CAP1 (Cyclase Associated Actin Cytoskeleton Regulatory Protein 1)
Gene encoding an actin-binding protein involved in cytoskeletal dynamics and cell signaling.
Gene Information Card
| Symbol | CAP1 |
|---|---|
| Full Name | Cyclase Associated Actin Cytoskeleton Regulatory Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 10487 ncbi.nlm.nih.gov/gene/10487 |
| Ensembl ID | ENSG00000133019 |
| UniProt ID | Q01518 |
| OMIM ID | 601424 |
| HGNC ID | 20040 |
| Aliases | CAP, CAP1-PEN, MGC104539 |
Description
CAP1 (Cyclase Associated Actin Cytoskeleton Regulatory Protein 1) encodes a member of the cyclase-associated protein family. The protein is an actin-binding protein that regulates actin filament dynamics and is involved in cell signaling, particularly through interaction with adenylyl cyclase. CAP1 is widely expressed and plays roles in cell migration, adhesion, and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CAP1 promotes cell migration and invasion via actin remodeling and signaling pathways. | PMID: 25944712 |
| Colorectal cancer | CAP1 upregulation correlates with poor prognosis and enhanced metastatic potential. | PMID: 27498980 |
| Hepatocellular carcinoma | CAP1 overexpression associated with tumor progression and metastasis. | PMID: 29351290 |
| Lung cancer | CAP1 expression linked to increased cell motility and invasion. | PMID: 27121328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Kidney | 9.5 | Low |
| Testis | 20.4 | High |
| Spleen | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 14.2 | Lung cancer cell line |
| MCF7 | 22.1 | Breast cancer cell line |
| HepG2 | 16.3 | Hepatocellular carcinoma cell line |
| HEK293 | 11.7 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown functional effect |
| c.1120_1121insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1120_1121insA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CAP1.
Dominant Negative (DN)
No evidence for dominant-negative effects in CAP1.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • ATP binding (GO:0005524) |
| • actin cytoskeleton organization (GO:0030036) | • cell migration (GO:0016477) |
| • signal transduction (GO:0007165) |
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663205)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
CAP1 is a 475-amino acid protein (UniProt Q01518) that localizes to the cytoplasm and cell cortex. It binds actin monomers and filaments, regulating actin dynamics by promoting cofilin-mediated actin depolymerization. CAP1 also interacts with adenylyl cyclase, linking cAMP signaling to cytoskeletal reorganization. Overexpression in multiple cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAP1 Knockout HEK293 Cell Line | EDJ-KQ7063 | Human | 10487 | Details Get a Quote |
| CAP1 Knockout HeLa Cell Line | EDJ-KQ30496 | Human | 10487 | Details Get a Quote |
| CAP1 Knockout HCT 116 Cell Line | EDJ-KQ31874 | Human | 10487 | Details Get a Quote |
| CAP1 Knockout A-549 Cell Line | EDJ-KQ63898 | Human | 10487 | Details Get a Quote |
