Version 5.4
Bos taurus Gene: GNAS
Summary
InnateDB Gene IDBG-641209.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNAS
Gene Name Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000017475
Encoded Proteins
IDBP-693548
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
IDBP-693552
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000087460:
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:58010287-58049012
Strand Reverse strand
Band
Transcripts
ENSBTAT00000023246 ENSBTAP00000023246
ENSBTAT00000023234 ENSBTAP00000023234
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 35 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 35 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005159 insulin-like growth factor receptor binding
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031698 beta-2 adrenergic receptor binding
GO:0031748 D1 dopamine receptor binding
GO:0031852 mu-type opioid receptor binding
GO:0035255 ionotropic glutamate receptor binding
GO:0046872 metal ion binding
GO:0051430 corticotropin-releasing hormone receptor 1 binding
Biological Process
GO:0001501 skeletal system development
GO:0001894 tissue homeostasis
GO:0001958 endochondral ossification
GO:0006112 energy reserve metabolic process
GO:0006184 GTP catabolic process
GO:0006306 DNA methylation
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007606 sensory perception of chemical stimulus
GO:0009791 post-embryonic development
GO:0030819 positive regulation of cAMP biosynthetic process
GO:0032320 positive regulation of Ras GTPase activity
GO:0035116 embryonic hindlimb morphogenesis
GO:0035264 multicellular organism growth
GO:0040032 post-embryonic body morphogenesis
GO:0042493 response to drug
GO:0043588 skin development
GO:0043950 positive regulation of cAMP-mediated signaling
GO:0045669 positive regulation of osteoblast differentiation
GO:0045672 positive regulation of osteoclast differentiation
GO:0048589 developmental growth
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0050890 cognition
GO:0051216 cartilage development
GO:0060348 bone development
GO:0060789 hair follicle placode formation
GO:0070527 platelet aggregation
GO:0071514 genetic imprinting
GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway
Cellular Component
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030425 dendrite
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000087460
View Gene Order
ENSMUSG00000027523
View Gene Order
Pathways
NETPATH
REACTOME
REACT_216552
Aquaporin-mediated transport pathway
REACT_202137
Vasopressin regulates renal water homeostasis via Aquaporins pathway
REACT_209110
Regulation of insulin secretion pathway
REACT_220607
Glucagon-type ligand receptors pathway
REACT_205369
Signaling by GPCR pathway
REACT_206547
G alpha (s) signalling events pathway
REACT_227415
Prostacyclin signalling through prostacyclin receptor pathway
REACT_212196
Hemostasis pathway
REACT_217101
Integration of energy metabolism pathway
REACT_223103
Transmembrane transport of small molecules pathway
REACT_210568
G alpha (i) signalling events pathway
REACT_214353
Signal Transduction pathway
REACT_270061
Hedgehog 'off' state pathway
REACT_209440
Platelet homeostasis pathway
REACT_214436
GPCR downstream signaling pathway
REACT_220217
GPCR ligand binding pathway
REACT_219139
Metabolism pathway
REACT_217846
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion pathway
REACT_241835
Signaling by Hedgehog pathway
REACT_219718
PKA activation in glucagon signalling pathway
REACT_221707
Glucagon signaling in metabolic regulation pathway
REACT_204109
Class B/2 (Secretin family receptors) pathway
REACT_209033
G alpha (z) signalling events pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_23
TSH pathway
REACTOME
REACT_23946
Prostacyclin signalling through prostacyclin receptor pathway
REACT_23876
Platelet homeostasis pathway
REACT_24023
Vasopressin regulates renal water homeostasis via Aquaporins pathway
REACT_19231
G alpha (i) signalling events pathway
REACT_19327
G alpha (s) signalling events pathway
REACT_19333
G alpha (z) signalling events pathway
REACT_18377
Glucagon-type ligand receptors pathway
REACT_18372
Class B/2 (Secretin family receptors) pathway
REACT_18274
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion pathway
REACT_18325
Regulation of insulin secretion pathway
REACT_1946
PKA activation in glucagon signalling pathway
REACT_1665
Glucagon signaling in metabolic regulation pathway
REACT_1505
Integration of energy metabolism pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_228134
Signaling by Hedgehog pathway
REACT_14797
Signaling by GPCR pathway
REACT_111102
Signal Transduction pathway
REACT_19184
GPCR downstream signaling pathway
REACT_267634
Hedgehog 'off' state pathway
REACT_21340
GPCR ligand binding pathway
REACT_111217
Metabolism pathway
REACT_23887
Aquaporin-mediated transport pathway
REACT_604
Hemostasis pathway
REACT_242871
G alpha (s) signalling events pathway
REACT_231304
Glucagon-type ligand receptors pathway
REACT_223625
GPCR downstream signaling pathway
REACT_208483
Platelet homeostasis pathway
REACT_224553
Hemostasis pathway
REACT_254215
Signaling by GPCR pathway
REACT_210399
Glucagon signaling in metabolic regulation pathway
REACT_269412
Hedgehog 'off' state pathway
REACT_250061
Class B/2 (Secretin family receptors) pathway
REACT_217323
Integration of energy metabolism pathway
REACT_188937
Metabolism pathway
REACT_220758
PKA activation in glucagon signalling pathway
REACT_226335
Aquaporin-mediated transport pathway
REACT_263148
Regulation of insulin secretion pathway
REACT_262579
Prostacyclin signalling through prostacyclin receptor pathway
REACT_213947
Vasopressin regulates renal water homeostasis via Aquaporins pathway
REACT_231468
GPCR ligand binding pathway
REACT_258013
G alpha (z) signalling events pathway
REACT_253400
Transmembrane transport of small molecules pathway
REACT_250376
G alpha (i) signalling events pathway
REACT_250064
Signaling by Hedgehog pathway
REACT_188257
Signal Transduction pathway
REACT_248547
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion pathway
KEGG
hsa04912
GnRH signaling pathway pathway
hsa05110
Vibrio cholerae infection pathway
hsa04540
Gap junction pathway
hsa04742
Taste transduction pathway
hsa04730
Long-term depression pathway
hsa04020
Calcium signaling pathway pathway
hsa04916
Melanogenesis pathway
hsa04270
Vascular smooth muscle contraction pathway
hsa05414
Dilated cardiomyopathy pathway
hsa04962
Vasopressin-regulated water reabsorption pathway
hsa04971
Gastric acid secretion pathway
hsa05146
Amoebiasis pathway
hsa05142
Chagas disease (American trypanosomiasis) pathway
hsa04972
Pancreatic secretion pathway
hsa04970
Salivary secretion pathway
hsa04976
Bile secretion pathway
mmu04742
Taste transduction pathway
mmu04020
Calcium signaling pathway pathway
mmu04916
Melanogenesis pathway
mmu04540
Gap junction pathway
mmu04912
GnRH signaling pathway pathway
mmu04730
Long-term depression pathway
mmu04270
Vascular smooth muscle contraction pathway
mmu05414
Dilated cardiomyopathy pathway
mmu04962
Vasopressin-regulated water reabsorption pathway
mmu05146
Amoebiasis pathway
mmu04971
Gastric acid secretion pathway
mmu04970
Salivary secretion pathway
mmu04976
Bile secretion pathway
mmu04972
Pancreatic secretion pathway
mmu05142
Chagas disease (American trypanosomiasis) pathway
INOH
INOH website
GPCR Adenosine A2A receptor signaling pathway pathway
INOH website
GPCR Dopamine D1like receptor signaling pathway pathway
INOH website
GPCR signaling pathway
PID NCI
Cross-References
SwissProt P04896
TrEMBL F1N0T0 G1K1V2 G9BHS5
UniProt Splice Variant
Entrez Gene 281793
UniGene
RefSeq
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC102905 BC122757 DAAA02036326 DAAA02036327 DAAA02036328 HQ585496 M13006 M14014 X03404
GenPept AAA30557 AAA30560 AAI02906 AAI22758 AEA11434 CAA27137
RNA Seq Atlas 281793

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca