 (identifier: P63092-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-71: E → D
     72-86: Missing.

Note: No experimental confirmation available.
Show »
Length:379
Mass (Da):44,179
Checksum:i6D095E83B1667CAA
GO
Isoform XLas-1 (identifier: Q5JWF2-1) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q5JWF2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Gene prediction confirmed by EST data.
Length:1,037
Mass (Da):111,025
GO
Isoform XLas-2 (identifier: Q5JWF2-2) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q5JWF2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Gene prediction confirmed by EST data.
Length:1,023
Mass (Da):109,626
GO
Isoform XLas-3 (identifier: Q5JWF2-3) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q5JWF2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:752
Mass (Da):77,643
GO
Isoform Nesp55 (identifier: O95467-1) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry O95467.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
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.
Length:245
Mass (Da):28,029
GO
Isoform 4 (identifier: P63092-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-86: G → GS

Note: Gene prediction based on EST data.
Show »
Length:395
Mass (Da):45,752
Checksum:iA808ECA884A6E476
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P84996ALEX_HUMAN
Protein ALEX
GNAS GNAS1
626Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JWE9Q5JWE9_HUMAN
Guanine nucleotide-binding protein ...
GNAS
193Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7F4H0Y7F4_HUMAN
Guanine nucleotide-binding protein ...
GNAS
199Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JWD1Q5JWD1_HUMAN
Guanine nucleotide-binding protein ...
GNAS
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R3E3S4R3E3_HUMAN
Guanine nucleotide-binding protein ...
GNAS
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R3V9S4R3V9_HUMAN
Guanine nucleotide-binding protein ...
GNAS
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MR13A0A0A0MR13_HUMAN
Guanine nucleotide-binding protein ...
GNAS
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6R7U9X6R7U9_HUMAN
Guanine nucleotide-binding protein ...
GNAS
720Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7E8H0Y7E8_HUMAN
Guanine nucleotide-binding protein ...
GNAS
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A2A2R6A2A2R6_HUMAN
Guanine nucleotide-binding protein ...
GNAS
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti3C → Y in AAH66923 (PubMed:15489334).Curated1
Sequence conflicti6N → T in CAA30084 (PubMed:3127824).Curated1
Sequence conflicti72Missing in AAH66923 (PubMed:15489334).Curated1
Sequence conflicti167N → D in AAH22875 (PubMed:15489334).Curated1
Sequence conflicti230E → Q in AAA52583 (PubMed:3024154).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00343999L → P in AHO. 1 PublicationCorresponds to variant dbSNP:rs137854531Ensembl.1
Natural variantiVAR_031872106I → S in AHO/PHP1A. 1 Publication1
Natural variantiVAR_017843115P → L in AHO. 1 PublicationCorresponds to variant dbSNP:rs137854539Ensembl.1
Natural variantiVAR_031873156D → N in PHP1A. 1 Publication1
Natural variantiVAR_031874159V → M in PHP1A. 1 Publication1
Natural variantiVAR_003440165R → C in AHO. 1 PublicationCorresponds to variant dbSNP:rs137854532Ensembl.1
Natural variantiVAR_003442201R → C in MAS; also found in somatotrophinoma. 2 PublicationsCorresponds to variant dbSNP:rs11554273Ensembl.1
Natural variantiVAR_017844201R → G in MAS. 1 PublicationCorresponds to variant dbSNP:rs11554273Ensembl.1
Natural variantiVAR_003441201R → H in MAS and AIMAH1; also found in somatotrophinoma. 4 PublicationsCorresponds to variant dbSNP:rs121913495Ensembl.1
Natural variantiVAR_017845201R → L in non-MAS endocrine tumors. 1 PublicationCorresponds to variant dbSNP:rs121913495Ensembl.1
Natural variantiVAR_017846201R → S in AIMAH1; also found in pituitary tumor and polyostotic fibrous dysplasia. 3 PublicationsCorresponds to variant dbSNP:rs11554273Ensembl.1
Natural variantiVAR_017847227Q → H in pituitary adenomas; also found in a patient with severe Cushing syndrome. 1 PublicationCorresponds to variant dbSNP:rs137854533Ensembl.1
Natural variantiVAR_003443227Q → R in somatotrophinoma. 1 PublicationCorresponds to variant dbSNP:rs121913494Ensembl.1
Natural variantiVAR_017848231R → H in AHO; impairs the ability to mediate hormonal stimulation. 3 PublicationsCorresponds to variant dbSNP:rs137854538Ensembl.1
Natural variantiVAR_031875242T → I in AHO. 1 Publication1
Natural variantiVAR_031876246F → S in AHO. 1 Publication1
Natural variantiVAR_017849250S → R in AHO; may alter guanine nucleotide binding which could lead to thermolability and impaired function. 1 PublicationCorresponds to variant dbSNP:rs137854534Ensembl.1
Natural variantiVAR_015388258R → W in AHO; defective GDP binding resulting in increased thermolability and decreased activation. 1 PublicationCorresponds to variant dbSNP:rs137854535Ensembl.1
Natural variantiVAR_031877259E → V in AHO. 1 Publication1
Natural variantiVAR_031878280R → G in PHP1A. 1 Publication1
Natural variantiVAR_031879280R → K in PHP1A. 1 Publication1
Natural variantiVAR_031880281W → R in POH. 1 Publication1
Natural variantiVAR_031881338K → N in PHP1A. 1 Publication1
Natural variantiVAR_017850366A → S in PHP1A; the patient also shows testotoxicosis; constitutively activates adenylyl cyclase in vitro; rapidly degraded at 37 degrees resulting in loss of Gs activity. 1 PublicationCorresponds to variant dbSNP:rs137854537Ensembl.1
Natural variantiVAR_049358380R → L. Corresponds to variant dbSNP:rs8986Ensembl.1
Natural variantiVAR_034744382Missing Unable to interact with the receptor for PTH. 1 Publication1
Natural variantiVAR_003444385R → H in AHO; uncouples receptors from adenylyl cyclases. 1 Publication1
Natural variantiVAR_066387388L → R in PHP1C; significantly reduces receptor-mediated activation; displays normal receptor-independent activation. 1 PublicationCorresponds to variant dbSNP:rs397514457Ensembl.1
Natural variantiVAR_066388392E → K in PHP1C; significantly reduces receptor-mediated activation; displays normal receptor-independent activation. 1 PublicationCorresponds to variant dbSNP:rs397514456Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00183371 – 72EG → DS in isoform Gnas-2. 2 Publications2
Alternative sequenceiVSP_02661671E → D in isoform 3. 1 Publication1
Alternative sequenceiVSP_02661772 – 86Missing in isoform 3. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_00183473 – 86Missing in isoform Gnas-2. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_04732586G → GS in isoform 4. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X04408 mRNA Translation: CAA27996.1
X04409 mRNA Translation: CAA27997.1
M21142
, M21139, M21740, M21140, M21741, M21141 Genomic DNA Translation: AAA53147.1
M21142
, M21139, M21740, M21140, M21741, M21141 Genomic DNA Translation: AAA53146.1
M21142
, M21139, M21141, M21740, M21741 Genomic DNA Translation: AAA53148.1
M21142
, M21139, M21740, M21741, M21141 Genomic DNA Translation: AAA53149.1
U12466 Genomic DNA Translation: AAB60334.2
X07036 mRNA Translation: CAA30084.1
AF493897 mRNA Translation: AAM12611.1
AF493898 mRNA Translation: AAM12612.1
BT009905 mRNA Translation: AAP88907.1
AL109840 Genomic DNA No translation available.
AL121917 Genomic DNA No translation available.
AL132655 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75468.1
CH471077 Genomic DNA Translation: EAW75460.1
CH471077 Genomic DNA Translation: EAW75463.1
BC002722 mRNA Translation: AAH02722.1
BC008855 mRNA Translation: AAH08855.1
BC066923 mRNA Translation: AAH66923.1
BC022875 mRNA Translation: AAH22875.1
BC104928 mRNA Translation: AAI04929.1
BC108315 mRNA Translation: AAI08316.2
M14631 mRNA Translation: AAA52583.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13472.1
CCDS42892.1 [P63092-3]
CCDS46623.1 [P63092-4]
CCDS46624.1 [P63092-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
B31927 RGHUA2
C31927 RGHUA1

NCBI Reference Sequences

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RefSeqi
NP_000507.1, NM_000516.5 [P63092-1]
NP_001070956.1, NM_001077488.3 [P63092-4]
NP_001070957.1, NM_001077489.3 [P63092-3]
NP_001070958.1, NM_001077490.2
NP_001296769.1, NM_001309840.1
NP_536350.2, NM_080425.3
NP_536351.1, NM_080426.3 [P63092-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265620; ENSP00000265620; ENSG00000087460 [P63092-3]
ENST00000354359; ENSP00000346328; ENSG00000087460 [P63092-4]
ENST00000371085; ENSP00000360126; ENSG00000087460 [P63092-1]
ENST00000371095; ENSP00000360136; ENSG00000087460 [P63092-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2778

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2778

UCSC genome browser

More...
UCSCi
uc002yaa.4 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04408 mRNA Translation: CAA27996.1
X04409 mRNA Translation: CAA27997.1
M21142
, M21139, M21740, M21140, M21741, M21141 Genomic DNA Translation: AAA53147.1
M21142
, M21139, M21740, M21140, M21741, M21141 Genomic DNA Translation: AAA53146.1
M21142
, M21139, M21141, M21740, M21741 Genomic DNA Translation: AAA53148.1
M21142
, M21139, M21740, M21741, M21141 Genomic DNA Translation: AAA53149.1
U12466 Genomic DNA Translation: AAB60334.2
X07036 mRNA Translation: CAA30084.1
AF493897 mRNA Translation: AAM12611.1
AF493898 mRNA Translation: AAM12612.1
BT009905 mRNA Translation: AAP88907.1
AL109840 Genomic DNA No translation available.
AL121917 Genomic DNA No translation available.
AL132655 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75468.1
CH471077 Genomic DNA Translation: EAW75460.1
CH471077 Genomic DNA Translation: EAW75463.1
BC002722 mRNA Translation: AAH02722.1
BC008855 mRNA Translation: AAH08855.1
BC066923 mRNA Translation: AAH66923.1
BC022875 mRNA Translation: AAH22875.1
BC104928 mRNA Translation: AAI04929.1
BC108315 mRNA Translation: AAI08316.2
M14631 mRNA Translation: AAA52583.1
CCDSiCCDS13472.1
CCDS42892.1 [P63092-3]
CCDS46623.1 [P63092-4]
CCDS46624.1 [P63092-2]
PIRiB31927 RGHUA2
C31927 RGHUA1
RefSeqiNP_000507.1, NM_000516.5 [P63092-1]
NP_001070956.1, NM_001077488.3 [P63092-4]
NP_001070957.1, NM_001077489.3 [P63092-3]
NP_001070958.1, NM_001077490.2
NP_001296769.1, NM_001309840.1
NP_536350.2, NM_080425.3
NP_536351.1, NM_080426.3 [P63092-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5G53X-ray3.40C/D26-60[»]
C/D204-394[»]
5UZ7electron microscopy4.10A1-394[»]
5VAIelectron microscopy4.10A1-394[»]
6AU6X-ray1.70A7-394[»]
6B3Jelectron microscopy3.30A1-394[»]
6E3Yelectron microscopy3.30A1-394[»]
6E67X-ray3.70A/B381-393[»]
6EG8X-ray2.80I/J/K/L4-394[»]
6GDGelectron microscopy4.11D6-64[»]
D204-394[»]
6NIYelectron microscopy3.34A1-394[»]
SMRiP63092
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109040, 109 interactors
CORUMiP63092
IntActiP63092, 46 interactors
MINTiP63092

Chemistry databases

ChEMBLiCHEMBL4377
DrugBankiDB06843 2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE
DB02587 Colforsin

Protein family/group databases

TCDBi8.A.92.1.1 the g-protein AlphaBetaGama complex (gpc) family

PTM databases

iPTMnetiP63092
PhosphoSitePlusiP63092
SwissPalmiP63092

Polymorphism and mutation databases

BioMutaiGNAS
DMDMi52000961

Proteomic databases

EPDiP63092
jPOSTiP63092
MassIVEiP63092
MaxQBiP63092
PeptideAtlasiP63092
PRIDEiP63092
ProteomicsDBi1235
57472
57473 [P63092-2]
57474 [P63092-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2778

Genome annotation databases

EnsembliENST00000265620; ENSP00000265620; ENSG00000087460 [P63092-3]
ENST00000354359; ENSP00000346328; ENSG00000087460 [P63092-4]
ENST00000371085; ENSP00000360126; ENSG00000087460 [P63092-1]
ENST00000371095; ENSP00000360136; ENSG00000087460 [P63092-2]
GeneIDi2778
KEGGihsa:2778
UCSCiuc002yaa.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2778
DisGeNETi2778

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GNAS
GeneReviewsiGNAS
HGNCiHGNC:4392 GNAS
HPAiCAB010337
MalaCardsiGNAS
MIMi103580 phenotype
139320 gene+phenotype
166350 phenotype
174800 phenotype
219080 phenotype
603233 phenotype
612462 phenotype
neXtProtiNX_P63092
OpenTargetsiENSG00000087460
Orphaneti189427 Cushing syndrome due to macronodular adrenal hyperplasia
57782 Mazabraud syndrome
562 McCune-Albright syndrome
93277 Monostotic fibrous dysplasia
93276 Polyostotic fibrous dysplasia
2762 Progressive osseous heteroplasia
79443 Pseudohypoparathyroidism type 1A
94089 Pseudohypoparathyroidism type 1B
79444 Pseudohypoparathyroidism type 1C
79445 Pseudopseudohypoparathyroidism
PharmGKBiPA175

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0099 Eukaryota
ENOG410XPC4 LUCA
GeneTreeiENSGT00940000156300
HOGENOMiHOG000038729
KOiK04632
OMAiQENRATC
OrthoDBi754573at2759

Enzyme and pathway databases

ReactomeiR-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787 Hedgehog 'off' state
SIGNORiP63092

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GNAS human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2778
PharosiP63092

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000087460 Expressed in 252 organ(s), highest expression level in telencephalon
ExpressionAtlasiP63092 baseline and differential
GenevisibleiP63092 HS

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR000367 Gprotein_alpha_S
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00443 GPROTEINAS
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
SUPFAMiSSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51882 G_ALPHA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNAS2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P63092
Secondary accession number(s): A6NI00
, E1P5G5, P04895, Q12927, Q14433, Q32P26, Q5JWD2, Q5JWD4, Q5JWD5, Q6NR75, Q6NXS0, Q8TBC0, Q96H70
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: August 13, 1987
Last modified: October 16, 2019
This is version 175 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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