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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AGAP1
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Chromosome 2 · 2q37.2
NCBI Gene: 116987Ensembl: ENSG00000157985.20HGNC: HGNC:16922UniProt: B2RZG9
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphospholipid bindingGTPase activityGTPase activator activityAbnormality of the skeletal systemcentral nervous system infectiongestational diabeteshyperaldosteronism
✦AI Summary

AGAP1 is an Arf GTPase-activating protein that functions as a central regulator of endolysosomal trafficking and cytoskeleton dynamics. As a GAP for ARF1 and ARF5, AGAP1 directly regulates AP-3-dependent protein trafficking in the endosomal-lysosomal system 1, distinguishing it from the related AGAP2 which regulates AP-1 recycling endosomes. Beyond canonical Arf regulation, AGAP1 functions through multiple molecular interactions: it binds directly to the kinesin-13 motor protein Kif2A, enhancing its ATPase activity and regulating microtubule-dependent cytoskeleton remodeling 2, and it controls subcellular localization of FilGAP to regulate cell migration and invasion 3. Germline AGAP1 variants cause neurodevelopmental disorders including intellectual disability, autism, and dystonia 4. Loss of AGAP1 function impairs endolysosomal trafficking, chr2 activating the integrated stress response and rendering cells hypersensitive to environmental cytotoxic stressors 4. In cancer, mutant p53 upregulates AGAP1 expression via hnRNPA2B1-mediated mRNA stabilization, promoting esophageal squamous cell carcinoma progression through enhanced exosome formation 5. AGAP1 variants also interact with bevacizumab treatment outcomes in cancer patients, suggesting predictive clinical utility 6.

Sources cited
1
AGAP1 is an Arf1 GTPase-activating protein regulating endolysosomal trafficking; damaging variants cause intellectual disability, autism, dystonia, and other neurodevelopmental impairments through impaired endolysosomal trafficking and stress response dysregulation
PMID: 37470098
2
AGAP1 specifically associates with and regulates AP-3 endosomes, distinct from AGAP2 which regulates AP-1 recycling endosomes
PMID: 16079295
3
AGAP1 interacts directly with the kinesin-13 motor protein Kif2A; this interaction enhances AGAP1 GAP activity and Kif2A ATPase activity, contributing to cytoskeleton remodeling and cell migration
PMID: 27531749
4
AGAP1 regulates subcellular localization of FilGAP at intracellular vesicles; loss of AGAP1 promotes cell invasion through FilGAP-dependent actin cytoskeleton remodeling
PMID: 31785816
5
Mutant p53 upregulates AGAP1 expression via hnRNPA2B1-mediated mRNA stabilization; AGAP1 promotes esophageal squamous cell carcinoma progression by enhancing exosome formation
PMID: 37030635
6
AGAP1 genetic variants (rs3795897) interact with bevacizumab treatment to predict cancer patient survival outcomes
PMID: 34528705
7
AGAP1 binds directly to and influences activity of molecular motors (myosins and kinesins), linking Arf regulation to actin and microtubule cytoskeleton remodeling
PMID: 28430047
8
AGAP1 interacts with nitric oxide-sensitive guanylyl cyclase; this interaction is modulated by tyrosine phosphorylation and may integrate Arf, NO/cGMP, and tyrosine kinase signaling
PMID: 15381706
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
central nervous system infectionOpen Targets
0.32Weak
gestational diabetesOpen Targets
0.32Weak
hyperaldosteronismOpen Targets
0.30Weak
adrenal gland hyperfunctionOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.29Weak
pelvic organ prolapseOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.27Weak
brain aneurysmOpen Targets
0.27Weak
pathological myopiaOpen Targets
0.26Weak
Second degree atrioventricular blockOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
vascular diseaseOpen Targets
0.24Weak
liver diseaseOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.23Weak
alopecia areataOpen Targets
0.23Weak
schizophreniaOpen Targets
0.23Weak
systemic inflammatory response syndromeOpen Targets
0.23Weak
cerebral palsyOpen Targets
0.19Weak
craniofacial microsomiaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARF1Protein interaction73%ARF5Protein interaction70%CAMKVShared pathway50%STRN4Shared pathway33%PDXPShared pathway14%EGLN1Shared pathway13%
Tissue Expression6 tissues
Brain
100%
Heart
34%
Lung
17%
Ovary
16%
Liver
11%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
AGAP1ARF1ARF5CAMKVSTRN4PDXPEGLN1
PROTEIN STRUCTURE
Preparing viewer…
PDB7EB6 · 3.01 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.20–0.37]
RankingsWhere AGAP1 stands among ~20K protein-coding genes
  • #8,038of 20,598
    Most Researched56
  • #1,676of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedAGAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.
PMID: 37470098
Dis Model Mech · 2023
1.00
2
Arf GAPs and molecular motors.
PMID: 28430047
Small GTPases · 2019
0.90
3
Mutant p53 activates hnRNPA2B1-AGAP1-mediated exosome formation to promote esophageal squamous cell carcinoma progression.
PMID: 37030635
Cancer Lett · 2023
0.80
4
Genome-wide association studies of survival in 1520 cancer patients treated with bevacizumab-containing regimens.
PMID: 34528705
Int J Cancer · 2022
0.70
5
AGAP1 regulates subcellular localization of FilGAP and control cancer cell invasion.
PMID: 31785816
Biochem Biophys Res Commun · 2020
0.60