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

Gene ID: 2775, updated on 28-Oct-2024

Summary

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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
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Genomic context

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See GNAO1 in Genome Data Viewer
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_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371281 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:56102252-56103451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56135990-56136490 Neighboring gene uncharacterized LOC102725116 Neighboring gene NANOG hESC enhancer GRCh37_chr16:56147097-56147598 Neighboring gene GNAO1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56226034-56226607 Neighboring gene GNAO1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56297649-56298217 Neighboring gene microRNA 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56311207-56311706 Neighboring gene Sharpr-MPRA regulatory region 182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56316059-56316608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56316609-56317156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56318360-56318881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56322213-56322875 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56337209-56337709 Neighboring gene NANOG hESC enhancer GRCh37_chr16:56339811-56340312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56346109-56347085 Neighboring gene Sharpr-MPRA regulatory region 3823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56379271-56379958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56382339-56382839 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56389828-56389987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10848 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56396251-56396424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56396447-56396947 Neighboring gene autocrine motility factor receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10849 Neighboring gene nudix hydrolase 21

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Identification of plasma biomarker candidates in glioblastoma using an antibody-array-based proteomic approach. Zupancic K, et al. Radiol Oncol, 2014 Sep. PMID 25177240, Free PMC Article
  2. Up-regulation in late pregnancy of both Go1 alpha and Go2 alpha isoforms in human myometrium. Zumbihl R, et al. Eur J Pharmacol, 1994 Dec 15. PMID 7705473
  3. Identification and expression of Go1 and Go2 alpha-subunit transcripts in human myometrium in relation to pregnancy. Duc-Goiran P, et al. Biol Reprod, 1999 Jun. PMID 10330115
  4. The down-regulation of GNAO1 and its promoting role in hepatocellular carcinoma. Pei X, et al. Biosci Rep, 2013 Sep 17. PMID 23984917, Free PMC Article
  5. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Nakamura K, et al. Am J Hum Genet, 2013 Sep 5. PMID 23993195, Free PMC Article

See all (140) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Neomorphic Galphao mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
    Title: Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
  4. 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.
  5. 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.
  6. Visual Function in Children with GNAO1-Related Encephalopathy.
    Title: Visual Function in Children with GNAO1-Related Encephalopathy.
  7. Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
    Title: Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
  8. G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.
    Title: G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1.
  9. Highlighting the Dystonic Phenotype Related to GNAO1.
    Title: Highlighting the Dystonic Phenotype Related to GNAO1.
  10. GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma.
    Title: GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (39)

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

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)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686O0962

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

  1. NG_042800.1 RefSeqGene

    Range
    5151..171106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    56191489..56357444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

RNA

  1. XR_007064866.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    61986534..62152480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380080.1 → XP_054236055.1  guanine nucleotide-binding protein G(o) subunit alpha isoform X1

RNA

  1. XR_008489074.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P09471.4 GenPept UniProtKB/Swiss-Prot:P09471

Gene LinkOut

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