GNAO1 G protein subunit alpha o1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNAO1provided by HGNC
Official Full Name: G protein subunit alpha o1provided by HGNC
Primary source: HGNC:HGNC:4389
See related: Ensembl:ENSG00000087258 MIM:139311; AllianceGenome:HGNC:4389
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GNAO; HG1G; DEE17; NEDIM; EIEE17; HLA-DQB1; G-ALPHA-o
Summary: The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Expression: Biased expression in brain (RPKM 43.5), testis (RPKM 4.7) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (56191489..56357444)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (61986534..62152480)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (56225401..56391356)

Chromosome 16 - NC_000016.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Title: Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
CircGNAO1 suppresses hepatocellular carcinoma progression and metastasis via sponging miR-182-5p and regulating FOXO1 expression.
Title: CircGNAO1 suppresses hepatocellular carcinoma progression and metastasis via sponging miR-182-5p and regulating FOXO1 expression.
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.
Neomorphic Galphao mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Title: Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Title: Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Title: Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Visual Function in Children with GNAO1-Related Encephalopathy.
Title: Visual Function in Children with GNAO1-Related Encephalopathy.
Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
Title: Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.
Title: G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.
Highlighting the Dystonic Phenotype Related to GNAO1.
Title: Highlighting the Dystonic Phenotype Related to GNAO1.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 17 MedGen: C3809606 OMIM: 615473 GeneReviews: GNAO1-Related Disorder	Compare labs
Neurodevelopmental disorder with involuntary movements MedGen: C4479569 OMIM: 617493 GeneReviews: GNAO1-Related Disorder	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-05-10) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-05-10) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Coimmunoprecipitation experiments indicate HIV-1 Nef binds to non-palmitoylated G(o)alpha, presumably outside caveolin-rich micro domains of the plasma membrane	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S434E (e-PCR)
- UniSTS:2821

D16S408 (e-PCR), detects polymorphism
- UniSTS:19980

D16S2786 (e-PCR)
- UniSTS:153356

SHGC-152262 (e-PCR)
- UniSTS:177450

RH71386 (e-PCR)
- UniSTS:29529

SHGC-106383 (e-PCR)
- UniSTS:169830

SHGC-79158 (e-PCR)
- UniSTS:95856

D16S736 (e-PCR)
- UniSTS:1652

SHGC-151028 (e-PCR)
- UniSTS:173192

SHGC-151169 (e-PCR)
- UniSTS:173454

D16S317 (e-PCR)
- UniSTS:147095

D16S408 (e-PCR), detects polymorphism
- UniSTS:24999

RH68394 (e-PCR)
- UniSTS:36522

D16S3140 (e-PCR)
- UniSTS:60588

D16S2698 (e-PCR)
- UniSTS:153268

D16S2699 (e-PCR)
- UniSTS:153269

G10169 (e-PCR)
- UniSTS:61393

D16S434E (e-PCR)
- UniSTS:147420

PMC19731P1 (e-PCR)
- UniSTS:271857

D16S434E (e-PCR)
- UniSTS:9726

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	ISS Inferred from Sequence or Structural Similarity more info
enables G protein-coupled serotonin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenylate cyclase regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables corticotropin-releasing hormone receptor 1 binding	IBA Inferred from Biological aspect of Ancestor 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-inhibiting serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in vesicle docking involved in exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in cell body	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	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	IDA Inferred from Direct Assay more info	PubMed
located_in parallel fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: GO2-q chimeric G-protein; guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O; guanine nucleotide-binding regulatory protein 2; 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.

Genomic

NG_042800.1 RefSeqGene

Range

5151..171106

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020988.3 → NP_066268.1 guanine nucleotide-binding protein G(o) subunit alpha isoform a

See identical proteins and their annotated locations for NP_066268.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes isoform a.

Source sequence(s)

AC009102, AK056008, BC030027, DA529437

Consensus CDS

CCDS10756.1

UniProtKB/Swiss-Prot

P09471, P29777, Q8TD72, Q9UMV4

UniProtKB/TrEMBL

B3KP89

Related

ENSP00000262493.6, ENST00000262493.12

Conserved Domains (1) summary

cd00066
Location:34 → 348

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_138736.3 → NP_620073.2 guanine nucleotide-binding protein G(o) subunit alpha isoform b

See identical proteins and their annotated locations for NP_620073.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) is the same length but has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AF493895, AK056008, AL512686, BC030027, BX647214, DA115582, DA529437

Consensus CDS

CCDS10757.1

UniProtKB/TrEMBL

A0A142CHG9

Related

ENSP00000262494.7, ENST00000262494.13

Conserved Domains (1) summary

cd00066
Location:34 → 348

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

56191489..56357444

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523003.4 → XP_011521305.1 guanine nucleotide-binding protein G(o) subunit alpha isoform X1

UniProtKB/TrEMBL

Q8N6I9

Conserved Domains (2) summary

cd00066
Location:12 → 306

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

pfam00503
Location:12 → 301

G-alpha; G-protein alpha subunit