Gnao1 guanine nucleotide binding protein, alpha O [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnao1provided by MGI
Official Full Name: guanine nucleotide binding protein, alpha Oprovided by MGI
Primary source: MGI:MGI:95775
See related: Ensembl:ENSMUSG00000031748 AllianceGenome:MGI:95775
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gnao; Hg1g; alphaO; Galphao
Summary: Enables G protein activity and GTP binding activity. Involved in negative regulation of insulin secretion and postsynaptic modulation of chemical synaptic transmission. Acts upstream of with a negative effect on vesicle docking involved in exocytosis. Acts upstream of or within G protein-coupled dopamine receptor signaling pathway; locomotory behavior; and regulation of heart contraction. Located in cell body and dendrite. Is active in several cellular components, including GABA-ergic synapse; parallel fiber to Purkinje cell synapse; and synaptic membrane. Is expressed in several structures, including alimentary system; brain; ganglia; genitourinary system; and sensory organ. Used to study developmental and epileptic encephalopathy 17 and neurodevelopmental disorder with involuntary movements. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 17 and neurodevelopmental disorder with involuntary movements. Orthologous to human GNAO1 (G protein subunit alpha o1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cortex adult (RPKM 40.0), frontal lobe adult (RPKM 39.2) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C5; 8 45.94 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (94537213..94696016)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (93810153..93969388)

Chromosome 8 - NC_000074.7 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
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?

AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice.
Title: AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice.
The Schwann cell-specific G-protein Galphao (Gnao1) is a cell-intrinsic controller contributing to the regulation of myelination in peripheral nerve system.
Title: The Schwann cell-specific G-protein Gαo (Gnao1) is a cell-intrinsic controller contributing to the regulation of myelination in peripheral nerve system.
The regulatory role of Gnao1 protein in diabetic encephalopathy in KK-Ay mice and streptozotocin-induced diabetic rats.
Title: The regulatory role of Gnao1 protein in diabetic encephalopathy in KK-Ay mice and streptozotocin-induced diabetic rats.
Mice with monoallelic GNAO1 loss exhibit reduced inhibitory synaptic input to cerebellar Purkinje cells.
Title: Mice with monoallelic GNAO1 loss exhibit reduced inhibitory synaptic input to cerebellar Purkinje cells.
Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.
Title: Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.
NRSF-GNAO1 Pathway Contributes to the Regulation of Cardiac Ca(2+) Homeostasis.
Title: NRSF-GNAO1 Pathway Contributes to the Regulation of Cardiac Ca(2+) Homeostasis.
Mice Expressing Regulators of G protein Signaling-insensitive Galphao Define Roles of mu Opioid Receptor Galphao and Galphai Subunit Coupling in Inhibition of Presynaptic GABA Release.
Title: Mice Expressing Regulators of G protein Signaling-insensitive Gαo Define Roles of μ Opioid Receptor Gαo and Gαi Subunit Coupling in Inhibition of Presynaptic GABA Release.
Inhibitory signaling in mammalian olfactory transduction potentially mediated by Galphao.
Title: Inhibitory signaling in mammalian olfactory transduction potentially mediated by Gα(o).
GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.
Title: GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.
Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone.
Title: Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

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

Endonuclease-mediated (8) 1 citation
Targeted (14) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH139637 (e-PCR)
- UniSTS:221721

Gnao1 (e-PCR), detects polymorphism
- UniSTS:496673

Gnao1 (e-PCR), detects polymorphism
- UniSTS:496674

Gnao1 (e-PCR), detects polymorphism
- UniSTS:506941

AW050213 (e-PCR)
- UniSTS:179782

RH143789 (e-PCR)
- UniSTS:233035

RH68394 (e-PCR)
- UniSTS:36522

NoName (e-PCR)
- UniSTS:235968

PMC19731P1 (e-PCR)
- UniSTS:271857

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled serotonin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled serotonin receptor 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	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTPase activating protein 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
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
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 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 signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in G protein-coupled dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within G protein-coupled dopamine receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in adenylate cyclase-inhibiting serotonin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect vesicle docking involved in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
is_active_in parallel fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: guanine nucleotide-binding protein G(o) subunit alpha

Names: GTP-binding protein alpha-o subunit; Go alpha; heterotrimeric guanine nucleotide-binding protein 1g

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_001113384.2 → NP_001106855.1 guanine nucleotide-binding protein G(o) subunit alpha isoform B

See identical proteins and their annotated locations for NP_001106855.1

Status: VALIDATED

Description

Transcript Variant: This variant (B) includes alternate exons in the 3' coding region, compared to variant a, resulting in isoform b (also known as G0B-alpha) that has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AC102398, AC138118

Consensus CDS

CCDS85585.1

UniProtKB/Swiss-Prot

P18872

Related

ENSMUSP00000148550.2, ENSMUST00000138659.9

Conserved Domains (2) summary

cd00066
Location:34 → 348

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

smart00275
Location:14 → 352

G_alpha; G protein alpha subunit
NM_001414907.1 → NP_001401836.1 guanine nucleotide-binding protein G(o) subunit alpha isoform A

Status: VALIDATED

Source sequence(s)

AC102398, AC138118

UniProtKB/Swiss-Prot

P18872, P18873

UniProtKB/TrEMBL

Q543S2

Related

ENSMUSP00000114144.2, ENSMUST00000125716.8
NM_001414908.1 → NP_001401837.1 guanine nucleotide-binding protein G(o) subunit alpha isoform C

Status: VALIDATED

Source sequence(s)

AC102398, AC138118
NM_010308.4 → NP_034438.1 guanine nucleotide-binding protein G(o) subunit alpha isoform A

See identical proteins and their annotated locations for NP_034438.1

Status: VALIDATED

Description

Transcript Variant: This variant (A) represents the shorter transcript and encodes isoform a, also known as G0A-alpha.

Source sequence(s)

AC102398, AC138118

Consensus CDS

CCDS22532.1

UniProtKB/Swiss-Prot

P18872, P18873

UniProtKB/TrEMBL

Q543S2

Related

ENSMUSP00000034198.9, ENSMUST00000034198.15

Conserved Domains (1) summary

cd00066
Location:34 → 348

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