GNAO1
Function
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:29925951). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (By similarity). Signaling by an activated GPCR promotes GDP release and GTP binding (By similarity). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (By similarity). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (By similarity). Signaling is mediated via effector proteins, such as adenylate cyclase (By similarity). Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 17
DEE17
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with involuntary movements
NEDIM
A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Histaminylated at Gln-205 residues by TGM2.
Sequence Similarities
Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Cellular localization
- Cell membrane
- Membrane
- Lipid-anchor
Alternative names
Guanine nucleotide-binding protein G(o) subunit alpha, GNAO1