GNAI3

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway.

G protein subunit alpha i3

Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087).

Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087).

Stimulates the activity of receptor-regulated K+ channels (PubMed:2535845).

The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935).

Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway Source: UniProtKB
Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
Brain development Source: Ensembl
Cell cycle Source: UniProtKB-KW
Cell division Source: UniProtKB
Dopamine receptor signaling pathway Source: UniProtKB
GTP metabolic process Source: UniProtKB
Negative regulation of adenylate cyclase activity Source: ProtInc
Negative regulation of apoptotic signaling pathway Source: Ensembl
Positive regulation of macroautophagy Source: UniProtKB
Positive regulation of NAD(P)H oxidase activity Source: Ensembl
positive regulation of superoxide anion generation Source: Ensembl
Positive regulation of vascular associated smooth muscle cell proliferation Source: Ensembl
Vesicle fusion Source: Ensembl

Cell membrane; Cytoplasm; Centrosome. Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody.

Auriculocondylar syndrome 1 (ARCND1):
An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

(Microbial infection) Deamidated at Gln-204 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.