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Aliases for GNAO1 Gene

Aliases for GNAO1 Gene

  • G Protein Subunit Alpha O1 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Activating Activity Polypeptide O 2 3 5
  • GO2-Q Chimeric G-Protein 3
  • G-ALPHA-O 3
  • EIEE17 3
  • GNAO 3

External Ids for GNAO1 Gene

Previous GeneCards Identifiers for GNAO1 Gene

  • GC16P046608
  • GC16P056277
  • GC16P055961
  • GC16P056001
  • GC16P056000
  • GC16P054783
  • GC16P042096

Summaries for GNAO1 Gene

Entrez Gene Summary for GNAO1 Gene

  • 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]

GeneCards Summary for GNAO1 Gene

GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene. Diseases associated with GNAO1 include epileptic encephalopathy, early infantile, 17 and ohtahara syndrome. Among its related pathways are Signaling by GPCR and Transport to the Golgi and subsequent modification. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot for GNAO1 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.

Tocris Summary for GNAO1 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAO1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAO1 Gene

Genomics for GNAO1 Gene

Regulatory Elements for GNAO1 Gene

Promoters for GNAO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNAO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNAO1 Gene

Chromosome:
16
Start:
56,191,339 bp from pter
End:
56,357,444 bp from pter
Size:
166,106 bases
Orientation:
Plus strand

Genomic View for GNAO1 Gene

Genes around GNAO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAO1 Gene

Proteins for GNAO1 Gene

  • Protein details for GNAO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09471-GNAO_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(o) subunit alpha
    Protein Accession:
    P09471
    Secondary Accessions:
    • P29777
    • Q8TD72
    • Q9UMV4

    Protein attributes for GNAO1 Gene

    Size:
    354 amino acids
    Molecular mass:
    40051 Da
    Quaternary structure:
    • Interacts with RGS14 (By similarity). G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

    Alternative splice isoforms for GNAO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNAO1 Gene

Proteomics data for GNAO1 Gene at MOPED

Post-translational modifications for GNAO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNAO1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GNAO1 (G alpha(o))

No data available for DME Specific Peptides for GNAO1 Gene

Domains & Families for GNAO1 Gene

Suggested Antigen Peptide Sequences for GNAO1 Gene

Graphical View of Domain Structure for InterPro Entry

P09471

UniProtKB/Swiss-Prot:

GNAO_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAO1: view

No data available for Gene Families for GNAO1 Gene

Function for GNAO1 Gene

Molecular function for GNAO1 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha activating,polypeptide O
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.

Gene Ontology (GO) - Molecular Function for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031683 G-protein beta/gamma-subunit complex binding IEA,IBA --
GO:0031852 mu-type opioid receptor binding IEA,IBA --
GO:0051430 corticotropin-releasing hormone receptor 1 binding IEA,IBA --
genes like me logo Genes that share ontologies with GNAO1: view
genes like me logo Genes that share phenotypes with GNAO1: view

Human Phenotype Ontology for GNAO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAO1 Gene

MGI Knock Outs for GNAO1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAO1 Gene

Localization for GNAO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAO1 Gene

Cell membrane. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNAO1 Gene COMPARTMENTS Subcellular localization image for GNAO1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with GNAO1: view

Pathways & Interactions for GNAO1 Gene

genes like me logo Genes that share pathways with GNAO1: view

SIGNOR curated interactions for GNAO1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006936 muscle contraction TAS 9050846
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA,IBA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
genes like me logo Genes that share ontologies with GNAO1: view

Drugs & Compounds for GNAO1 Gene

(3) Drugs for GNAO1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAO1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAO1 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAO1: view

Transcripts for GNAO1 Gene

Unigene Clusters for GNAO1 Gene

Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GNAO1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - -
SP8:
SP9: - - -

Relevant External Links for GNAO1 Gene

GeneLoc Exon Structure for
GNAO1
ECgene alternative splicing isoforms for
GNAO1

Expression for GNAO1 Gene

mRNA expression in normal human tissues for GNAO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNAO1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.5), Brain - Caudate (basal ganglia) (x4.1), and Brain - Amygdala (x4.0).

Protein differential expression in normal tissues from HIPED for GNAO1 Gene

This gene is overexpressed in Frontal cortex (22.7), Brain (19.5), Retina (8.1), and Fetal Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNAO1 Gene



SOURCE GeneReport for Unigene cluster for GNAO1 Gene Hs.644524

genes like me logo Genes that share expression patterns with GNAO1: view

Protein tissue co-expression partners for GNAO1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GNAO1 Gene

Orthologs for GNAO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNAO1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNAO1 35
  • 95.29 (n)
  • 99.15 (a)
GNAO1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAO1 35
  • 95.76 (n)
  • 100 (a)
GNAO1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnao1 35
  • 93.79 (n)
  • 98.02 (a)
Gnao1 16
Gnao1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNAO1 35
  • 99.91 (n)
  • 100 (a)
GNAO1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnao1 35
  • 94.16 (n)
  • 98.59 (a)
oppossum
(Monodelphis domestica)
Mammalia GNAO1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAO1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNAO1 35
  • 88.51 (n)
  • 98.31 (a)
GNAO1 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAO1 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnao1 35
  • 84.46 (n)
  • 98.59 (a)
Str.4190 35
African clawed frog
(Xenopus laevis)
Amphibia gnao1-A 35
zebrafish
(Danio rerio)
Actinopterygii gnao1a 35
  • 82.58 (n)
  • 95.76 (a)
zgc73315 35
gnao1a 36
  • 91 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta G-ialpha65A 37
  • 65 (a)
G-oalpha47A 37
  • 82 (a)
G-oalpha47A 35
  • 71.09 (n)
  • 83.05 (a)
G-oalpha47A 36
  • 83 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005773 35
  • 68.84 (n)
  • 76.42 (a)
worm
(Caenorhabditis elegans)
Secernentea goa-1 37
  • 82 (a)
gpa-1 37
  • 47 (a)
gpa-10 37
  • 35 (a)
gpa-11 37
  • 40 (a)
gpa-14 37
  • 31 (a)
gpa-15 37
  • 45 (a)
gpa-2 37
  • 45 (a)
gpa-3 37
  • 53 (a)
gpa-4 37
  • 54 (a)
gpa-6 37
  • 40 (a)
gpa-7 37
  • 56 (a)
gpa-8 37
  • 39 (a)
gpa-9 37
  • 36 (a)
odr-3 37
  • 50 (a)
goa-1 35
  • 70.9 (n)
  • 82.2 (a)
goa-1 36
  • 83 (a)
OneToMany
Species with no ortholog for GNAO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAO1 Gene

ENSEMBL:
Gene Tree for GNAO1 (if available)
TreeFam:
Gene Tree for GNAO1 (if available)

Paralogs for GNAO1 Gene

Paralogs for GNAO1 Gene

genes like me logo Genes that share paralogs with GNAO1: view

Variants for GNAO1 Gene

Sequence variations from dbSNP and Humsavar for GNAO1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_070864 Epileptic encephalopathy, early infantile, 17 (EIEE17)
VAR_070866 Epileptic encephalopathy, early infantile, 17 (EIEE17)
VAR_070867 Epileptic encephalopathy, early infantile, 17 (EIEE17)
VAR_075416 Epileptic encephalopathy, early infantile, 17 (EIEE17)
rs899227 -- 56,353,557(-) AGCCA(C/T)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GNAO1 Gene

Variant ID Type Subtype PubMed ID
dgv2865n71 CNV Gain 21882294
esv272874 CNV Insertion 20981092
nsv833242 CNV Loss 17160897
nsv906714 CNV Loss 21882294
esv2714509 CNV Deletion 23290073
nsv519979 CNV Loss 19592680
nsv906715 CNV Loss 21882294
nsv523649 CNV Loss 19592680
nsv521726 CNV Loss 19592680
dgv2870n71 CNV Loss 21882294
nsv906717 CNV Loss 21882294
nsv519346 CNV Loss 19592680
nsv525929 CNV Loss 19592680

Variation tolerance for GNAO1 Gene

Residual Variation Intolerance Score: 10% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAO1 Gene

HapMap Linkage Disequilibrium report
GNAO1
Human Gene Mutation Database (HGMD)
GNAO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAO1 Gene

Disorders for GNAO1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GNAO1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 17
  • eiee17
ohtahara syndrome
  • epileptic encephalopathy, early infantile, 15
encephalopathy
  • brain diseases
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards
Search GNAO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAO_HUMAN
  • Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]: A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements. {ECO:0000269 PubMed:23993195, ECO:0000269 PubMed:26485252}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAO1

Genetic Association Database (GAD)
GNAO1
Human Genome Epidemiology (HuGE) Navigator
GNAO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNAO1
genes like me logo Genes that share disorders with GNAO1: view

No data available for Genatlas for GNAO1 Gene

Publications for GNAO1 Gene

  1. De Novo mutations in GNAO1, encoding a GI+o subunit of heterotrimeric G proteins, cause epileptic encephalopathy. (PMID: 23993195) Nakamura K. … Saitsu H. (Am. J. Hum. Genet. 2013) 3 4 67
  2. Binding of G alpha(o) N terminus is responsible for the voltage-resistant inhibition of alpha(1A) (P/Q-type, Ca(v)2.1) Ca(2+) channels. (PMID: 11395521) Kinoshita M. … Kaneko S. (J. Biol. Chem. 2001) 2 3
  3. Different forms of Go alpha mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16. (PMID: 1899283) Murtagh J.J. … Vaughan M. (Mol. Cell. Biol. 1991) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. (PMID: 25966631) Saitsu H. … Matsumoto N. (Eur. J. Hum. Genet. 2015) 3

Products for GNAO1 Gene

Sources for GNAO1 Gene

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