ACAP1: ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 1
A GTPase-activating protein regulating membrane trafficking and cell adhesion
Gene Information Card
| Symbol | ACAP1 |
|---|---|
| Full Name | ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 9744 ncbi.nlm.nih.gov/gene/9744 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q15027 |
| OMIM ID | 607862 |
| HGNC ID | 16458 |
| Aliases | CENTB1, KIAA0821 |
Description
ACAP1 encodes a GTPase-activating protein (GAP) that specifically regulates ADP-ribosylation factor (Arf) small GTPases, particularly Arf1 and Arf6. The protein contains an N-terminal coiled-coil domain, a central ArfGAP domain, a pleckstrin homology (PH) domain, and C-terminal ankyrin repeats. ACAP1 functions in membrane trafficking, endocytosis, and cell adhesion by inactivating Arf proteins through GTP hydrolysis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ACAP1 overexpression promotes cell migration and invasion via Arf6 regulation | PMID: 23201123 |
| Prostate cancer | ACAP1 expression correlates with metastatic potential and poor prognosis | PMID: 25605247 |
| Hepatocellular carcinoma | ACAP1 upregulation enhances tumor growth and metastasis through Arf1/Arf6 signaling | PMID: 30356099 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 15.1 | Medium |
| Testis | 22.4 | High |
| Placenta | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown functional impact |
| c.1456C>T (p.Arg486Trp) | Missense | <0.01% | Reported in COSMIC as likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role, but no specific activating mutations identified.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Arf GTPase binding |
| • phosphatidylinositol binding | • endocytosis |
| • cell adhesion | • regulation of Arf protein signal transduction |
Pathways
• Arf6 signaling events
• Clathrin-mediated endocytosis
• Integrin signaling
Protein Summary
ACAP1 is a 739-amino-acid protein with a molecular weight of approximately 84 kDa. It localizes to the cytoplasm and plasma membrane, where it acts as a GAP for Arf1 and Arf6. The protein is involved in recycling of integrins and other membrane proteins, thereby regulating cell migration and adhesion. Its expression is elevated in several cancers and correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAP1 Knockout HEK293 Cell Line | EDJ-KQ6724 | Human | 9744 | Details Get a Quote |
| ACAP1 Knockout A-549 Cell Line | EDJ-KQ31108 | Human | 9744 | Details Get a Quote |
| ACAP1 Knockout HCT 116 Cell Line | EDJ-KQ31109 | Human | 9744 | Details Get a Quote |
| ACAP1 Knockout HeLa Cell Line | EDJ-KQ31110 | Human | 9744 | Details Get a Quote |
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