Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Gnasprovided by MGI
Official Full Name: GNAS (guanine nucleotide binding protein, alpha stimulating) complex locusprovided by MGI
Primary source: MGI:95777
Locus tag: RP23-439H2.1
See related: Ensembl:ENSMUSG00000027523; Vega:OTTMUSG00000016388
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P1; P2; P3; GSP; Gsa; POH; GPSA; Nesp; Gnas1; Nespl; PHP1A; PHP1B; Gnasxl; Oedsml; Galphas; Oed-Sml; 5530400H20Rik; A930027G11Rik; C130027O20Rik
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 the 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. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both 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 have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Apr 2009]

Genomic context

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Location :: 2 E1-H3; 2 97.89 cM

Sequence :: Chromosome: 2; NC_000068.7 (174284320..174346744)

See Gnas in Epigenomics, MapViewer

Chromosome 2 - NC_000068.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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

Data indicate that mice lacking Gsalpha in osteocytes showed a dramatic increase in myeloid cells in bone marrow, spleen, and peripheral blood.
Title: Myelopoiesis is regulated by osteocytes through Gsα-dependent signaling.
Results indicate that although G(s)alpha deficiency in PVN partially contributes to the metabolic phenotype, G(s)alpha imprinting in other CNS regions is also important in mediating the CNS effects of G(s)alpha mutations.
Title: Gsα deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with Gsα mutations.
Supporting a role for Gnas in adipogenesis in vivo, fat tissue weight and expression of adipogenic genes from multiple types of adipose tissues from Gsalpha(+/p-) mice were significantly decreased.
Title: Paternally inherited gsα mutation impairs adipogenesis and potentiates a lean phenotype in vivo.
in mice with loss of imprinting of Gnas, NREM and complex cognitive processes are enhanced while REM and REM-linked behaviors are inhibited
Title: Loss of Gnas imprinting differentially affects REM/NREM sleep and cognition in mice.
Umami taste receptor functions as an amino acid sensor via Galphas subunit in N1E-115 neuroblastoma cells.
Title: Umami taste receptor functions as an amino acid sensor via Gαs subunit in N1E-115 neuroblastoma cells.
The neonatal phenotype of mutant mice appears to be due to a transient role of XLalphas in muscle tissues.
Title: Postnatal changes in the expression pattern of the imprinted signalling protein XLαs underlie the changing phenotype of deficient mice.
Galphas and cAMP has a divergent requirement in the differentiation and inflammatory profile of distinct mouse Th subsets
Title: Divergent requirement for Gαs and cAMP in the differentiation and inflammatory profile of distinct mouse Th subsets.
Findings indicate that stimulatory G-protein G(alphas)-wt transfected cells showed more sensitization of adenylyl cyclase (AC) and mu1-opioid receptor interacted with G(alphas) after chronic morphine exposure.
Title: Ser/ Thr residues at α3/β5 loop of Gαs are important in morphine-induced adenylyl cyclase sensitization but not mitogen-activated protein kinase phosphorylation.
XLalphas is involved in the regulation of bone and adipocyte metabolism
Title: New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling.
GalphaS protein coupling to adenylate cyclase mediates membrane-tethered amyloid precursor protein intracellular domain-induced neurite outgrowth.
Title: Novel GαS-protein signaling associated with membrane-tethered amyloid precursor protein intracellular domain.

Submit: New GeneRIF Correction See all (58)

Alleles

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Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (Floxed/Frt) (4) 1 citation
Targeted (knock-out) (9) 1 citation
Targeted (other) (5) 1 citation
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:199972	BioGRID:202055	Pcp2	BioGRID	PubMed	Affinity Capture-Western
	NP_081193.2	Zdhhc3	BIND	PubMed	G-alpha-s interacts with DHHC-3. This interaction was modeled on a demonstrated interaction between G-alpha-s from an unspecified species and mouse DHHC-3.
	NP_598728.1	Zdhhc7	BIND	PubMed	G-alpha-s interacts with DHHC-7. This interaction was modeled on a demonstrated interaction between G-alpha-s from an unspecified species and mouse DHHC-7.

Pathways from BioSystems

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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 biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
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...
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, 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 biosystemcomputationally inferred pathway (not manually curated)
G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
G alpha (s) signalling events, organism-specific biosystemcomputationally inferred pathway (not manually curated)
G alpha (z) signalling events, organism-specific biosystem (from REACTOME)
G alpha (z) signalling events, organism-specific biosystemcomputationally inferred pathway (not manually curated)
GPCR downstream signaling, organism-specific biosystem (from REACTOME)
GPCR downstream signaling, organism-specific biosystemcomputationally inferred pathway (not manually curated)
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
Glucagon-type ligand receptors, organism-specific biosystem (from REACTOME)
Glucagon-type ligand receptors, organism-specific biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
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 biosystem
Myometrial Relaxation and Contraction Pathways
Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, the lo...
Ovarian steroidogenesis, conserved biosystem (from KEGG)
Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, the lo...
PKA activation in glucagon signalling, organism-specific biosystem (from REACTOME)
PKA activation in glucagon signalling, organism-specific biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
Prostacyclin signalling through prostacyclin receptor, organism-specific biosystem (from REACTOME)
Prostacyclin signalling through prostacyclin receptor, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
Regulation of Insulin Secretion, organism-specific biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
Regulation of Water Balance by Renal Aquaporins, organism-specific biosystem (from REACTOME)
Regulation of Water Balance by Renal Aquaporins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
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...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemcomputationally inferred pathway (not manually curated)
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 biosystemcomputationally inferred pathway (not manually curated)
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...
estrogen signalling, organism-specific biosystem (from WikiPathways)
estrogen signalling, organism-specific biosystemEstrogen receptor refers to a group of receptors which are activated by the hormone 17&amp;#x3b2;-estradiol (estrogen). Two types of estrogen receptor exist: ER which is a member of the nuclear h...

General gene information

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Markers

Gnas (e-PCR), detects polymorphism
- UniSTS:527361

UniSTS:496676 (e-PCR)
- UniSTS:496676

Gnas (e-PCR), detects polymorphism
- UniSTS:496676

RH94424 (e-PCR)
- UniSTS:119672

Gnas (e-PCR), detects polymorphism
- UniSTS:143227

Gnas (e-PCR), detects polymorphism
- UniSTS:186518

Gnas (e-PCR), detects polymorphism
- UniSTS:507856

PMC22380P2 (e-PCR)
- UniSTS:272105

RH11717 (e-PCR)
- UniSTS:46841

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
G-protein alpha-subunit binding	ISO Inferred from Sequence Orthology more info
G-protein beta-subunit binding	ISO Inferred from Sequence Orthology more info
G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
GTP binding	ISO Inferred from Sequence Orthology more info
GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
GTPase activity	ISA Inferred from Sequence Alignment more info	PubMed
GTPase activity	TAS Traceable Author Statement more info	PubMed
alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
beta-2 adrenergic receptor binding	ISO Inferred from Sequence Orthology more info
corticotropin-releasing hormone receptor 1 binding	ISO Inferred from Sequence Orthology more info
guanyl nucleotide binding	IEA Inferred from Electronic Annotation more info
insulin-like growth factor receptor binding	ISO Inferred from Sequence Orthology more info
ionotropic glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
metal ion binding	IEA Inferred from Electronic Annotation more info
mu-type opioid receptor binding	IBA Inferred from Biological aspect of Ancestor more info
mu-type opioid receptor binding	ISO Inferred from Sequence Orthology more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	ISO Inferred from Sequence Orthology more info
signal transducer activity	IBA Inferred from Biological aspect of Ancestor more info
signal transducer activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
DNA methylation	IMP Inferred from Mutant Phenotype more info
G-protein coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
G-protein coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
GTP catabolic process	ISA Inferred from Sequence Alignment more info	PubMed
GTP catabolic process	TAS Traceable Author Statement more info	PubMed
adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
adenylate cyclase-activating G-protein coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
adenylate cyclase-activating dopamine receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
adenylate cyclase-activating dopamine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to catecholamine stimulus	ISO Inferred from Sequence Orthology more info
cellular response to prostaglandin E stimulus	ISO Inferred from Sequence Orthology more info
embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
energy reserve metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
genetic imprinting	IMP Inferred from Mutant Phenotype more info
multicellular organism growth	IMP Inferred from Mutant Phenotype more info
negative regulation of blood pressure	ISO Inferred from Sequence Orthology more info
negative regulation of renal sodium excretion	ISO Inferred from Sequence Orthology more info
positive regulation of cAMP biosynthetic process	ISO Inferred from Sequence Orthology more info
positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
positive regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
post-embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription from RNA polymerase II promoter	ISO Inferred from Sequence Orthology more info
response to drug	IMP Inferred from Mutant Phenotype more info	PubMed
sensory perception of chemical stimulus	IBA Inferred from Biological aspect of Ancestor more info
signal transduction	IEA Inferred from Electronic Annotation more info
skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
skin development	IMP Inferred from Mutant Phenotype more info
tissue homeostasis	IMP Inferred from Mutant Phenotype more info

Component	Evidence Code	Pubs
cell projection	IEA Inferred from Electronic Annotation more info
cytoplasm	ISO Inferred from Sequence Orthology more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
cytosol	ISO Inferred from Sequence Orthology more info
dendrite	IDA Inferred from Direct Assay more info	PubMed
endosome	ISO Inferred from Sequence Orthology more info
extracellular region	IEA Inferred from Electronic Annotation 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	ISA Inferred from Sequence Alignment more info	PubMed
heterotrimeric G-protein complex	ISO Inferred from Sequence Orthology more info
heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed
colocalizes_with intracellular part	ISO Inferred from Sequence Orthology more info
intrinsic to membrane	ISO Inferred from Sequence Orthology more info
membrane	IDA Inferred from Direct Assay more info	PubMed
membrane	IMP Inferred from Mutant Phenotype more info	PubMed
membrane	ISO Inferred from Sequence Orthology more info
membrane raft	ISO Inferred from Sequence Orthology more info
plasma membrane	ISO Inferred from Sequence Orthology more info
ruffle	ISO Inferred from Sequence Orthology more info
colocalizes_with sarcolemma	ISO Inferred from Sequence Orthology more info
trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info
vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein ALEX; protein GNAS; protein NESP55

Names: protein ALEX; Gs alpha subunit; extra large alphas protein; neuroendocrine secretory protein 55; stimulatory G-protein alpha subunit; alternative gene product encoded by XL-exon; adenylate cyclase-stimulating G alpha protein; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001077507.1 → NP_001070975.1 protein GNAS isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as GNASXL) is paternally expressed. It has an alternate 5' exon, lacks an internal exon and uses an alternate splice site in the coding region, as compared to variant 7. It encodes isoform f, also known as XLas, which has a distinct and much longer N-terminus, lacks an internal segment and has two amino acids different, as compared to isoform GNASL. Isoform f is neuroendocrine-specific G-protein alpha subunit.

Source sequence(s)

AF116268, AL593857, BC062654

Consensus CDS

CCDS38354.1

UniProtKB/Swiss-Prot

P63094

UniProtKB/Swiss-Prot

Q6R0H7

Related

ENSMUSP00000085184, OTTMUSP00000018559, ENSMUST00000087876, OTTMUST00000041362

Conserved Domains (2) summary

smart00275
Location:759 – 1116
Blast Score: 1315

G_alpha; G protein alpha subunit

cd00066
Location:780 – 1113
Blast Score: 1384

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001077510.2 → NP_001070978.1 protein GNAS isoform GNASS

Status: REVIEWED

Description

Transcript Variant: This variant (8) is biallelically expressed. It lacks an internal exon and uses an alternate splice site, as compared to variant 7. It encodes isoform GNASS, also known as alpha-S1, which lacks an internal segment and has two amino acids different, as compared to isoform GNASL.

Source sequence(s)

AK159563, AL593857, BC062654, BF468141

Consensus CDS

CCDS38357.1

UniProtKB/Swiss-Prot

P63094

Related

ENSMUSP00000104713, OTTMUSP00000017945, ENSMUST00000109085, OTTMUST00000040193

Conserved Domains (2) summary

smart00275
Location:20 – 377
Blast Score: 1208

G_alpha; G protein alpha subunit

cd00066
Location:41 – 374
Blast Score: 1291

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_010309.3 → NP_034439.2 protein GNAS isoform XLas

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, as compared to variant 7. 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)

AK132636, AL593857, BC062654

Consensus CDS

CCDS17151.1

UniProtKB/Swiss-Prot

P63094

UniProtKB/Swiss-Prot

Q6R0H7

Related

ENSMUSP00000079341, OTTMUSP00000017632, ENSMUST00000080493, OTTMUST00000039462

Conserved Domains (2) summary

smart00275
Location:759 – 1130
Blast Score: 1305

G_alpha; G protein alpha subunit

cd00066
Location:780 – 1127
Blast Score: 1371

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_019690.2 → NP_062664.2 protein NESP55 isoform NESP55

Status: REVIEWED

Description

Transcript Variant: This variant (4) is maternally expressed. It lacks several 3' exons and has alternate 5' and 3' exons, as compared to variant 7. Variants 3 and 4 both encode neuroendocrine secretory protein 55 (NESP55), which localizes to large secretory vesicles of endocrine cells and neurons. The coding regions of variants 3 and 4 do 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 NESPAS.

Source sequence(s)

AF107847, AK039035, AL593857, BY718446

Consensus CDS

CCDS17149.1

UniProtKB/Swiss-Prot

Q9Z0F1

Related

ENSMUSP00000136180, ENSMUST00000180362

Conserved Domains (1) summary

pfam06390
Location:15 – 253
Blast Score: 300

NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
NM_022000.2 → NP_068840.2 protein NESP55 isoform NESP55

Status: REVIEWED

Description

Transcript Variant: This variant (3) is maternally expressed and has alternate 5' exons, as compared to variant 7. Variants 3 and 4 both encode neuroendocrine secretory protein 55 (NESP55), which localizes to large secretory vesicles of endocrine cells and neurons. The coding regions of variants 3 and 4 do 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 NESPAS.

Source sequence(s)

AJ010163, AK039035, AK132636, BC062654

Consensus CDS

CCDS17149.1

UniProtKB/Swiss-Prot

P63094

UniProtKB/Swiss-Prot

Q9Z0F1

Related

ENSMUSP00000104724, OTTMUSP00000029714, ENSMUST00000109096, OTTMUST00000039465

Conserved Domains (1) summary

pfam06390
Location:15 – 253
Blast Score: 300

NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
NM_201616.1 → NP_963910.1 protein GNAS isoform GNASL

Status: REVIEWED

Description

Transcript Variant: This variant (7) 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)

AK159563, AK168996, BC062654

Consensus CDS

CCDS38356.1

UniProtKB/Swiss-Prot

P63094

Related

ENSMUSP00000104715, ENSMUST00000109087

Conserved Domains (2) summary

smart00275
Location:20 – 391
Blast Score: 1203

G_alpha; G protein alpha subunit

cd00066
Location:41 – 388
Blast Score: 1282

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_201617.1 → NP_963911.1 protein GNAS isoform XXLb1

Status: REVIEWED

Description

Transcript Variant: This variant (6) is paternally expressed. Its 5' exon overlaps with variant 1 and none of its sequence overlaps with variant 7. This variant encodes isoform XXLb1, which has a distinct and shorter C-terminus, compared to isoform XLas.

Source sequence(s)

AK030489, AL593857

Consensus CDS

CCDS38355.1

UniProtKB/Swiss-Prot

Q6R0H6

UniProtKB/Swiss-Prot

Q6R0H7

Conserved Domains (2) summary

smart00275
Location:759 – 786
Blast Score: 102

G_alpha; G protein alpha subunit

PRK12323
Location:88 – 310
Blast Score: 99

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_201618.1 → NP_963912.1 protein ALEX isoform Alex

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, as compared to variant 7. This variant includes two overlapping open reading frames 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)

AK132636, AL593857, BC062654

Consensus CDS

CCDS50817.1

UniProtKB/Swiss-Prot

P63094

UniProtKB/Swiss-Prot

Q6R0H6

Related

ENSMUSP00000104716, OTTMUSP00000029718, ENSMUST00000109088, OTTMUST00000041361

RNA

NR_003258.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9, also known as Exon1A) is paternally expressed and has two alternate 5' exons, as compared to variant 7. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 7. This variant is described in PMID:19412439 and it may regulate imprinting of the GNAS transcripts.

Source sequence(s)

BC062654

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000068.7 Reference GRCm38.p1 C57BL/6J

Range

174284320..174346744

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000024.1 Alternate Mm_Celera

Range

180249319..180306988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_010310.1: Suppressed sequence

Description

NM_010310.1: This RefSeq was permanently suppressed because it is now thought that this transcript does not encode a protein.

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01013218.1	None
genomic	AAHY01013219.1	None
genomic	AF125257.1	None
genomic	AF125315.1	AAD27843.1
genomic	AF152375.1	AAF89525.1	129/SvJ
genomic	AF319946.1	None	129/Ola
genomic	AJ245401.1	CAB57280.1	129/Ola
genomic	AJ245739.1	CAB57283.1	129/Ola
genomic	AJ251761.1	CAB83218.1
		CAB83219.1
genomic	AL593857.10 (140478..202902)	None
genomic	AY518305.1	AAR99380.1	FVB/N
genomic	AY518306.1	AAR99381.1	129/Sv
genomic	AY518307.1	AAR99382.1	BALB/c
genomic	AY518308.1	AAR99383.1	C57BL/6J
genomic	CH466551.1	EDL06665.1	mixed
		EDL06666.1	mixed
		EDL06667.1	mixed
		EDL06671.1	mixed
genomic	L27661.1	AAA37718.1
mRNA	AF107847.1	AAD11805.1	C57BL/6J
mRNA	AF107848.1	AAD11806.1	C57BL/6J
		AAD11807.1	C57BL/6J
mRNA	AF116268.1	AAD14686.1	C57BL
mRNA	AF124383.1	None	129/SvJ
mRNA	AF124384.1	AAF89524.1	129/SvJ
mRNA	AF125259.1	AAD27619.1
mRNA	AF175305.1	AAD55061.1
mRNA	AJ010163.1	CAA09026.1
mRNA	AK017423.1	None	C57BL/6J
mRNA	AK020895.1	None	C57BL/6J
mRNA	AK030489.1	BAC26987.1	C57BL/6J
mRNA	AK039035.1	BAC30214.1	C57BL/6J
mRNA	AK045792.1	None	C57BL/6J
mRNA	AK047990.1	None	C57BL/6J
mRNA	AK078037.1	None	C57BL/6J
mRNA	AK082220.1	None	C57BL/6J
mRNA	AK085136.1	None	C57BL/6J
mRNA	AK086317.1	BAC39648.1	C57BL/6J
mRNA	AK086715.1	BAC39727.1	C57BL/6J
mRNA	AK132636.1	None	C57BL/6J
mRNA	AK147051.1	BAE27636.1
mRNA	AK159563.1	BAE35187.1	C57BL/6J
mRNA	AK161197.1	None	C57BL/6J
mRNA	AK168996.1	BAE40795.1	C57BL/6J
mRNA	AK178212.1	None
mRNA	AK182236.1	None
mRNA	AK182338.1	None
mRNA	AK183674.1	None
mRNA	AK186374.1	None
mRNA	AK187312.1	None
mRNA	AK197380.1	None
mRNA	AK199482.1	None
mRNA	AK212863.1	None
mRNA	AK213752.1	None
mRNA	AK214310.1	None
mRNA	AK215851.1	None
mRNA	AK219846.1	None
mRNA	AY519501.1	AAS00601.1	FVB/N
mRNA	AY519502.1	AAS00602.1	FVB/N
mRNA	AY519503.1	AAS00603.1	FVB/N
mRNA	AY519504.1	AAS00604.1	FVB/N
mRNA	AY682719.1	None	129/Sv
mRNA	BC013824.1	None	FVB/N
mRNA	BC013840.1	None	FVB/N
mRNA	BC018408.1	None	CZECHII
mRNA	BC034446.1	None	CZECHII
mRNA	BC038067.1	AAH38067.1	CZECHII
mRNA	BC048834.1	AAH48834.1	FVB/N
mRNA	BC061496.1	AAH61496.1	FVB/N-3
mRNA	BC062654.1	AAH62654.1	C57BL/6
mRNA	BC080816.1	AAH80816.1
mRNA	BC092055.1	AAH92055.1	CZECHII
mRNA	BC106133.1	AAI06134.1
mRNA	BF468141.1	None	C57BL/6J
mRNA	BY718446.1	None	C57BL/6J
mRNA	M13964.1	AAA37745.1
mRNA	S49979.1	AAB24002.1
mRNA	S49980.1	AAB24003.1
mRNA	S79606.1	None
mRNA	Y00703.1	CAA68695.1	BALB/cSt

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P63094.1	GenPept	UniProtKB/Swiss-Prot:P63094
Q6R0H6.1	GenPept	UniProtKB/Swiss-Prot:Q6R0H6
Q6R0H7.1	GenPept	UniProtKB/Swiss-Prot:Q6R0H7
Q9Z0F1.2	GenPept	UniProtKB/Swiss-Prot:Q9Z0F1