ACAP3: ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 3
A GTPase-activating protein involved in vesicle trafficking and cell signaling
Gene Information Card
| Symbol | ACAP3 |
|---|---|
| Full Name | ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 116983 ncbi.nlm.nih.gov/gene/116983 |
| Ensembl ID | ENSG00000131584 |
| UniProt ID | Q96P50 |
| OMIM ID | 614764 |
| HGNC ID | 23323 |
| Aliases | CENTB5, KIAA1716 |
Description
ACAP3 encodes a member of the ACAP family of ArfGAP proteins that contain an N-terminal coiled-coil domain, central ankyrin repeats, a PH domain, and a C-terminal ArfGAP domain. The protein functions as a GTPase-activating protein (GAP) for ADP-ribosylation factor (Arf) small GTPases, regulating vesicle trafficking and actin cytoskeleton dynamics. ACAP3 is involved in endocytosis, cell migration, and neurite outgrowth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of ACAP3 may impair neuronal vesicle trafficking and signaling | ClinVar: pathogenic variants reported in patients with neurodevelopmental disorders |
| Autism spectrum disorder | Rare copy number variants involving ACAP3 have been associated with ASD | ClinVar: CNV deletions reported |
| Cancer (general) | Altered expression may affect cell proliferation and migration | COSMIC: somatic mutations found in various cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Heart | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| SH-SY5Y | 15.7 | High expression in neuronal cells |
| HeLa | 7.5 | Low expression |
| A549 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation of GAP domain |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature termination |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Unknown; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking functional domains, impairing ArfGAP activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effects from missense variants disrupting dimerization or domain interactions.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Arf GTPase activator activity |
| • vesicle-mediated transport | • endocytosis |
| • actin cytoskeleton organization | • cell migration |
| • neurite development | • Golgi organization |
Pathways
• Arf6 signaling pathway
• Endocytosis
• Vesicle trafficking
Protein Summary
ACAP3 is a 739-amino acid protein that acts as a GTPase-activating protein for Arf6, converting it to the inactive GDP-bound form. It contains an N-terminal coiled-coil domain for dimerization, ankyrin repeats for protein-protein interactions, a PH domain for membrane targeting, and a C-terminal GAP domain. The protein localizes to the plasma membrane and endosomes, regulating clathrin-independent endocytosis and cell adhesion. In neurons, ACAP3 promotes neurite outgrowth by modulating Arf6 activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAP3 Knockout HEK293 Cell Line | EDJ-KQ7589 | Human | 116983 | Details Get a Quote |
| ACAP3 Knockout HCT 116 Cell Line | EDJ-KQ32921 | Human | 116983 | Details Get a Quote |
| ACAP3 Knockout HeLa Cell Line | EDC07716 | Human | 116983 | Details Get a Quote |
| ACAP3 Knockout A-549 Cell Line | EDJ-KQ31571 | Human | 116983 | Details Get a Quote |
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