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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AFAP1
actin filament associated protein 1
Chromosome 4 · 4p16.1
NCBI Gene: 60312Ensembl: ENSG00000196526.12HGNC: HGNC:24017UniProt: Q6ZRV0
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
focal adhesionactin cytoskeletoncytosolactin filamentopen-angle glaucomaglaucomaDupuytren Contracturechronic obstructive pulmonary disease
✦AI Summary

AFAP1 (actin filament associated protein 1) is a cytoskeletal regulatory protein that cross-links actin filaments into network and bundle structures, modulates actin filament integrity, and induces lamellipodia formation. AFAP1 functions as an adapter molecule linking proteins such as SRC and PKC to the actin cytoskeleton, with particular roles in focal adhesion regulation and signal transduction. Mechanistically, AFAP1 regulates cell-matrix adhesions and migration, processes critical for both normal cellular function and pathological conditions. The protein operates at the intersection of cytoskeletal dynamics and cell signaling, positioning it as a key regulator of cellular motility and invasive characteristics 1. Disease relevance extends across multiple organ systems. AFAP1 has been identified as a genetic risk locus for primary open-angle glaucoma (POAG) in genome-wide association studies 2, and more recently as an aortic stenosis-specific genetic risk factor independent of coronary artery disease 3. Additionally, AFAP1's antisense RNA, AFAP1-AS1, is aberrantly expressed in numerous malignancies including lung, gastric, hepatocellular, ovarian, and breast cancers, where it promotes epithelial-mesenchymal transition, migration, invasion, and chemotherapy resistance 456. Clinically, AFAP1 expression patterns and AFAP1-AS1 dysregulation correlate with poor prognosis and tumor progression, positioning these molecules as potential biomarkers and therapeutic targets for cancer diagnosis and treatment 61.

Sources cited
1
AFAP1 identified as a genetic locus associated with primary open-angle glaucoma (POAG) through genome-wide association studies
PMID: 28505344
2
AFAP1 is an aortic stenosis-specific genetic risk locus independent of coronary artery disease
PMID: 39504041
3
AFAP1-AS1 promotes lung cancer migration and invasion through SNIP1-mediated c-Myc stabilization and EMT enhancement
PMID: 34168109
4
AFAP1-AS1 is an oncogenic lncRNA overexpressed in multiple solid tumors that promotes proliferation, chemotherapy resistance, and tumor cell migration/invasion
PMID: 33999309
5
AFAP1-AS1 dysregulation is associated with oncogenesis, tumor progression, overall survival, and metastasis across multiple cancer types
PMID: 30173945
6
AFAP1 regulates cytophagy, cell motility, and invasive characteristics; AFAP1-AS1 correlates with poor clinical outcomes in cancer patients
PMID: 34912717
Disease Associationsⓘ20
open-angle glaucomaOpen Targets
0.53Moderate
glaucomaOpen Targets
0.52Moderate
Dupuytren ContractureOpen Targets
0.42Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.42Moderate
diverticular diseaseOpen Targets
0.42Moderate
aortic stenosisOpen Targets
0.40Moderate
alcohol drinkingOpen Targets
0.39Weak
response to xenobiotic stimulusOpen Targets
0.33Weak
benign neoplasm of adrenal glandOpen Targets
0.32Weak
coronary atherosclerosisOpen Targets
0.32Weak
exfoliation syndromeOpen Targets
0.31Weak
drug allergyOpen Targets
0.31Weak
femur fractureOpen Targets
0.31Weak
spontaneous coronary artery dissectionOpen Targets
0.30Weak
self-injurious ideationOpen Targets
0.30Weak
abnormal chest soundsOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.30Weak
low tension glaucomaOpen Targets
0.30Weak
migraine disorderOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HPCAL1Shared pathway100%VSNL1Shared pathway100%PPP6R2Shared pathway100%PPP6R1Shared pathway100%RGS22Shared pathway100%PPP6R3Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
81%
Ovary
68%
Lung
66%
Bone Marrow
14%
Liver
11%
Gene Interaction Network
Click a node to explore
AFAP1HPCAL1VSNL1PPP6R2PPP6R1RGS22PPP6R3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZRV0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.62–0.92]
RankingsWhere AFAP1 stands among ~20K protein-coding genes
  • #7,231of 20,598
    Most Researched64
  • #8,412of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedAFAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Long non-coding RNA AFAP1-AS1 accelerates lung cancer cells migration and invasion by interacting with SNIP1 to upregulate c-Myc.
PMID: 34168109
Signal Transduct Target Ther · 2021
1.00
2
Roles of AFAP1-AS1 in Gynecology and Urogenital System.
PMID: 38347771
Curr Pharm Des · 2024
0.90
3
Genetics of glaucoma.
PMID: 28505344
Hum Mol Genet · 2017
0.80
4
AFAP1-AS1: a rising star among oncogenic long non-coding RNAs.
PMID: 33999309
Sci China Life Sci · 2021
0.70
5
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease.
PMID: 39504041
JAMA Cardiol · 2025
0.60