CDC42

CDC42 (Cell Division Cycle 42) is a Protein Coding gene. Diseases associated with CDC42 include Takenouchi-Kosaki Syndrome and Temperature-Sensitive Lethal Mutation. Among its related pathways are Development EGFR signaling via small GTPases and RANK Signaling in Osteoclasts. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase binding. An important paralog of this gene is RAC1.

Cell Division Cycle 42

Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase (PubMed:15642749).
Regulates cell migration (PubMed:17038317).
In neurons, plays a role in the extension and maintenance of the formation of filopodia, thin and actin-rich surface projections (PubMed:14978216).
Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. Facilitates filopodia formation upon DOCK11-activation (By similarity).
Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity).
Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups (PubMed:26465210).

Actin cytoskeleton organization Source: UniProtKB
Actin filament branching Source: Ensembl
Actin filament organization Source: UniProtKB
Adherens junction organization Source: Ensembl
Blood coagulation Source: Reactome
Cardiac conduction system development Source: Ensembl
Cdc42 protein signal transduction Source: GO_Central
Cell junction assembly Source: UniProtKB
Cell migration Source: GO_Central
Cell projection assembly Source: GO_Central
Cellular protein localization Source: Ensembl
Cellular response to interferon-gamma Source: Ensembl
Dendritic cell migration Source: Ensembl
Dendritic spine morphogenesis Source: UniProtKB
Endocytosis Source: GO_Central
Ephrin receptor signaling pathway Source: Reactome
Establishment of epithelial cell apical/basal polarity Source: UniProtKB
Establishment of Golgi localization Source: BHF-UCL
Establishment or maintenance of cell polarity Source: UniProtKB
Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
Filopodium assembly Source: Ensembl
Golgi organization Source: BHF-UCL
Heart contraction Source: Ensembl
Integrin-mediated signaling pathway Source: BHF-UCL
Interleukin-12-mediated signaling pathway Source: Reactome
Macrophage differentiation Source: UniProtKB
Modification of synaptic structure Source: GO_Central
Negative regulation of epidermal growth factor receptor signaling pathway Source: Reactome
Negative regulation of protein-containing complex assembly Source: UniProtKB
Neuron fate determination Source: Ensembl
Neuropilin signaling pathway Source: BHF-UCL
Nuclear migration Source: Ensembl
Organelle transport along microtubule Source: BHF-UCL
Phagocytosis, engulfment Source: UniProtKB
Positive regulation of actin cytoskeleton reorganization Source: BHF-UCL
Positive regulation of cell growth Source: AgBase
Positive regulation of cytokinesis Source: UniProtKB
Positive regulation of DNA replication Source: Ensembl
Positive regulation of epithelial cell proliferation involved in lung morphogenesis Source: Ensembl
Positive regulation of filopodium assembly Source: BHF-UCL
Positive regulation of intracellular protein transport Source: Ensembl
Positive regulation of JNK cascade Source: Ensembl
Positive regulation of lamellipodium assembly Source: CAFA
Positive regulation of muscle cell differentiation Source: Reactome
Positive regulation of neuron apoptotic process Source: Ensembl
Positive regulation of phosphatidylinositol 3-kinase activity Source: Ensembl
Positive regulation of pinocytosis Source: UniProtKB
Positive regulation of pseudopodium assembly Source: UniProtKB
Positive regulation of stress fiber assembly Source: BHF-UCL
Positive regulation of substrate adhesion-dependent cell spreading Source: UniProtKB
Positive regulation of synapse structural plasticity Source: Ensembl
Regulation of attachment of spindle microtubules to kinetochore Source: UniProtKB
Regulation of filopodium assembly Source: UniProtKB
Regulation of lamellipodium assembly Source: CAFA
Regulation of mitotic nuclear division Source: Ensembl
Regulation of modification of postsynaptic structure Source: Ensembl
Regulation of protein binding Source: Ensembl
Regulation of small GTPase mediated signal transduction Source: Reactome
Regulation of stress fiber assembly Source: CAFA
Sprouting angiogenesis Source: Ensembl
Submandibular salivary gland formation Source: Ensembl
Substantia nigra development Source: UniProtKB
T cell costimulation Source: Reactome
Vascular endothelial growth factor receptor signaling pathway Source: Reactome
Viral RNA genome replication Source: ParkinsonsUK-UCL
Wnt signaling pathway, planar cell polarity pathway Source: ParkinsonsUK-UCL

Centrosome; Spindle; Cell membrane; Midbody; Dendrite. Localizes to spindle during prometaphase cells. Moves to the central spindle as cells progressed through anaphase to telophase (PubMed:15642749). Localizes at the end of cytokinesis in the intercellular bridge formed between two daughter cells (PubMed:15642749). Its localization is regulated by the activities of guanine nucleotide exchange factor ECT2 and GTPase activating protein RACGAP1 (PubMed:15642749). Colocalizes with NEK6 in the centrosome (PubMed:20873783). In its active GTP-bound form localizes to the leading edge membrane of migrating dendritic cells (By similarity).

Takenouchi-Kosaki syndrome (TKS): A syndrome characterized by macrothrombocytopenia, lymphedema, mental retardation, developmental delay, and distinctive facial features.

(Microbial infection) AMPylation at Tyr-32 and Thr-35 are mediated by bacterial enzymes in case of infection by H.somnus and V.parahaemolyticus, respectively. AMPylation occurs in the effector region and leads to inactivation of the GTPase activity by preventing the interaction with downstream effectors, thereby inhibiting actin assembly in infected cells. It is unclear whether some human enzyme mediates AMPylation; FICD has such ability in vitro but additional experiments remain to be done to confirm results in vivo.
Phosphorylated by SRC in an EGF-dependent manner, this stimulates the binding of the Rho-GDP dissociation inhibitor RhoGDI.
(Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of CDC42 and leads to actin disassembly.
(Microbial infection) Glucosylated at Thr-35 by C.difficile toxins TcdA and TcdB in the colonic epithelium (PubMed:7777059, PubMed:7775453, PubMed:24905543). Monoglucosylation completely prevents the recognition of the downstream effector, blocking the GTPases in their inactive form, leading to actin cytoskeleton disruption and cell death, resulting in the loss of colonic epithelial barrier function (PubMed:7777059, PubMed:7775453).
(Microbial infection) Glycosylated (O-GlcNAcylated) at Thr-35 by C.novyi toxin TcdA (PubMed:8810274). O-GlcNAcylation completely prevents the recognition of the downstream effector, blocking the GTPases in their inactive form, leading to actin cytoskeleton disruption (PubMed:8810274).