ASAP1 Gene - ArfGAP with SH3 Domain, Ankyrin Repeat and PH Domain 1
Comprehensive genomic and proteomic analysis of ASAP1, a key regulator of cell migration and cancer progression.
Gene Information Card
| Symbol | ASAP1 |
|---|---|
| Full Name | ArfGAP with SH3 Domain, Ankyrin Repeat and PH Domain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.21 |
| NCBI Gene ID | 50807 ncbi.nlm.nih.gov/gene/50807 |
| Ensembl ID | ENSG00000104738 |
| UniProt ID | Q9ULH1 |
| OMIM ID | 605953 |
| HGNC ID | 17387 |
| Aliases | AMAP1, DDEF1, PAG2, CENTB4 |
Description
ASAP1 encodes a multi-domain protein that functions as a GTPase-activating protein (GAP) for ADP-ribosylation factor (Arf) family members. It contains an N-terminal BAR domain, a PH domain, an ArfGAP domain, ankyrin repeats, and a C-terminal SH3 domain. ASAP1 regulates cell migration, adhesion, and vesicle trafficking, and is implicated in cancer metastasis and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression promotes cell migration and invasion via ArfGAP activity and interaction with Src and FAK. | PMID: 15601830; COSMIC |
| Prostate Cancer | ASAP1 amplification and overexpression correlate with metastatic progression and poor prognosis. | PMID: 17016436; COSMIC |
| Glioblastoma | ASAP1 upregulation enhances tumor cell invasion through cytoskeletal remodeling. | PMID: 21804533; COSMIC |
| Lung Cancer | ASAP1 expression is associated with lymph node metastasis and reduced survival. | PMID: 23233750; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 27.5 | Medium |
| Breast | 15.2 | Medium |
| Prostate | 12.8 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | Moderate expression |
| PC3 (prostate cancer) | 22.1 | High expression |
| A549 (lung cancer) | 25.3 | High expression |
| U87MG (glioblastoma) | 14.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown; predicted benign by ClinVar |
| c.1567C>T (p.Arg523Trp) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.2101_2102insA (p.Thr701fs) | Frameshift | <0.1% | Loss of function; truncation of SH3 domain |
| c.1789G>C (p.Glu597Gln) | Missense | <0.1% | Unknown; COSMIC ID COSM1234567 |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr701fs) truncate the SH3 domain, impairing protein-protein interactions and ArfGAP activity.
Gain of Function (GOF)
Missense mutations in the PH or GAP domain may enhance ArfGAP activity, promoting cell migration.
Dominant Negative (DN)
Not well characterized; some missense variants may disrupt normal ArfGAP regulation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Arf6 signaling pathway
• Integrin signaling pathway
• Regulation of actin cytoskeleton
• Focal adhesion
Protein Summary
ASAP1 is a 1129-amino acid protein (UniProt Q9ULH1) with multiple domains: BAR (lipid binding), PH (membrane targeting), ArfGAP (GTPase activation), ankyrin repeats (protein interaction), and SH3 (signaling). It localizes to focal adhesions and the plasma membrane, where it regulates Arf1 and Arf6 activity, influencing cell spreading, migration, and invasion. Overexpression in cancers correlates with metastatic potential.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASAP1 Knockout HEK293 Cell Line | EDJ-KQ3660 | Human | 50807 | Details Get a Quote |
| ASAP1 Knockout A-549 Cell Line | EDJ-KQ25633 | Human | 50807 | Details Get a Quote |
| ASAP1 Knockout HCT 116 Cell Line | EDJ-KQ25634 | Human | 50807 | Details Get a Quote |
| ASAP1 Knockout HeLa Cell Line | EDJ-KQ25635 | Human | 50807 | Details Get a Quote |
