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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARF1
ARF GTPase 1
Chromosome 1 Β· 1q42.13
NCBI Gene: 375Ensembl: ENSG00000143761.18HGNC: HGNC:652UniProt: P84077
293PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
focal adhesionprotein bindingextracellular exosomecellular response to virusperiventricular nodular heterotopia 8periventricular nodular heterotopianeurodegenerative diseaseHIV infection
✦AI Summary

ARF1 is a small GTPase that functions as a master regulator of membrane trafficking and cellular homeostasis. Mechanistically, ARF1 recruits adaptor protein complexes to membranes to facilitate cargo selection and trafficking, with perinuclear ARF1 compartments mediating Golgi export while peripheral compartments regulate endocytic recycling 1. ARF1 also controls phosphatidylinositol 4-phosphate (PI4P) generation on trans-Golgi network vesicles, which drives mitochondrial division at endoplasmic reticulum contact sites 2. Additionally, ARF1 negatively regulates cGAS-STING signaling by maintaining mitochondrial integrity and promoting STING recycling; disease-associated ARF1 mutations impair these functions, causing type I interferonopathy 3. Clinically, ARF1 dysfunction is implicated in multiple cancers through distinct mechanisms: ARF1-mediated lipid metabolism sustains cancer stem cells, and ARF1 ablation induces anti-tumor immunity by triggering immune cell infiltration 4. Novel ARF1 inhibitors promote cancer stem cell aging and enhance anti-tumor immunity by expanding stem-like CD8+ T cells 5. In stroke, astrocytic ARF1 lactylation inhibition enables neuroprotective mitochondrial transfer from astrocytes to neurons 6. In obesity-related breast cancer, the SCARB2-ARF1-mTORC1 axis regulates glutathione-dependent tumor progression 7. These findings position ARF1 as a therapeutic target across multiple disease contexts.

Sources cited
1
ARF1 recruits adaptor proteins and organizes tubulo-vesicular compartments for Golgi export and endocytic recycling
PMID: 39367144
2
ARF1 controls PI4P generation for mitochondrial division at ER-mitochondria contact sites
PMID: 32193326
3
ARF1 negatively regulates cGAS-STING signaling; disease-causing mutations cause type I interferonopathy
PMID: 37914730
4
ARF1-mediated lipid metabolism sustains cancer stem cells; ARF1 ablation induces anti-tumor immunity
PMID: 31924786
5
Novel ARF1 inhibitors drive cancer stem cell aging and enhance anti-tumor immunity via CD8+ T cell expansion
PMID: 39225354
6
ARF1 lactylation in astrocytes regulates mitochondrial transfer to neurons in ischemic stroke
PMID: 38906140
7
SCARB2-ARF1-mTORC1 axis mediates obesity-related breast cancer progression via glutathione signaling
PMID: 39442522
Disease Associationsβ“˜21
periventricular nodular heterotopia 8Open Targets
0.72Strong
periventricular nodular heterotopiaOpen Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
HIV infectionOpen Targets
0.37Weak
adolescent idiopathic scoliosisOpen Targets
0.29Weak
atrial fibrillationOpen Targets
0.28Weak
genetic disorderOpen Targets
0.27Weak
essential hypertensionOpen Targets
0.20Weak
hypertensionOpen Targets
0.17Weak
glioblastomaOpen Targets
0.16Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.14Weak
cardiac arrhythmiaOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
infectionOpen Targets
0.06Suggestive
Periventricular nodular heterotopia 8UniProt
Pathogenic Variants12
NM_001658.4(ARF1):c.208G>A (p.Gly70Ser)Likely pathogenic
Periventricular nodular heterotopia 8|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_001658.4(ARF1):c.296G>A (p.Arg99His)Pathogenic
Periventricular nodular heterotopia 8|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 99
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys)Likely pathogenic
Periventricular nodular heterotopia 8
β˜…β˜…β˜†β˜†2022β†’ Residue 19
NM_001658.4(ARF1):c.202G>A (p.Val68Met)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 68
NM_001658.4(ARF1):c.151T>C (p.Phe51Leu)Pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2022β†’ Residue 51
NM_001658.4(ARF1):c.379A>G (p.Lys127Glu)Pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2022β†’ Residue 127
NM_001658.4(ARF1):c.295C>T (p.Arg99Cys)Likely pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2022β†’ Residue 99
NM_001658.4(ARF1):c.153C>A (p.Phe51Leu)Pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2022β†’ Residue 51
NM_001658.4(ARF1):c.392C>G (p.Pro131Arg)Pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2022β†’ Residue 131
NM_001658.4(ARF1):c.103T>G (p.Tyr35Asp)Pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2022β†’ Residue 35
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)Likely pathogenic
Periventricular nodular heterotopia 8
β˜…β˜†β˜†β˜†2019β†’ Residue 48
NM_001658.4(ARF1):c.103T>C (p.Tyr35His)Pathogenic
Periventricular nodular heterotopia 8
β˜†β˜†β˜†β˜†2018β†’ Residue 35
View on ClinVar β†—
Related Genes
COPZ1Protein interaction100%AP4M1Protein interaction100%AP4B1Protein interaction100%BRK1Protein interaction100%WASF2Protein interaction100%ABI1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
96%
Bone Marrow
96%
Liver
80%
Brain
66%
Ovary
63%
Gene Interaction Network
Click a node to explore
ARF1COPZ1AP4M1AP4B1BRK1WASF2ABI1
PROTEIN STRUCTURE
Preparing viewer…
PDB8SDW Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.25]
RankingsWhere ARF1 stands among ~20K protein-coding genes
  • #1,207of 20,598
    Most Researched293 Β· top 10%
  • #2,645of 5,498
    Most Pathogenic Variants12
  • #746of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedARF1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Astrocytic LRP1 enables mitochondria transfer to neurons and mitigates brain ischemic stroke by suppressing ARF1 lactylation.
PMID: 38906140
Cell Metab Β· 2024
1.00
2
Adipocyte-derived glutathione promotes obesity-related breast cancer by regulating the SCARB2-ARF1-mTORC1 complex.
PMID: 39442522
Cell Metab Β· 2025
0.90
3
Arf1-mediated lipid metabolism sustains cancer cells and its ablation induces anti-tumor immune responses in mice.
PMID: 31924786
Nat Commun Β· 2020
0.80
4
PMID: 37185208
J Med Genet Β· 2023
0.72
5
Novel Arf1 Inhibitors Drive Cancer Stem Cell Aging and Potentiate Anti-Tumor Immunity.
PMID: 39225354
Adv Sci (Weinh) Β· 2024
0.70