CDC42
Cell division control protein 42 homolog
Also known as: CDC42_HUMAN, CDC42Hs, G25K
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P60953
- Gene
- CDC42
- Ensembl
- ENSG00000070831
- Chromosome
- 1
- Canonical length
- 191 aa
- Protein class
- Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins
- Subcellular location
- Microtubules,Cytokinetic bridge
OverviewNCBI Gene
The protein encoded by this gene 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. [provided by RefSeq, Apr 2013]
Canonical amino-acid sequenceUniProt
191 residues, UniProt reviewed canonical sequence.
>P60953|CDC42
1 MQTIKCVVVG DGAVGKTCLL ISYTTNKFPS EYVPTVFDNY AVTVMIGGEP YTLGLFDTAG
61 QEDYDRLRPL SYPQTDVFLV CFSVVSPSSF ENVKEKWVPE ITHHCPKTPF LLVGTQIDLR
121 DDPSTIEKLA KNKQKPITPE TAEKLARDLK AVKYVECSAL TQKGLKNVFD EAILAALEPP
181 EPKKSRRCVL LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDC42 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 237 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 237 nTPM
- esophagus: 142 nTPM
- spinal cord: 135 nTPM
- skin: 127 nTPM
- hypothalamus: 119 nTPM
- adipose tissue: 114 nTPM
Single-cell type
- papillary tip epithelial cells: 153 nCPM
- other brain neurons: 130 nCPM
- microglia: 123 nCPM
- renal collecting duct principal cells: 107 nCPM
- oligodendrocytes: 97 nCPM
- renal collecting duct intercalated cells: 91 nCPM
Immune cell
- neutrophil: 141 nTPM
- non-classical monocyte: 138 nTPM
- basophil: 114 nTPM
- intermediate monocyte: 111 nTPM
- eosinophil: 96 nTPM
- total PBMC: 73 nTPM
Brain region
- hypothalamus: 128 nTPM
- white matter: 125 nTPM
- pons: 123 nTPM
- medulla oblongata: 117 nTPM
- choroid plexus: 112 nTPM
- midbrain: 111 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDC42.
Disease | AllUniProt
Conditions CDC42 is implicated in, by any mechanism.
- Takenouchi-Kosaki syndrome (TKS) MIM:616737
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 155 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Neurodevelopmental abnormality
- Abnormality of the immune system
- Postnatal growth retardation
- Abnormal facial shape
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.5
- gnomAD pLI
- 0.79
- gnomAD missense Z
- 3.04
- DepMap mean gene effect
- -1.03
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- actin filament organization
- adherens junction organization
- cardiac conduction system development
- cardiac neural crest cell migration involved in outflow tract morphogenesis
- cell junction assembly
- cellular response to type II interferon
- dendritic cell migration
- dendritic spine morphogenesis
- embryonic heart tube development
- endocytosis
- endothelin receptor signaling pathway involved in heart process
- establishment of cell polarity
- establishment of epithelial cell apical/basal polarity
- establishment of Golgi localization
- establishment or maintenance of cell polarity
- filopodium assembly
- Golgi organization
- heart contraction
- host-mediated perturbation of viral process
- integrin-mediated signaling pathway
- intracellular protein localization
- macrophage differentiation
- negative regulation of protein-containing complex assembly
- neuron fate determination
- neuropilin signaling pathway
- nuclear migration
- organelle transport along microtubule
- phagocytosis, engulfment
- positive regulation of cell growth
- positive regulation of cell migration
- positive regulation of cytokinesis
- positive regulation of epithelial cell proliferation involved in lung morphogenesis
- positive regulation of filopodium assembly
- positive regulation of lamellipodium assembly
- positive regulation of MAPK cascade
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of pinocytosis
- positive regulation of pseudopodium assembly
- positive regulation of stress fiber assembly
- positive regulation of substrate adhesion-dependent cell spreading
- regulation of actin cytoskeleton organization
- regulation of attachment of spindle microtubules to kinetochore
- regulation of filopodium assembly
- regulation of lamellipodium assembly
- regulation of mitotic nuclear division
- regulation of postsynapse organization
- regulation of stress fiber assembly
- signal transduction
- small GTPase-mediated signal transduction
- substantia nigra development
- Wnt signaling pathway, planar cell polarity pathway
Molecular functions
- apolipoprotein A-I receptor binding
- G protein activity
- GBD domain binding
- GTP binding
- GTP-dependent protein binding
- GTPase activity
- identical protein binding
- protein kinase binding
- thioesterase binding
- ubiquitin protein ligase activity
Cellular components
- apical part of cell
- cell-cell junction
- centrosome
- cytoplasm
- cytoplasmic ribonucleoprotein granule
- cytosol
- dendrite
- endoplasmic reticulum membrane
- extracellular exosome
- filopodium
- focal adhesion
- glutamatergic synapse
- Golgi membrane
- Golgi transport complex
- leading edge membrane
- membrane
- midbody
- mitotic spindle
- neuron projection
- neuronal cell body
- phagocytic vesicle
- plasma membrane
- postsynapse
- protein-containing complex
- spindle midzone
- storage vacuole
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDC42 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CDC42 as an antibody target. Whether an autoantibody or antibody against CDC42 could matter depends on whether native CDC42 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDC42 is annotated at the cell surface, where native CDC42 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CDC42 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...