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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARFGAP1
ARF GTPase activating protein 1
Chromosome 20 · 20q13.33
NCBI Gene: 55738Ensembl: ENSG00000101199.14HGNC: HGNC:15852UniProt: Q53F62
120PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityprotein bindingsynapseGolgi membranePrecordial paininfectionParkinson diseasecancer
✦AI Summary

ARFGAP1 is a GTPase-activating protein that catalyzes GTP hydrolysis of ADP-ribosylation factor 1 (ARF1), a critical regulator of membrane trafficking 1. By promoting ARF1 inactivation, ARFGAP1 enables dissociation of COPI coat proteins from Golgi-derived vesicles, facilitating vesicle fusion with target compartments 2. The protein localizes to the Golgi through hydrophobic motifs in its non-catalytic domain, with tissue-specific isoforms identified in brain and heart 2. Beyond ARF1, ARFGAP1 exhibits GAP activity toward ARL1 at the trans-Golgi network and regulates endosome-to-TGN retrograde transport 3. Recent studies reveal broader signaling roles: ARFGAP1 inhibits mTORC1 activation by preventing its lysosomal localization through membrane curvature-sensing motifs, functioning as an independent prognostic factor in pancreatic cancer 4. ARFGAP1 also regulates LRRK2 GTPase activity; the proteins interact reciprocally, with ARFGAP1 enhancing LRRK2 GTP hydrolysis while LRRK2 phosphorylates ARFGAP1 and inhibits its GAP activity 5. ARFGAP1 silencing rescues neurotoxic phenotypes induced by Parkinson's disease-associated LRRK2 mutations, suggesting therapeutic potential 5. Additionally, C9orf72 toxic species implicated in ALS specifically disrupt ARFGAP1-mediated retrograde Golgi-to-ER transport 6, implicating ARFGAP1 dysfunction in neurodegeneration.

Sources cited
1
ARFGAP1 is an ARF GTPase-activating protein containing conserved zinc finger motifs; strongly expressed in endocrine glands and testis
PMID: 10704287
2
ARFGAP1 localizes to Golgi through hydrophobic residues (204-214); tissue-specific isoforms exist in brain and heart with alternative localization mechanisms
PMID: 16316994
3
ArfGAP1 exhibits GAP activity toward ARL1 at the trans-Golgi network; regulates endosome-to-TGN retrograde transport
PMID: 33715220
4
ARFGAP1 inhibits mTORC1 lysosomal localization and activation through ALPS motifs; independent prognostic factor for pancreatic cancer survival
PMID: 33988249
5
ARFGAP1 regulates LRRK2 GTPase and kinase activity; silencing rescues neurite shortening from Parkinson's disease-associated LRRK2 G2019S mutation
PMID: 22363216
6
ARFGAP1 regulates ARF function in COPI-mediated membrane traffic, cargo sorting, and vesicle coat polymerization
PMID: 22806901
7
ARFGAP1 is a GAP for LRRK2; reciprocally regulated by LRRK2 phosphorylation; knockdown reduces LRRK2 toxicity
PMID: 22423108
8
C9orf72 toxic species disrupt ARFGAP1-mediated retrograde Golgi-to-ER vesicle transport in ALS pathogenesis
PMID: 37566088
Disease Associationsⓘ20
Precordial painOpen Targets
0.13Weak
infectionOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.01Suggestive
retinal degenerationOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
fetal growth restrictionOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
retinitis pigmentosa 1Open Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Infantile dystonia-parkinsonismOpen Targets
0.00Suggestive
parkinsonism-dystonia, infantileOpen Targets
0.00Suggestive
sarcoidosisOpen Targets
0.00Suggestive
steatosisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MOGSProtein interaction96%ARF6Protein interaction89%ARF1Protein interaction89%KDELR1Protein interaction83%AP2B1Protein interaction82%ARF3Protein interaction80%
Tissue Expression6 tissues
Ovary
100%
Lung
88%
Liver
84%
Bone Marrow
61%
Heart
37%
Brain
32%
Gene Interaction Network
Click a node to explore
ARFGAP1MOGSARF6ARF1KDELR1AP2B1ARF3
PROTEIN STRUCTURE
Preparing viewer…
PDB3DWD · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.45 [0.33–0.63]
RankingsWhere ARFGAP1 stands among ~20K protein-coding genes
  • #3,905of 20,598
    Most Researched120 · top quartile
  • #4,476of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedARFGAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Golgi localization determinants in ArfGAP1 and in new tissue-specific ArfGAP1 isoforms.
PMID: 16316994
J Biol Chem · 2006
1.00
2
ArfGAP1 acts as a GTPase-activating protein for human ADP-ribosylation factor-like 1 protein.
PMID: 33715220
FASEB J · 2021
0.90
3
Characterization, chromosomal assignment, and tissue expression of a novel human gene belonging to the ARF GAP family.
PMID: 10704287
Genomics · 2000
0.80
4
ArfGAP1 inhibits mTORC1 lysosomal localization and activation.
PMID: 33988249
EMBO J · 2021
0.70
5
GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1.
PMID: 22363216
PLoS Genet · 2012
0.60