HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARL1
ARF like GTPase 1
Chromosome 12 · 12q23.2
NCBI Gene: 400Ensembl: ENSG00000120805.14HGNC: HGNC:692UniProt: B4DZG7
120PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activityprotein bindingGTP bindingenzyme activator activityneurodegenerative diseaseneuroinflammatory disorderAlzheimer diseaseParkinson disease
✦AI Summary

ARL1 (ARF-like GTPase 1) is a small GTPase that functions as a key regulator of trans-Golgi network (TGN) organization and vesicular trafficking 1. As a GTP-binding protein, ARL1 recruits multiple effectors including golgins (golgin-97 and golgin-245), arfaptins, and Arf-GEFs to the TGN, where it modulates their activities 23. The protein achieves specific subcellular targeting of effectors through distinct conformational interactions with different binding partners, exemplified by its recruitment of the Arf-GEF BIG1 via the dimerization and cyclophilin binding domain 3. ARL1 regulates diverse cellular processes including endosomal-to-Golgi retrograde transport and anterograde secretory trafficking 45. The protein coordinates with arfaptins to maintain insulin secretion from pancreatic beta cells and participates in innate immunity, cell polarity, lipid droplet formation, and neuronal development 1. Notably, arfaptin-1 acts as a negative regulator of ARL1-mediated retrograde transport, suggesting formation of functionally distinct ARL1-containing complexes in separate TGN microdomains 5. ARL1 dysregulation associates with multiple pathological conditions. Differential expression and splicing of ARL1 correlates with abdominal aortic aneurysm progression 6, and the gene is linked to various cancers and infections, though specific mechanistic contributions remain incompletely characterized.

Sources cited
1
ARL1 is an important regulator of Golgi complex structure and function involved in endosomal-TGN trafficking, innate immunity, and neuronal development
PMID: 28468990
2
ARL1 binds to the dimerization and cyclophilin binding domain in BIG1 to target this Arf-GEF to the trans-Golgi
PMID: 27373159
3
ARL1, but not ARFs, recruits arfaptins to the trans-Golgi network through interaction with their BAR domain-containing region
PMID: 21239483
4
Arfaptin-1 acts as a negative regulator of ARL1-mediated retrograde transport, suggesting distinct ARL1-containing functional complexes
PMID: 25789876
5
ARL1 regulates retrograde transport of Shiga toxin to the TGN and involves SNARE complex-mediated transport
PMID: 19224922
6
ARL1 shows differential expression and splicing patterns in abdominal aortic aneurysm tissue compared to controls
PMID: 39655704
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
neuroinflammatory disorderOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.33Weak
infectious arthritisOpen Targets
0.17Weak
cervical carcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
myopiaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
cutaneous melanomaOpen Targets
0.00Suggestive
dermatomyositisOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GOLGA4Protein interaction99%ARFIP2Protein interaction99%ARFGEF1Protein interaction94%SCOCProtein interaction87%RAB6AProtein interaction80%COG6Protein interaction79%
Tissue Expression6 tissues
Heart
100%
Brain
74%
Ovary
49%
Liver
48%
Lung
31%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
ARL1GOLGA4ARFIP2ARFGEF1SCOCRAB6ACOG6
PROTEIN STRUCTURE
Preparing viewer…
PDB1UPT · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.50 [0.29–0.91]
RankingsWhere ARL1 stands among ~20K protein-coding genes
  • #3,906of 20,598
    Most Researched120 · top quartile
  • #8,214of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedARL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multiple activities of Arl1 GTPase in the trans-Golgi network.
PMID: 28468990
J Cell Sci · 2017
1.00
2
ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins.
PMID: 11303027
J Biol Chem · 2001
0.90
3
Differential Expression Analyses on Human Aortic Tissue Reveal Novel Genes and Pathways Associated With Abdominal Aortic Aneurysm Onset and Progression.
PMID: 39655704
J Am Heart Assoc · 2024
0.80
4
Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi.
PMID: 27373159
Cell Rep · 2016
0.70
5
Arfaptin-1 negatively regulates Arl1-mediated retrograde transport.
PMID: 25789876
PLoS One · 2015
0.60