GNAI3 Antibody – Rabbit

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. [provided by RefSeq, Jun 2012]

G-alpha i3: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(k) is the stimulatory G protein of receptor- regulated K(+) channels. 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. Defects in GNAI3 are the cause of auriculocondylar syndrome 1 (ARCND1). ARCND1 is 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. Belongs to the G-alpha family. G(i/o/t/z) subfamily.

Protein type: G protein, heterotrimeric alpha G((i/o/t/z)); G protein; G protein, heterotrimeric

Chromosomal Location of Human Ortholog: 1p13

Cellular Component: Golgi apparatus; centrosome; membrane; lysosomal membrane; cytoplasm; plasma membrane; heterotrimeric G-protein complex; midbody; lipid raft

Molecular Function: GTPase activity; protein domain specific binding; signal transducer activity; GTP binding; metal ion binding; G-protein beta/gamma-subunit binding; GTPase activating protein binding; metabotropic serotonin receptor binding

Biological Process: G-protein signaling, coupled to cAMP nucleotide second messenger; vesicle fusion; synaptic transmission; platelet activation; metabolic process; cell division; transport; negative regulation of adenylate cyclase activity; G-protein signaling, adenylate cyclase inhibiting pathway; blood coagulation; cell cycle

Disease: Auriculocondylar Syndrome 1