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Comments and Description Text from UniProtKB
ID:GNAI3_HUMAN DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(k) subunit alpha; AltName: Full=G(i) alpha-3; FUNCTION: 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. SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with GPSM1. Interacts (via active GTP- or inactive GDP-bound form) with RGS14 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Cytoplasm, cytoskeleton, centrosome. Note=Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody. DISEASE: Defects in GNAI3 are the cause of auriculocondylar syndrome 1 (ARCND1) [MIM:602483]. 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. SIMILARITY: Belongs to the G-alpha family. G(i/o/t/z) subfamily.
ModBase Predicted Comparative 3D Structure on P08754
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