GNAO1
Guanine nucleotide-binding protein G(o) subunit alpha
Also known as: G-ALPHA-o, GNAO_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P09471
- Gene
- GNAO1
- Ensembl
- ENSG00000087258
- Chromosome
- 16
- Canonical length
- 354 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
354 residues, UniProt reviewed canonical sequence.
>P09471|GNAO1
1 MGCTLSAEER AALERSKAIE KNLKEDGISA AKDVKLLLLG AGESGKSTIV KQMKIIHEDG
61 FSGEDVKQYK PVVYSNTIQS LAAIVRAMDT LGIEYGDKER KADAKMVCDV VSRMEDTEPF
121 SAELLSAMMR LWGDSGIQEC FNRSREYQLN DSAKYYLDSL DRIGAADYQP TEQDILRTRV
181 KTTGIVETHF TFKNLHFRLF DVGGQRSERK KWIHCFEDVT AIIFCVALSG YDQVLHEDET
241 TNRMHESLML FDSICNNKFF IDTSIILFLN KKDLFGEKIK KSPLTICFPE YTGPNTYEDA
301 AAYIQAQFES KNRSPNKEIY CHMTCATDTN NIQVVFDAVT DIIIANNLRG CGLYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GNAO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 133 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 133 nTPM
- cerebral cortex: 127 nTPM
- amygdala: 121 nTPM
- hippocampal formation: 107 nTPM
- cerebellum: 91 nTPM
- hypothalamus: 88 nTPM
Single-cell type
- oligodendrocytes: 623 nCPM
- bergmann glia: 458 nCPM
- retinal bipolar cells: 455 nCPM
- astrocytes: 298 nCPM
- thyrotrophs: 265 nCPM
- brain inhibitory neurons: 255 nCPM
Immune cell
- gdT-cell: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- cerebral cortex: 415 nTPM
- basal ganglia: 295 nTPM
- white matter: 278 nTPM
- thalamus: 272 nTPM
- amygdala: 261 nTPM
- hippocampal formation: 244 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GNAO1.
Disease | AllUniProt
Conditions GNAO1 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 17 (DEE17) MIM:615473
- Neurodevelopmental disorder with involuntary movements (NEDIM) MIM:617493
Disease | GeneticClinVar
100 pathogenic / likely-pathogenic of 583 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 17
- Early-infantile DEE
- Neurodevelopmental disorder with involuntary movements
- Inborn genetic diseases
- GNAO1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 3.19
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
- adenylate cyclase-inhibiting serotonin receptor signaling pathway
- adenylate cyclase-modulating G protein-coupled receptor signaling pathway
- G protein-coupled dopamine receptor signaling pathway
- locomotory behavior
- muscle contraction
- negative regulation of insulin secretion
- postsynaptic modulation of chemical synaptic transmission
- regulation of heart contraction
- vesicle docking involved in exocytosis
Molecular functions
- corticotropin-releasing hormone receptor 1 binding
- G protein activity
- G protein-coupled serotonin receptor binding
- G-protein beta/gamma-subunit complex binding
- GTP binding
- GTPase activity
- metal ion binding
- mu-type opioid receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GNAO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GNAO1 as an antibody target. Whether an autoantibody or antibody against GNAO1 could matter depends on whether native GNAO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GNAO1 is annotated at the cell surface, where native GNAO1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GNAO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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