CDC42EP1
CDC42 Effector Protein 1
Gene Information Card
| Symbol | CDC42EP1 |
|---|---|
| Full Name | CDC42 effector protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 11135 ncbi.nlm.nih.gov/gene/11135 |
| Ensembl ID | ENSG00000100263 |
| UniProt ID | Q00587 |
| OMIM ID | 605462 |
| HGNC ID | 1702 |
| Aliases | BORG1, CEP1, MSE55 |
Description
CDC42EP1 (CDC42 effector protein 1) encodes a member of the CDC42 effector protein family. The protein binds to and regulates the activity of the small GTPase CDC42, playing a role in cytoskeletal organization, cell polarity, and cell migration. It is also known as BORG1 (binder of Rho GTPases 1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect CDC42-mediated signaling and cytoskeletal dynamics | COSMIC database reports mutations in multiple cancer types |
| No specific Mendelian disease association | Not established | OMIM and ClinVar do not list pathogenic variants for inherited disorders |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Kidney | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| A549 | 7.8 | Low expression |
| MCF7 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | missense | 0.02% (COSMIC) | Unknown functional impact |
| c.205G>A (p.Glu69Lys) | missense | 0.01% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established for CDC42EP1
Gain of Function (GOF)
Not established for CDC42EP1
Dominant Negative (DN)
Not established for CDC42EP1
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • actin cytoskeleton organization (GO:0030036) | • cell division (GO:0051301) |
| • regulation of actin cytoskeleton organization (GO:0032956) |
Pathways
• CDC42 signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
CDC42EP1 is a 321-amino acid protein that contains a CRIB (Cdc42/Rac interactive binding) domain. It localizes to the cytoplasm and interacts with CDC42 to regulate actin cytoskeleton dynamics, influencing cell shape, motility, and division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42EP1 Knockout HEK293 Cell Line | EDJ-KQ3070 | Human | 11135 | Details Get a Quote |
| CDC42EP1 Knockout A-549 Cell Line | EDJ-KQ24345 | Human | 11135 | Details Get a Quote |
| CDC42EP1 Knockout HCT 116 Cell Line | EDJ-KQ24346 | Human | 11135 | Details Get a Quote |
| CDC42EP1 Knockout HeLa Cell Line | EDJ-KQ24347 | Human | 11135 | Details Get a Quote |
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