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    GNAS GNAS complex locus [ Homo sapiens (human) ]

    Gene ID: 2778, updated on 22-May-2013
    Official Symbol
    GNASprovided by HGNC
    Official Full Name
    GNAS complex locusprovided by HGNC
    Primary source
    HGNC:4392
    Locus tag
    RP4-543J19.4
    See related
    Ensembl:ENSG00000087460; HPRD:00761; MIM:139320; Vega:OTTHUMG00000033069
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AHO; GSA; GSP; POH; GPSA; NESP; GNAS1; PHP1A; PHP1B; PHP1C; C20orf45
    Summary
    This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
    Location :
    20q13.3
    Sequence :
    Chromosome: 20; NC_000020.10 (57414795..57486250)
    See GNAS in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene GNAS antisense RNA 1 Neighboring gene microRNA 296 Neighboring gene microRNA 298 Neighboring gene negative elongation factor complex member C/D Neighboring gene cathepsin Z

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Somatotroph adenoma

    Summary from GeneReviews: AIP-Related Familial Isolated Pituitary Adenomas Go to GeneReviews

    Disease Characteristics
    AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline mutation in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).
    Diagnosis Testing
    The diagnosis of AIP-related FIPA relies on identification of characteristic pituitary adenomas based on hormone secretion, pituitary MRI, and histologic findings, and identification of a heterozygous AIP mutation in an affected family member.
    Genetic Counseling
    AIP-related FIPA is inherited in an autosomal dominant manner. Each child of an individual with AIP-related FIPA has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the AIP disease-causing mutation of an affected family member has been identified; however, requests for prenatal testing for conditions (such as FIPA) that do not affect intellect and have some treatment available are rare. Furthermore, as AIP-related FIPA demonstrates reduced penetrance, the finding of a disease-causing AIP mutation prenatally does not allow accurate prediction of whether a tumor will develop, the adenoma type, age of onset, prognosis, availability of and/or outcome of treatment.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    NP_000507.1 NP_002065.1 GNB1    BIND  PubMed G-beta-1 interacts with G-alpha-s. 
    NP_536350.1 NP_003305.1 TTC1    BIND  PubMed G-alpha-s-Long interacts with TPR1. 
    NP_536351.1 NP_003305.1 TTC1    BIND  PubMed G-alpha-s-Short interacts with TPR1. 
    Q5JWF2 Q08462 ADCY2    HPRD  PubMed  
    Q5JWF2 O95622 ADCY5    HPRD  PubMed  
    Q5JWF2 O43306 ADCY6    HPRD  PubMed  
    Q5JWF2 P30542 ADORA1    HPRD  PubMed  
    Q5JWF2 P13945 ADRB3    HPRD  PubMed  
    Q5JWF2 P30518 AVPR2    HPRD  PubMed  
    Q5JWF2 P56539 CAV3    HPRD  PubMed  
    Q5JWF2 P34998 CRHR1    HPRD  PubMed  
    Q5JWF2 P47871 GCGR    HPRD  PubMed  
    Q5JWF2 Q5JWF2 GNAS    HPRD  PubMed  
    Q5JWF2 P63211 GNGT1    HPRD  PubMed  
    Q5JWF2 P50406 HTR6    HPRD  PubMed  
    Q5JWF2 P01229 LHB    HPRD  PubMed  
    Q5JWF2 P22888 LHCGR    HPRD  PubMed  
    Q5JWF2 Q02818 NUCB1    HPRD  PubMed  
    Q5JWF2 Q13258 PTGDR    HPRD  PubMed  
    Q5JWF2 P43119 PTGIR    HPRD  PubMed  
    Q5JWF2 P41220 RGS2    HPRD  PubMed  
    Q5JWF2 Q9NPQ8 RIC8A    HPRD  PubMed  
    Q5JWF2 Q9NVN3 RIC8B    HPRD  PubMed  
    Q5JWF2 Q9Y5W8 SNX13    HPRD  PubMed  
    Q5JWF2 P16473 TSHR    HPRD  PubMed  
    Q5JWF2 Q99614 TTC1    HPRD  PubMed  
    Q5JWF2 P32241 VIPR1    HPRD  PubMed  
    BioGRID:109040 BioGRID:106625 ADCY6    BioGRID  PubMed Phenotypic Enhancement 
    BioGRID:109040 BioGRID:106663 ADRB2    BioGRID  PubMed FRET 
    BioGRID:109040 BioGRID:107035 AVPR2    BioGRID  PubMed FRET 
    BioGRID:109040 BioGRID:107252 CALM1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109040 BioGRID:107784 CRHR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109040 BioGRID:198534 Cbx1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:112508 FSCN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:109029 GNA11    BioGRID  PubMed Co-fractionation 
    BioGRID:109040 BioGRID:109038 GNAQ    BioGRID  PubMed Co-fractionation 
    BioGRID:109040 BioGRID:109040 GNAS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109040 BioGRID:109044 GNB1    BioGRID  PubMed FRET 
    BioGRID:109040 BioGRID:119933 GNG2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109040 BioGRID:230424 Haus1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:120336 LAMTOR1    BioGRID  PubMed Co-fractionation 
    BioGRID:109040 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109040 BioGRID:110978 NUCB1    BioGRID  PubMed Two-hybrid 
    BioGRID:109040 BioGRID:110979 NUCB2    BioGRID  PubMed Two-hybrid 
    BioGRID:109040 BioGRID:115852 PAICS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:111136 PCK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:111929 RGS2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109040 BioGRID:121946 RIC8A    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109040 BioGRID:114166 RUVBL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:231877 Ric8b    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109040 BioGRID:112368 SHMT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:114164 SLC25A12    BioGRID  PubMed Co-fractionation 
    BioGRID:109040 BioGRID:116773 SNX13    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109040 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:112777 TBXA2R    BioGRID  PubMed FRET 
    BioGRID:109040 BioGRID:113116 TTC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109040 BioGRID:214351 Trim69    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-purification 
    BioGRID:109040 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109040 BioGRID:113274 VIPR1    BioGRID  PubMed Affinity Capture-Western 
    • Alcoholism, organism-specific biosystem (from KEGG)
      Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
    • Alcoholism, conserved biosystem (from KEGG)
      Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amphetamine addiction, organism-specific biosystem (from KEGG)
      Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Amphetamine addiction, conserved biosystem (from KEGG)
      Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
      Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Circadian entrainment, organism-specific biosystem (from KEGG)
      Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
    • Circadian entrainment, conserved biosystem (from KEGG)
      Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
    • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
      Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
    • Cocaine addiction, organism-specific biosystem (from KEGG)
      Cocaine addiction, organism-specific biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
    • Cocaine addiction, conserved biosystem (from KEGG)
      Cocaine addiction, conserved biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endocrine and other factor-regulated calcium reabsorption, conserved biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, conserved biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endothelin, organism-specific biosystem (from WikiPathways)
      Endothelin, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
    • Estrogen signaling pathway, organism-specific biosystem (from KEGG)
      Estrogen signaling pathway, organism-specific biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
    • Estrogen signaling pathway, organism-specific biosystem (from WikiPathways)
      Estrogen signaling pathway, organism-specific biosystemEstrogen receptor refers to a group of receptors which are activated by the hormone 17??-estradiol (estrogen). Two types of estrogen receptor exist: ER which is a member of the nuclear hormone family...
    • Estrogen signaling pathway, conserved biosystem (from KEGG)
      Estrogen signaling pathway, conserved biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
    • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
      G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • G alpha (z) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (z) signalling events, organism-specific biosystemThe heterotrimeric G protein Gz, is a member of the Gi family. Unlike other Gi family members it lacks an ADP ribosylation site cysteine four residues from the carboxyl terminus and is thus pertussis...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Gap junction, organism-specific biosystem (from KEGG)
      Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
    • Gap junction, conserved biosystem (from KEGG)
      Gap junction, conserved biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Glucagon signaling in metabolic regulation, organism-specific biosystem (from REACTOME)
      Glucagon signaling in metabolic regulation, organism-specific biosystemGlucagon and insulin are peptide hormones released from the pancreas into the blood, that normally act in complementary fashion to stabilize blood glucose concentration. When blood glucose levels ris...
    • Glucagon-type ligand receptors, organism-specific biosystem (from REACTOME)
      Glucagon-type ligand receptors, organism-specific biosystemThe glucagon hormone family regulates the activity of GPCRs from the secretin receptor subfamily in Class II/B (Mayo KE et al, 2003).
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
      GnRH signaling pathway, conserved biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Long-term depression, organism-specific biosystem (from KEGG)
      Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term depression, conserved biosystem (from KEGG)
      Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Melanogenesis, organism-specific biosystem (from KEGG)
      Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
    • Melanogenesis, conserved biosystem (from KEGG)
      Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
      Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • Ovarian steroidogenesis, conserved biosystem (from KEGG)
      Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • PKA activation in glucagon signalling, organism-specific biosystem (from REACTOME)
      PKA activation in glucagon signalling, organism-specific biosystemAdenylate cyclase catalyses the synthesis of cyclic AMP (cAMP) from ATP. In the absence of cAMP, protein kinase A (PKA) exists as inactive tetramers of two catalytic subunits and two regulatory subun...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Platelet homeostasis, organism-specific biosystem (from REACTOME)
      Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
    • Prostacyclin signalling through prostacyclin receptor, organism-specific biosystem (from REACTOME)
      Prostacyclin signalling through prostacyclin receptor, organism-specific biosystemProstacyclin (PGI2) is continuously produced by healthy vascular endothelial cells. It inhibits platelet activation through interaction with the Gs-coupled receptor PTGIR, leading to increased cAMP, ...
    • Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Regulation of Insulin Secretion by Glucagon-like Peptide-1, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion by Glucagon-like Peptide-1, organism-specific biosystemGlucagon-like Peptide-1 (GLP-1) is secreted by L-cells in the intestine in response to glucose and fatty acids. GLP-1 circulates to the beta cells of the pancreas where it binds a G-protein coupled r...
    • Regulation of Water Balance by Renal Aquaporins, organism-specific biosystem (from REACTOME)
      Regulation of Water Balance by Renal Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
    • Salivary secretion, organism-specific biosystem (from KEGG)
      Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Salivary secretion, conserved biosystem (from KEGG)
      Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Serotonin Receptor 4/6/7 and NR3C Signaling, organism-specific biosystem (from WikiPathways)
      Serotonin Receptor 4/6/7 and NR3C Signaling, organism-specific biosystemThis pathway is courtesy of Ariadne Genomics Pathway Studio.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • TSH signaling pathway, organism-specific biosystem (from WikiPathways)
      TSH signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein secreted by the anterior part of the pituitary gland (1). TSH plays an important physiological role in the regulation of the hypothalamic-pit...
    • Taste transduction, organism-specific biosystem (from KEGG)
      Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
      Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • Vibrio cholerae infection, conserved biosystem (from KEGG)
      Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

    Markers

    Homology

    • Homologs of the GNAS gene: The GNAS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, chicken, zebrafish, fruit fly, mosquito, and C.elegans.

    Clone Names

    • MGC33735

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    G-protein beta/gamma-subunit complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    adenylate cyclase activity TAS
    Traceable Author Statement
    more info
     
    ionotropic glutamate receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    mu-type opioid receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transducer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    adenylate cyclase-activating dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adenylate cyclase-activating dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    behavior IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cAMP biosynthetic process TAS
    Traceable Author Statement
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to catecholamine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to glucagon stimulus TAS
    Traceable Author Statement
    more info
     
    cellular response to prostaglandin E stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
     
    female pregnancy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    genetic imprinting IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    protein secretion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of chemical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sensory perception of smell TAS
    Traceable Author Statement
    more info
    PubMed 
    skin development IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    water transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
     
    extrinsic to internal side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heterotrimeric G-protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heterotrimeric G-protein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    intrinsic to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein ALEX; protein GNAS; protein NESP55
    Names
    protein ALEX
    secretogranin VI
    extra large alphas protein
    neuroendocrine secretory protein
    guanine nucleotide regulatory protein
    alternative gene product encoded by XL-exon
    adenylate cyclase-stimulating G alpha protein
    guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
    guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016194.1 RefSeqGene

      Range
      5001..76456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000516.4NP_000507.1  protein GNAS isoform GNASL

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is biallelically expressed and encodes guanine nucleotide binding protein alpha s long (GNASL), also known as alpha-S2, a form of the G-protein alpha subunit.
      Source sequence(s)
      AL121917, CA335150, X04408
      Consensus CDS
      CCDS13472.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000360126, OTTHUMP00000031740, ENST00000371085, OTTHUMT00000080431
      Conserved Domains (2) summary
      smart00275
      Location:20391
      Blast Score: 1205
      G_alpha; G protein alpha subunit
      cd00066
      Location:41388
      Blast Score: 1286
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    2. NM_001077488.2NP_001070956.1  protein GNAS isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) is biallelically expressed and uses an alternate splice site, compared to variant 1. It encodes isoform f which has an additional aa in the internal region compared to isoform GNASL.
      Source sequence(s)
      BC008855, BC108315, CA335150, CX869731, M14631
      Consensus CDS
      CCDS46623.1
      UniProtKB/TrEMBL
      A6NI00
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000346328, OTTHUMP00000031743, ENST00000354359, OTTHUMT00000080434
      Conserved Domains (2) summary
      smart00275
      Location:20392
      Blast Score: 1205
      G_alpha; G protein alpha subunit
      cd00066
      Location:41389
      Blast Score: 1285
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    3. NM_001077489.2NP_001070957.1  protein GNAS isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is biallelically expressed and lacks an in-frame coding exon, compared to variant 1. It encodes isoform g, which lacks an internal segment, compared to isoform GNASL.
      Source sequence(s)
      BC008855, BC108315, CA335150, CX869731
      Consensus CDS
      CCDS42892.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000265620, OTTHUMP00000031756, ENST00000265620, OTTHUMT00000080451
      Conserved Domains (2) summary
      smart00275
      Location:20376
      Blast Score: 1220
      G_alpha; G protein alpha subunit
      cd00066
      Location:41373
      Blast Score: 1303
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    4. NM_001077490.1NP_001070958.1  protein ALEX isoform Alex

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as GNASXL), is paternally expressed. It includes an alternate 5' exon, compared to variant 1. This variant includes two overlapping ORFs encoding XLas and Alex, respectively. This RefSeq represents Alex (also known as alexX), which has no similarity to other isoforms encoded by this gene. It interacts with isoform XLas, and their interaction is essential for G-protein signaling in neuroendocrine cells.
      Source sequence(s)
      AL132655, CA335150, X04408
      UniProtKB/Swiss-Prot
      P63092
      UniProtKB/Swiss-Prot
      P84996
    5. NM_016592.2NP_057676.1  protein NESP55 isoform NESP55

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is maternally expressed and encodes neuroendocrine secretory protein 55 (NESP55), which localizes to large secretory vesicles of endocrine cells and neurons. Its coding region is within the 5'-most exon and does not overlap the coding regions used by other transcripts; thus NESP55 has no similarity to isoforms of the G-protein alpha subunit. This variant has an antisense transcript, GNAS-AS1.
      Source sequence(s)
      AF105253, AL132655, CA335150
      Consensus CDS
      CCDS13471.1
      UniProtKB/Swiss-Prot
      O95467
      Related
      ENSP00000360115, OTTHUMP00000196027, ENST00000371075, OTTHUMT00000080430
      Conserved Domains (1) summary
      pfam06390
      Location:1573
      Blast Score: 182
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
    6. NM_080425.2NP_536350.2  protein GNAS isoform XLas

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, compared to variant 1. This variant includes two overlapping open reading frames encoding XLas and Alex, respectively. This RefSeq represents isoform XLas, also known as alpha sXXL, which is a neuroendocrine-specific G-protein alpha subunit; it has a distinct and much longer N-terminus, compared to isoform GNASL.
      Source sequence(s)
      AL132655, CA335150, X04408
      Consensus CDS
      CCDS46622.1
      UniProtKB/Swiss-Prot
      P63092
      UniProtKB/Swiss-Prot
      Q5JWF2
      Related
      ENSP00000360141, OTTHUMP00000031727, ENST00000371100, OTTHUMT00000080417
      Conserved Domains (2) summary
      smart00275
      Location:6691034
      Blast Score: 1269
      G_alpha; G protein alpha subunit
      cd00066
      Location:6841031
      Blast Score: 1366
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    7. NM_080426.2NP_536351.1  protein GNAS isoform GNASS

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is biallelically expressed. It lacks an internal exon and uses an alternate splice site, compared to variant 1. It encodes isoform GNASS, also known as alpha-S1, which differs in an internal region and has identical N- and C-termini, compared to isoform GNASL.
      Source sequence(s)
      AL121917, CA335150, X04409
      Consensus CDS
      CCDS46624.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000360136, OTTHUMP00000031742, ENST00000371095, OTTHUMT00000080433
      Conserved Domains (2) summary
      smart00275
      Location:20377
      Blast Score: 1210
      G_alpha; G protein alpha subunit
      cd00066
      Location:41374
      Blast Score: 1294
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RNA

    1. NR_003259.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) is paternally expressed and has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1. This variant is described in PMID:19412439 and it may regulate imprinting of the GNAS transcripts.
      Source sequence(s)
      AF105253, DB037677, X56009

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p10 Primary Assembly

      Range
      57414795..57486250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      54201757..54273094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018931.1 Alternate CHM1_1.0

      Range
      57384888..57456298
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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