| Tag | Content |
|---|---|
| Uniprot ID | P60953; P21181; P25763; Q7L8R5; Q9UDI2; |
| Entrez ID | 998 |
| Genbank protein ID | AAM21110.1; AAM21109.1; AAA52592.1; CAB57325.1; AAH18266.1; AAH02711.1; AAH03682.1; AAT70721.1; AAA52494.1; CAB57326.1; |
| Genbank nucleotide ID | NM_001791.3; NM_044472.2; NM_001039802.1; |
| Ensembl protein ID | ENSP00000499457; ENSP00000383118; ENSP00000341072; ENSP00000499612; ENSP00000314458; ENSP00000497733; |
| Ensembl nucleotide ID | ENSG00000070831 |
| Gene name | Cell division control protein 42 homolog |
| Gene symbol | CDC42 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | 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). |
| Sequence | MQTIKCVVVG DGAVGKTCLL ISYTTNKFPS EYVPTVFDNY AVTVMIGGEP YTLGLFDTAG 60 QEDYDRLRPL SYPQTDVFLV CFSVVSPSSF ENVKEKWVPE ITHHCPKTPF LLVGTQIDLR 120 DDPSTIEKLA KNKQKPITPE TAEKLARDLK AVKYVECSAL TQKGLKNVFD EAILAALEPP 180 EPKKSRRCVL L 191 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
