AlphaFold predicted structure
GNAI1 · P63096
Mean pLDDT
93.8/ 100
Very high
354 residues
Confidence breakdown
- Very high(≥ 90)86%
- Confident(70–90)11%
- Low(50–70)3%
- Very low(< 50)1%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GNAI1
Chr 7q21.11G protein subunit alpha i1
- MANE:
- ENST00000649796.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
0.74polycystic ovary syndrome
0.47hereditary disease
0.41complex neurodevelopmental disorder
0.37neurodegenerative disease
0.32neurodevelopmental disorder
0.32bacterial pneumonia
0.31Liver abscess
0.29Seizure
0.27Neurodevelopmental abnormality
0.26
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Guanine nucleotide-binding protein G(i) subunit alpha-1
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:18434541, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:38552625, PubMed:8774883, PubMed:38918398, PubMed:40080544). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:18434541, PubMed:8774883). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:18434541, PubMed:8774883). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (PubMed:18434541, PubMed:8774883). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:18434541, PubMed:8774883). Signaling is mediated via effector proteins, such as adenylate cyclase: inhibits adenylate cyclase activity of ADCY1, ADCY5 and ADCY6, leading to decreased intracellular cAMP levels (PubMed:8119955). The inactive GDP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. Required for normal cytokinesis during mitosis (PubMed:17635935). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364)
Diseases associated with GNAI1
Curated MONDO disease pages that list GNAI1 among their top associated genes.