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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AGFG1
ArfGAP with FG repeats 1
Chromosome 2 · 2q36.3
NCBI Gene: 3267Ensembl: ENSG00000173744.19HGNC: HGNC:5175UniProt: A0A0S2Z444
115PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintermediate filament organizationcytoplasmacrosome assemblynervous system benign neoplasmmusculoskeletal system diseasepreeclampsiaPeyronie disease
✦AI Summary

AGFG1 (ArfGAP with FG repeats 1) is a protein involved in intracellular vesicle trafficking and cholesterol metabolism with emerging roles in cancer progression. Primary functions include regulation of vesicle docking and fusion during acrosome biogenesis, and participation in RNA trafficking and export 1. The protein interacts with CAV1 to relocate cholesterol within cells, thereby modulating intracellular cholesterol biosynthesis 1. In pancreatic ductal adenocarcinoma, AGFG1 upregulation disrupts cholesterol homeostasis to enhance cholesterol biosynthesis, promoting tumor cell proliferation 1. Circular RNA variants of AGFG1 (circAGFG1) function as microRNA sponges, sequestering miR-653-5p in breast cancer and miR-497-5p in esophageal squamous cell carcinoma, thereby promoting malignant cell behaviors including proliferation, invasion, and metabolic reprogramming 23. Additionally, genetic variants in AGFG1 are associated with airway hyperresponsiveness severity in asthma, suggesting a role in airway smooth muscle regulation 4. Clinically, AGFG1 expression correlates with poor prognosis in PDAC, positioning it as a potential therapeutic target for cholesterol metabolism-based cancer interventions. The multiple disease associations and emerging understanding of its metabolic functions warrant further investigation into AGFG1-targeted therapies.

Sources cited
1
AGFG1 interacts with CAV1 to disrupt cholesterol homeostasis and enhance cholesterol biosynthesis in pancreatic ductal adenocarcinoma, promoting tumor progression
PMID: 39089666
2
Circular RNA AGFG1 acts as a microRNA-653-5p sponge to promote breast cancer cell proliferation, invasion, migration, and glycolysis
PMID: 37851953
3
Circular RNA AGFG1 promotes esophageal squamous cell carcinoma progression and glutamine catabolism by sponging miR-497-5p to upregulate SLC1A5
PMID: 36206112
4
Genetic variants in AGFG1 are associated with severity of airway hyperresponsiveness in asthma
PMID: 23984888
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
nervous system benign neoplasmOpen Targets
0.34Weak
musculoskeletal system diseaseOpen Targets
0.26Weak
preeclampsiaOpen Targets
0.23Weak
Peyronie diseaseOpen Targets
0.20Weak
azoospermiaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
deafness-infertility syndromeOpen Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
spermatogenic failure 91Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB1AProtein interaction100%VTI1BProtein interaction100%VAMP7Protein interaction99%VAMP2Protein interaction98%FCHO1Protein interaction86%EPN2Protein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
47%
Brain
46%
Heart
36%
Ovary
23%
Liver
21%
Gene Interaction Network
Click a node to explore
AGFG1RAB1AVTI1BVAMP7VAMP2FCHO1EPN2
PROTEIN STRUCTURE
Preparing viewer…
PDB2OLM · 1.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.29]
RankingsWhere AGFG1 stands among ~20K protein-coding genes
  • #4,101of 20,598
    Most Researched115 · top quartile
  • #1,028of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedAGFG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RIP3 induces apoptosis independent of pronecrotic kinase activity.
PMID: 25459880
Mol Cell · 2014
1.00
2
Induction of TNF receptor I-mediated apoptosis via two sequential signaling complexes.
PMID: 12887920
Cell · 2003
0.90
3
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
PMID: 26642243
Nat Genet · 2016
0.80
4
AGFG1 increases cholesterol biosynthesis by disrupting intracellular cholesterol homeostasis to promote PDAC progression.
PMID: 39089666
Cancer Lett · 2024
0.70
5
Circular RNA AGFG1 motivates breast cancer cell proliferation, invasion, migration, and glycolysis by controlling microRNA-653-5p/14-3-3 protein epsilon.
PMID: 37851953
Acta Biochim Pol · 2023
0.60