Background | The protein encoded by RAC1 is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene.The RAC1 P29S mutation is the third most common protein-coding hotspot mutation in melanomas, ocurring in 4-9%. A preclinical study has shown that this mutation confers resistance to BRAF inhibition in-vitro. RAC2 encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. RAC2 (Ras-Related C3 Botulinum Toxin Substrate 2 (Rho Family, Small GTP Binding Protein Rac2)) is a Protein Coding gene. Diseases associated with RAC2 include Neutrophil Immunodeficiency Syndrome and Retinitis Pigmentosa 47. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Bisphosphonate Pathway, Pharmacodynamics. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAC1. The protein encoded by RAC3 is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants.RAC3 (Ras-Related C3 Botulinum Toxin Substrate 3 (Rho Family, Small GTP Binding Protein Rac3)) is a Protein Coding gene. Among its related pathways are Bisphosphonate Pathway, Pharmacodynamics and GPCR Pathway. GO annotations related to this gene include GTP binding and calcium-dependent protein binding. An important paralog of this gene is RAC1. The protein encoded by CDC42 is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. CDC42 (Cell Division Cycle 42) is a Protein Coding gene. Diseases associated with CDC42 include Takenouchi-Kosaki Syndrome and Wiskott-Aldrich Syndrome. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Bisphosphonate Pathway, Pharmacodynamics. GO annotations related to this gene include identical protein binding and protein kinase binding. An important paralog of this gene is RAC1. |