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Guanine nucleotide-binding protein G(o) subunit alpha structure
P09471
GNAO_HUMAN
GNAO1

Guanine nucleotide-binding protein G(o) subunit alpha

Homo sapiensTaxon: 9606

3D-structureADP-ribosylationAlternative splicingCell membraneDisease variantEpilepsyGTP-bindingHydrolaseLipoproteinMagnesiumMembraneMetal-binding+6
序列长度

354

氨基酸

分子量

40.1 kDa

理论值

实验结构

50

PDB 条目

相关疾病

2

已记录

功能描述

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:29925951, PubMed:33408414). 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)

相关疾病

Developmental and epileptic encephalopathy 17

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.

Neurodevelopmental disorder with involuntary movements

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.

氨基酸序列

MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG
FSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPF
SAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRV
KTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET

FASTA 格式 · 354 个氨基酸 · 分子量 40.1 kDa

实验结构

50 PDB 条目
6FUF6G796K416OIK6WWZ7D767D777EJ07EJ87EJA7EJK7QVM7T8X7T907T947T967W2Z7W6P7W7E7XJJ7Y248DZQ8E9X8FN18HPT8HQC8I958I978I9L8I9S8IA28IEC8IED8IY98IYH8IYW8J6D8JER8JHN8JZP8JZZ8TZQ8U028XWV8XX38XX68XX78XXH8XXR8XXX

翻译后修饰

  • •Histaminylated at Gln-205 residues by TGM2
  • •Palmitoylated at Cys-351, leading to binding to ADGRG3