AFAP1: Actin Filament Associated Protein 1
A key regulator of actin cytoskeleton dynamics, implicated in cancer progression and cell migration.
Gene Information Card
| Symbol | AFAP1 |
|---|---|
| Full Name | Actin Filament Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 60312 ncbi.nlm.nih.gov/gene/60312 |
| Ensembl ID | ENSG00000196526 |
| UniProt ID | Q8N556 |
| OMIM ID | 608252 |
| HGNC ID | 24017 |
| Aliases | AFAP, AFAP-110, FLJ10895 |
Description
AFAP1 (Actin Filament Associated Protein 1) encodes a protein that binds to actin filaments and regulates cytoskeletal dynamics. It is involved in cell adhesion, migration, and signaling pathways. Overexpression and mutations in AFAP1 are associated with various cancers, including breast, prostate, and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell migration and invasion via actin remodeling | PMID: 23454898 |
| Prostate cancer | AFAP1 upregulation correlates with metastasis and poor prognosis | PMID: 25636847 |
| Colorectal cancer | AFAP1 amplification enhances tumor growth and invasion | PMID: 27562873 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Prostate | 8.3 | Low |
| Colon | 15.2 | Medium |
| Lung | 6.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| PC3 (prostate cancer) | 22.1 | High expression |
| HCT116 (colorectal cancer) | 14.7 | Medium expression |
| A549 (lung cancer) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Glu416Lys) | Missense | 0.02% | Unknown |
| c.1873C>T (p.Arg625Trp) | Missense | 0.01% | Unknown |
| c.2110_2111insA (p.Thr704fs) | Frameshift | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr704fs) lead to truncated protein and loss of actin-binding function.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu416Lys) may enhance actin filament crosslinking and promote cell migration.
Dominant Negative (DN)
No dominant negative mutations reported in COSMIC or ClinVar.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 - actin binding | • GO:0005856 - cytoskeleton |
| • GO:0030036 - actin cytoskeleton organization | • GO:0016477 - cell migration |
| • GO:0007165 - signal transduction |
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663205)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
AFAP1 is a 110 kDa protein that contains an actin-binding domain and multiple SH3-binding motifs. It localizes to actin stress fibers and focal adhesions, modulating cytoskeletal dynamics. Through interactions with Src and other kinases, AFAP1 influences cell adhesion, migration, and invasion. Its dysregulation is linked to cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AFAP1L1 Knockout HEK293 Cell Line | EDJ-KQ2528 | Human | 134265 | Details Get a Quote |
| AFAP1L2 Knockout HEK293 Cell Line | EDJ-KQ10141 | Human | 84632 | Details Get a Quote |
| AFAP1 Knockout HEK293 Cell Line | EDJ-KQ12300 | Human | 60312 | Details Get a Quote |
| AFAP1L1 Knockout A-549 Cell Line | EDJ-KQ23149 | Human | 134265 | Details Get a Quote |
| AFAP1L1 Knockout HCT 116 Cell Line | EDJ-KQ23150 | Human | 134265 | Details Get a Quote |
| AFAP1L1 Knockout HeLa Cell Line | EDJ-KQ23151 | Human | 134265 | Details Get a Quote |
| AFAP1 Knockout HCT 116 Cell Line | EDJ-KQ41117 | Human | 60312 | Details Get a Quote |
| AFAP1 Knockout HeLa Cell Line | EDJ-KQ41118 | Human | 60312 | Details Get a Quote |
| AFAP1L2 Knockout A-549 Cell Line | EDJ-KQ37241 | Human | 84632 | Details Get a Quote |
| AFAP1L2 Knockout HeLa Cell Line | EDJ-KQ37242 | Human | 84632 | Details Get a Quote |
| AFAP1 Knockout A-549 Cell Line | EDJ-KQ39868 | Human | 60312 | Details Get a Quote |
| AFAP1L2 Knockout HCT 116 Cell Line | EDJ-KQ74547 | Human | 84632 | Details Get a Quote |
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