InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GNAS

Summary

InnateDB Gene

IDBG-82827.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GNAS

Gene Name

GNAS complex locus

Synonyms

AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH

Species

Homo sapiens

Ensembl Gene

ENSG00000087460

Encoded Proteins

IDBP-82829

GNAS complex locus

IDBP-82831

GNAS complex locus

IDBP-82833

GNAS complex locus

IDBP-82835

GNAS complex locus

IDBP-82839

GNAS complex locus

IDBP-82841

GNAS complex locus

IDBP-82843

GNAS complex locus

IDBP-82845

GNAS complex locus

IDBP-82847

GNAS complex locus

IDBP-82849

GNAS complex locus

IDBP-82851

GNAS complex locus

IDBP-82855

GNAS complex locus

IDBP-82859

GNAS complex locus

IDBP-82861

GNAS complex locus

IDBP-82863

GNAS complex locus

IDBP-379522

GNAS complex locus

IDBP-379524

GNAS complex locus

IDBP-379652

GNAS complex locus

IDBP-379654

GNAS complex locus

IDBP-809442

GNAS complex locus

IDBP-809465

GNAS complex locus

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]
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 20:58839718-58911192

Strand

Forward strand

Band

q13.32

Transcripts

ENST00000313949	ENSP00000323571
ENST00000306120	ENSP00000302237
ENST00000371102	ENSP00000360143
ENST00000371100	ENSP00000360141
ENST00000371099	ENSP00000360140
ENST00000306090	ENSP00000304472
ENST00000371098	ENSP00000360139
ENST00000371095	ENSP00000360136
ENST00000349036	ENSP00000265621
ENST00000371085	ENSP00000360126
ENST00000265620	ENSP00000265620
ENST00000371081	ENSP00000360122
ENST00000338783	ENSP00000345971
ENST00000354359	ENSP00000346328
ENST00000371075	ENSP00000360115
ENST00000453292	ENSP00000392000
ENST00000419558	ENSP00000416234
ENST00000450130	ENSP00000412424
ENST00000423897	ENSP00000412356
ENST00000491348
ENST00000472183
ENST00000482112
ENST00000462499
ENST00000490374
ENST00000493744
ENST00000467227
ENST00000464624
ENST00000481768
ENST00000464960
ENST00000488546
ENST00000481039
ENST00000468895
ENST00000467321
ENST00000477931
ENST00000485673
ENST00000470512
ENST00000464788
ENST00000469431
ENST00000478585
ENST00000480975
ENST00000480232
ENST00000484504
ENST00000461152
ENST00000488652
ENST00000476935
ENST00000492907
ENST00000483387
ENST00000487862
ENST00000496934
ENST00000476196
ENST00000494081
ENST00000487981
ENST00000493958
ENST00000479025
ENST00000475610
ENST00000604005	ENSP00000474219
ENST00000603546	ENSP00000474802

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	52 [view]
Protein-Protein	51 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0003924	GTPase activity
GO:0004016	adenylate cyclase 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:0006171	cAMP biosynthetic process
GO:0006184	GTP catabolic process
GO:0006306	DNA methylation
GO:0006833	water transport
GO:0007165	signal transduction
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007190	activation of adenylate cyclase activity
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007565	female pregnancy
GO:0007596	blood coagulation
GO:0007606	sensory perception of chemical stimulus
GO:0007608	sensory perception of smell
GO:0009306	protein secretion
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:0040015	negative regulation of 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:0044281	small molecule metabolic process
GO:0045669	positive regulation of osteoblast differentiation
GO:0045672	positive regulation of osteoclast differentiation
GO:0046907	intracellular transport
GO:0048589	developmental growth
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0050796	regulation of insulin secretion
GO:0050890	cognition
GO:0051216	cartilage development
GO:0055085	transmembrane transport
GO:0060348	bone development
GO:0060789	hair follicle placode formation
GO:0070527	platelet aggregation
GO:0071107	response to parathyroid hormone
GO:0071377	cellular response to glucagon stimulus
GO:0071380	cellular response to prostaglandin E stimulus
GO:0071514	genetic imprinting
GO:0071870	cellular response to catecholamine stimulus
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway

Cellular Component

GO:0001726	ruffle
GO:0005576	extracellular region
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005834	heterotrimeric G-protein complex
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0030133	transport vesicle
GO:0030425	dendrite
GO:0031224	intrinsic component of membrane
GO:0032588	trans-Golgi network membrane
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome