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For Research Use Only. Not For Clinical Use.
Disease related genes, Human disease related genes
Intracellular
Cell type enhanced (Oligodendrocytes, Late spermatids, Early spermatids, Spermatocytes)
Group enriched (plasmacytoid DC, myeloid DC, basophil, classical monocyte, intermediate monocyte, non-classical monocyte)
Low cell line specificity
Homodimer (PubMed:16139227). Interacts (via GBA motif) with guanine nucleotide-binding protein G(i) alpha subunits GNAI1, GNAI2 and GNAI3 (PubMed:19211784, PubMed:21954290, PubMed:23509302, PubMed:27621449, PubMed:31363053). Also interacts (via GNA motif) with guanine nucleotide-binding protein G(s) alpha subunit GNAS (PubMed:27621449). Interaction with G(i) alpha subunits occurs before interaction with GNAS and is regulated by phosphorylation; phosphorylation at Ser-1675 enhances binding to G(i) alpha subunits while phosphorylation at Ser-1690 abolishes G(i) alpha subunit binding, promoting binding to GNAS (PubMed:27621449). Interacts (via C-terminal SH2-like region) with growth factor receptors EGFR, INSR and KDR/VEGFR2 (via their autophosphorylated cytoplasmic tails) (PubMed:25187647). Forms a complex with EGFR and GNAI3 which leads to enhanced EGFR signaling and triggering of cell migration; ligand stimulation is required for recruitment of GNAI3 to the complex (PubMed:20462955, PubMed:25187647). Interacts (tyrosine-phosphorylated form) with phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1/p85a (via SH2 domains); the interaction enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290). Interacts with serine/threonine-protein kinase PRKCQ; the interaction leads to phosphorylation of CCDC88A and inhibition of its guanine nucleotide exchange factor activity (PubMed:23509302). Interacts (via C-terminus) with DISC1; the interaction is direct (By similarity). Interacts with AKT proteins; the interaction is inhibited in the presence of DISC1 (By similarity). Interacts with AKT1/PKB (via C-terminus) (PubMed:16139227). The non-phosphorylated form interacts with phosphatidylinositol 4-phosphate [PI(4)P] and weakly with phosphatidylinositol 3-phosphate [PI(3)P] (PubMed:16139227). Interacts with microtubules (By similarity). Interacts with actin (PubMed:16139227).
Guanine-nucleotide releasing factor