Gnas GNAS complex locus [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnasprovided by MGI
Official Full Name: GNAS complex locusprovided by MGI
Primary source: MGI:MGI:95777
See related: Ensembl:ENSMUSG00000027523 AllianceGenome:MGI:95777
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P1; P2; P3; GSP; Gsa; POH; GPSA; Nesp; SCG6; Gnas1; Nespl; PHP1A; PHP1B; Gnasxl; Nesp55; Oedsml; Galphas; Oed-Sml; Gs-alpha; 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 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, which 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. Additional 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, Jun 2015]
Expression: Ubiquitous expression in limb E14.5 (RPKM 151.3), cerebellum adult (RPKM 99.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 97.89 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (174126113..174188537)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (174284320..174346744)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GNAS mutations suppress cell invasion by activating MEG3 in growth hormone-secreting pituitary adenoma.
Title: GNAS mutations suppress cell invasion by activating MEG3 in growth hormone-secreting pituitary adenoma.
Gsalpha Regulates Macrophage Foam Cell Formation During Atherosclerosis.
Title: Gsα Regulates Macrophage Foam Cell Formation During Atherosclerosis.
Diurnal regulation of metabolism by Gs-alpha in hypothalamic QPLOT neurons.
Title: Diurnal regulation of metabolism by Gs-alpha in hypothalamic QPLOT neurons.
GPR176 Promotes Cancer Progression by Interacting with G Protein GNAS to Restrain Cell Mitophagy in Colorectal Cancer.
Title: GPR176 Promotes Cancer Progression by Interacting with G Protein GNAS to Restrain Cell Mitophagy in Colorectal Cancer.
Gnas Loss Causes Chondrocyte Fate Conversion in Cranial Suture Formation.
Title: Gnas Loss Causes Chondrocyte Fate Conversion in Cranial Suture Formation.
Gsalpha-dependent signaling is required for postnatal establishment of a functional beta-cell mass.
Title: Gsα-dependent signaling is required for postnatal establishment of a functional β-cell mass.
Deletion of Galphaq/11 or Galphas Proteins in Gonadotropes Differentially Affects Gonadotropin Production and Secretion in Mice.
Title: Deletion of Gαq/11 or Gαs Proteins in Gonadotropes Differentially Affects Gonadotropin Production and Secretion in Mice.
Gqalpha/G11alpha deficiency in dorsomedial hypothalamus leads to obesity resulting from decreased energy expenditure and impaired sympathetic nerve activity.
Title: G(q)α/G(11)α deficiency in dorsomedial hypothalamus leads to obesity resulting from decreased energy expenditure and impaired sympathetic nerve activity.
Gs/Gq signaling switch in beta cells defines incretin effectiveness in diabetes.
Title: Gs/Gq signaling switch in β cells defines incretin effectiveness in diabetes.
depleted GNAS exerts an inhibitory role in osteogenic differentiation of mesenchymal stem cells by activating Hippo signaling pathway.
Title: GNAS knockdown suppresses osteogenic differentiation of mesenchymal stem cells via activation of Hippo signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (111)

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (19) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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
enables D1 dopamine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables D1 dopamine receptor binding	ISO Inferred from Sequence Orthology more info
enables G protein activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables G-protein alpha-subunit binding	ISO Inferred from Sequence Orthology more info
enables G-protein beta-subunit binding	ISO Inferred from Sequence Orthology more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables adenylate cyclase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables adenylate cyclase activator activity	ISO Inferred from Sequence Orthology more info
enables adenylate cyclase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables adenylate cyclase regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alkylglycerophosphoethanolamine phosphodiesterase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
enables beta-2 adrenergic receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-2 adrenergic receptor binding	ISO Inferred from Sequence Orthology more info
enables corticotropin-releasing hormone receptor 1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables corticotropin-releasing hormone receptor 1 binding	ISO Inferred from Sequence Orthology more info
enables insulin-like growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables insulin-like growth factor receptor binding	ISO Inferred from Sequence Orthology more info
enables ionotropic glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables mu-type opioid receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables mu-type opioid receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adenylate cyclase-activating dopamine receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in bone development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to catecholamine stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucagon stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to prostaglandin E stimulus	ISO Inferred from Sequence Orthology more info
involved_in cognition	ISO Inferred from Sequence Orthology more info
involved_in developmental growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within energy reserve metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within genomic imprinting	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hair follicle placode formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of blood pressure	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet aggregation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of parathyroid hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signal transduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in response to parathyroid hormone	IEA Inferred from Electronic Annotation more info
involved_in response to parathyroid hormone	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of chemical stimulus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tissue homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in COPI-coated Golgi to ER transport vesicle	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heterotrimeric G-protein complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network membrane	ISO Inferred from Sequence Orthology more info
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein ALEX; protein GNAS; protein SCG6 (secretogranin VI)

Names: GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus; Gs alpha subunit; adenylate cyclase-stimulating G alpha protein; alternative gene product encoded by XL-exon; extra large alphas protein; neuroendocrine secretory protein 55; secretogranin VI; stimulatory G-protein alpha subunit

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_001077507.2 → 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, compared to variant 7. It encodes isoform f (also known as XLas), which has a longer and distinct N-terminus and lacks an internal segment, compared to isoform GNASL. Isoform f is the neuroendocrine-specific G-protein alpha subunit.

Source sequence(s)

AF116268, AK030489, AL593857, BU516278

Consensus CDS

CCDS38354.1

UniProtKB/Swiss-Prot

Q6R0H6, Q6R0H7

Related

ENSMUSP00000085184.5, ENSMUST00000087876.11

Conserved Domains (2) summary

cd00066
Location:780 → 1113

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

smart00275
Location:759 → 1116

G_alpha; G protein alpha subunit
NM_001077510.5 → NP_001070978.1 protein GNAS isoform GNASS

See identical proteins and their annotated locations for NP_001070978.1

Status: REVIEWED

Description

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

Source sequence(s)

AK159563, AL593857, BC062654, BU054033, DV057819

Consensus CDS

CCDS38357.1

UniProtKB/Swiss-Prot

P63094

Related

ENSMUSP00000104713.2, ENSMUST00000109085.8

Conserved Domains (1) summary

cd00066
Location:41 → 374

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001310083.1 → NP_001297012.1 protein GNAS isoform GNASL

See identical proteins and their annotated locations for NP_001297012.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR, compared to variant 7. Variants 7 and 10 encode the same isoform guanine nucleotide binding protein alpha-s long (GNASL, also known as alpha-S2), a form of the G-protein alpha subunit.

Source sequence(s)

BC062654, BM944582, BU516278

Consensus CDS

CCDS38356.1

UniProtKB/Swiss-Prot

A2A611, A2A612, A2A613, P63094, Q3KQM5, Q3TFV3, Q3TWS9, Q3UI70, Q58E62, Q6P7U9, Q80ZK6, Q8K5E1, Q9Z1R7

Related

ENSMUSP00000085179.5, ENSMUST00000087871.11

Conserved Domains (1) summary

cd00066
Location:41 → 388

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001310085.1 → NP_001297014.1 protein GNAS isoform XXLb2

See identical proteins and their annotated locations for NP_001297014.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) is paternally expressed and includes an alternate 5' exon structure, compared to variant 7. This variant is reported in PMID:15148396. It encodes isoform XXLb2, which has a distinct and shorter C-terminus, compared to isoform XLas.

Source sequence(s)

AK030489, AK132636, AL593857, BU516278

Consensus CDS

CCDS89590.1

UniProtKB/Swiss-Prot

Q6R0H6, Q6R0H7

Related

ENSMUSP00000158758.2, ENSMUST00000154658.8

Conserved Domains (2) summary

smart00275
Location:759 → 786

G_alpha; G protein alpha subunit

PRK12323
Location:330 → 531

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001364030.1 → NP_001350959.1 protein ALEX isoform i

Status: REVIEWED

Source sequence(s)

AL593857

Consensus CDS

CCDS89591.1

UniProtKB/TrEMBL

Z4YKV1

Related

ENSMUSP00000104712.2, ENSMUST00000109084.8

Conserved Domains (1) summary

cd00066
Location:41 → 373

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_010309.4 → NP_034439.2 protein GNAS isoform XLas

See identical proteins and their annotated locations for NP_034439.2

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, compared to variant 7. This variant includes two overlapping open reading frames encoding distinct isoforms XLas and Alex, respectively. This RefSeq represents the isoform XLas (also known as alpha sXXL), which is a neuroendocrine-specific G-protein alpha subunit. It has a distinct and longer N-terminus, compared to isoform GNASL.

Source sequence(s)

AK132636, AL593857, BU516278

Consensus CDS

CCDS17151.1

UniProtKB/Swiss-Prot

A2A607, A2A608, Q6R0H4, Q6R0H5, Q6R0H7, Q6R2J5, Q9JJX0, Q9Z1N8

Related

ENSMUSP00000140174.2, ENSMUST00000185956.7

Conserved Domains (2) summary

cd00066
Location:780 → 1127

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

smart00275
Location:759 → 1130

G_alpha; G protein alpha subunit
NM_019690.3 → NP_062664.2 protein SCG6 (secretogranin VI) isoform SCG6 precursor

See identical proteins and their annotated locations for NP_062664.2

Status: REVIEWED

Description

Transcript Variant: This variant (4) is maternally expressed. It lacks several 3' exons and has alternate 5' and 3' exons, compared to variant 7. Variants 3 and 4 both encode isoform secretogranin VI (SCG6, also known as 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 SCG6 has no similarity to isoforms of the G-protein alpha subunit. This variant has an antisense transcript NESPAS.

Source sequence(s)

AJ010163, AL593857, AV353621, BB632851, BX636499, BY600941, BY718446, CF730992

Consensus CDS

CCDS17149.1

UniProtKB/Swiss-Prot

Q9QXW5, Q9Z0F1, Q9Z0H2

Related

ENSMUSP00000136180.2, ENSMUST00000180362.8

Conserved Domains (1) summary

pfam06390
Location:1 → 253

NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
NM_022000.3 → NP_068840.2 protein SCG6 (secretogranin VI) isoform SCG6 precursor

See identical proteins and their annotated locations for NP_068840.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) is maternally expressed and has alternate 5' exons, compared to variant 7. Variants 3 and 4 both encode isoform secretogranin VI (SCG6, also known as 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 SCG6 has no similarity to isoforms of the G-protein alpha subunit. This variant has an antisense transcript NESPAS.

Source sequence(s)

AJ010163, AK039035, AK132636, BU516278

Consensus CDS

CCDS17149.1

UniProtKB/Swiss-Prot

Q9QXW5, Q9Z0F1, Q9Z0H2

Related

ENSMUSP00000104724.3, ENSMUST00000109096.9

Conserved Domains (1) summary

pfam06390
Location:1 → 253

NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
NM_201616.3 → NP_963910.1 protein GNAS isoform GNASL

See identical proteins and their annotated locations for NP_963910.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) is biallelically expressed and encodes guanine nucleotide binding protein alpha-s long (GNASL) isoform, also known as alpha-S2, a form of the G-protein alpha subunit. Variants 7 and 10 encode the same isoform (GNASL).

Source sequence(s)

AK159563, AK168996, AL593857, BU516278, CK625094

Consensus CDS

CCDS38356.1

UniProtKB/Swiss-Prot

A2A611, A2A612, A2A613, P63094, Q3KQM5, Q3TFV3, Q3TWS9, Q3UI70, Q58E62, Q6P7U9, Q80ZK6, Q8K5E1, Q9Z1R7

Related

ENSMUSP00000104715.2, ENSMUST00000109087.8

Conserved Domains (1) summary

cd00066
Location:41 → 388

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_201617.2 → NP_963911.1 protein GNAS isoform XXLb1

See identical proteins and their annotated locations for NP_963911.1

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. This variant is based on data in PMID:15148396.

Source sequence(s)

AK030489, AL593857

Consensus CDS

CCDS38355.1

UniProtKB/Swiss-Prot

Q6R0H6, Q6R0H7

Related

ENSMUSP00000085185.5, ENSMUST00000087877.11

Conserved Domains (2) summary

smart00275
Location:759 → 786

G_alpha; G protein alpha subunit

PRK12323
Location:330 → 531

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_201618.2 → NP_963912.1 protein ALEX isoform Alex

See identical proteins and their annotated locations for NP_963912.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, compared to variant 7. This variant includes two overlapping open reading frames encoding XLas and Alex, respectively. This RefSeq represents isoform 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, BU516278

Consensus CDS

CCDS50817.1

UniProtKB/Swiss-Prot

A6PW72, Q6R0H6, Q8BIR3

Related

ENSMUSP00000139839.2, ENSMUST00000186907.7

Conserved Domains (1) summary

PHA03247
Location:380 → 674

PHA03247; large tegument protein UL36; Provisional

RNA

NR_003258.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9, also known as Exon1A) is paternally expressed and has two alternate 5' exons, 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)

AL593857

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

174126113..174188537

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498778.3 → XP_006498841.1 protein GNAS isoform X4

Conserved Domains (1) summary

cd00066
Location:5 → 341

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_006498777.2 → XP_006498840.1 protein GNAS isoform X3

Conserved Domains (1) summary

cd00066
Location:5 → 357

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_006498780.2 → XP_006498843.1 protein GNAS isoform X7

Conserved Domains (3) summary

cd00066
Location:780 → 1112

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

PHA03247
Location:50 → 496

PHA03247; large tegument protein UL36; Provisional

PRK12323
Location:330 → 531

PRK12323; DNA polymerase III subunit gamma/tau
XM_017315658.2 → XP_017171147.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A571BEI3

Related

ENSMUSP00000158707.2, ENSMUST00000156623.8

Conserved Domains (1) summary

cd00066
Location:1 → 329

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_030247568.1 → XP_030103428.1 protein GNAS isoform X2

UniProtKB/Swiss-Prot

A2A611, A2A612, A2A613, P63094, Q3KQM5, Q3TFV3, Q3TWS9, Q3UI70, Q58E62, Q6P7U9, Q80ZK6, Q8K5E1, Q9Z1R7

Conserved Domains (1) summary

cd00066
Location:41 → 388

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_030247569.2 → XP_030103429.1 protein GNAS isoform X6

Conserved Domains (1) summary

cd00066
Location:1 → 314

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_006498774.3 → XP_006498837.1 protein GNAS isoform X1

Conserved Domains (1) summary

cd00066
Location:41 → 389

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RNA

XR_374414.4 RNA Sequence
XR_003950807.2 RNA Sequence

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

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