ASAP3 Gene - ArfGAP with SH3 Domain, Ankyrin Repeat and PH Domain 3
Comprehensive genomic and functional annotation of ASAP3, a member of the BAR-PH domain protein family involved in membrane trafficking and cytoskeletal dynamics.
Gene Information Card
| Symbol | ASAP3 |
|---|---|
| Full Name | ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 55616 ncbi.nlm.nih.gov/gene/55616 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q8TDY4 |
| OMIM ID | 615153 |
| HGNC ID | 14987 |
| Aliases | ACAP4, CENTB4, KIAA1200 |
Description
ASAP3 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 3) encodes a member of the ASAP subfamily of ADP-ribosylation factor (Arf) GTPase-activating proteins. The protein contains an N-terminal BAR domain, a pleckstrin homology (PH) domain, an ArfGAP domain, ankyrin repeats, and a C-terminal SH3 domain. It functions in membrane tubulation, vesicle trafficking, and actin cytoskeleton remodeling. ASAP3 is implicated in cell migration, invasion, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell migration and invasion via Arf1/Arf5 inactivation | PMID: 21741933 |
| Lung cancer | Upregulation correlates with poor prognosis; regulates focal adhesion turnover | PMID: 25605248 |
| Gastric cancer | ASAP3 knockdown reduces proliferation and metastasis in vitro | PMID: 27058619 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Stomach | 15.1 | Medium |
| Colon | 6.7 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 18.4 | High expression |
| MCF7 (breast cancer) | 7.1 | Moderate expression |
| HeLa (cervical cancer) | 5.6 | Low expression |
| HEK293 (embryonic kidney) | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1846C>T (p.Arg616Trp) | Missense | 0.01% (gnomAD) | Predicted damaging (SIFT) |
| c.2101_2102insA (p.Thr701Asnfs*5) | Frameshift | Rare (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants in ASAP3 are predicted to truncate the protein, likely impairing ArfGAP activity and membrane trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects; functional studies are lacking.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Arf6 signaling pathway
• Membrane trafficking (Reactome: R-HSA-199991)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
Protein Summary
ASAP3 is a multidomain protein (BAR-PH-ArfGAP-ankyrin-SH3) that acts as a GTPase-activating protein for Arf1 and Arf5. It localizes to the plasma membrane and endosomes, regulating membrane curvature, vesicle budding, and actin dynamics. Overexpression in several cancers suggests a role in tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASAP3 Knockout HEK293 Cell Line | EDJ-KQ12451 | Human | 55616 | Details Get a Quote |
| ASAP3 Knockout A-549 Cell Line | EDJ-KQ40097 | Human | 55616 | Details Get a Quote |
| ASAP3 Knockout HCT 116 Cell Line | EDJ-KQ41384 | Human | 55616 | Details Get a Quote |
| ASAP3 Knockout HeLa Cell Line | EDJ-KQ41385 | Human | 55616 | Details Get a Quote |
