GNAO1
entrez
2775
canonical
uniprot
P09471
canonical
ensembl
ENSG00000087258
resolver
ensp
ENSP00000262493
resolver
ensp
ENSP00000262494
resolver
genesymbol
GNAO1
resolver
hgnc
HGNC:4389
resolver
uniprot
B3KP89
resolver
uniprot
P29777
resolver
uniprot
Q8N6I9
resolver
uniprot
Q8TD72
resolver
uniprot
Q9UMV4
resolver
uniprot_entry
B3KP89_HUMAN
resolver
uniprot_entry
GNAO_HUMAN
resolver
uniprot_entry
Q8N6I9_HUMAN
resolver
uniprot_sec
P29777
resolver
uniprot_sec
Q8TD72
resolver
uniprot_sec
Q9UMV4
resolver
activity_regulation
ACTIVITY REGULATION: The GTPase activity is promoted by GTPAse activators, such as RGS14, RGS16 and RGS19 (By similarity). {ECO:0000250|UniProtKB:P18872}.
uniprot
proteins
amino_acid_sequence
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 17 (DEE17) [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:25966631, ECO:0000269|PubMed:26485252, ECO:0000269|PubMed:27476654, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:34685729}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493]: 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. {ECO:0000269|PubMed:25966631, ECO:0000269|PubMed:26060304, ECO:0000269|PubMed:27068059, ECO:0000269|PubMed:27625011, ECO:0000269|PubMed:28357411}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades, such as regulation of postsynaptic neurotransmitter release (PubMed:29925951, PubMed:33408414, PubMed:39103320). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:39103320). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:39103320). 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: GNAO1 acts by inhibiting the activity of adenylate cyclases, leading to decreased intracellular cAMP levels (By similarity). Plays a key role in postsynaptic inhibition of neurotransmitter release (By similarity). {ECO:0000250|UniProtKB:P18872, ECO:0000250|UniProtKB:P59215, ECO:0000269|PubMed:29925951, ECO:0000269|PubMed:33408414, ECO:0000269|PubMed:39103320}.
uniprot
proteins
mass_dalton
40051
uniprot
proteins
mutagenesis
MUTAGEN 46; /note="K->E: Abolishes guanine nucleotide binding and impairs responses of the associated receptors including OPRM1, DRD2, NTSR1 and ADRB2."; /evidence="ECO:0000269|PubMed:39103320"; MUTAGEN 351; /note="C->A: Strong loss of binding to ADGRG3."; /evidence="ECO:0000269|PubMed:33408414
uniprot
proteins
post_translational_modification
PTM: Histaminylated at Gln-205 residues by TGM2. {ECO:0000250|UniProtKB:P18872}.; PTM: Palmitoylated at Cys-351, leading to binding to ADGRG3. {ECO:0000269|PubMed:33408414}.
uniprot
proteins
protein_family
G(i/o/t/z) subfamily
uniprot
proteins
protein_family
G-alpha family
uniprot
proteins
pubmed
10330115
uniprot
proteins
pubmed
1901650
uniprot
proteins
pubmed
23993195
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
25966631
uniprot
proteins
pubmed
26060304
uniprot
proteins
pubmed
26485252
uniprot
proteins
pubmed
27068059
uniprot
proteins
pubmed
27476654
uniprot
proteins
pubmed
27625011
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28357411
uniprot
proteins
pubmed
29390993
uniprot
proteins
pubmed
29925951
uniprot
proteins
pubmed
3124840
uniprot
proteins
pubmed
33408414
uniprot
proteins
pubmed
34685729
uniprot
proteins
pubmed
39103320
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:34685729}; Peripheral membrane protein {ECO:0000269|PubMed:33408414}; Cytoplasmic side {ECO:0000269|PubMed:33408414}. Note=Associated to the plasma membrane via lipid-anchor. {ECO:0000269|PubMed:33408414}.
uniprot
proteins