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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARL3
ARF like GTPase 3
Chromosome 10 · 10q24.32
NCBI Gene: 403Ensembl: ENSG00000138175.10HGNC: HGNC:694UniProt: P36405
74PubMed Papers
22Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmGolgi apparatuscentrosomeJoubert syndromeJoubert syndrome 35retinitis pigmentosaretinitis pigmentosa 83
✦AI Summary

ARL3 is a small GTP-binding protein that regulates the spatial distribution of lipid-modified proteins in cilia and other cellular compartments 1. It cycles between inactive GDP-bound and active GTP-bound states, with this cycling regulated by guanine nucleotide exchange factors (GEFs) like ARL13B and GTPase-activating proteins (GAPs) like RP2 2. ARL3 functions as a cargo displacement factor, releasing lipidated proteins from solubilizing carriers (PDE6D and UNC119) to enable their selective delivery to ciliary membranes 3. This process is critical for targeting myristoylated and prenylated proteins essential for ciliogenesis and ciliary signaling 1. Additionally, ARL3 participates in ubiquitin-mediated protein retrieval from cilia by binding K63-linked polyubiquitinated proteins and coupling them to retrograde intraflagellar transport 4. ARL3 also regulates senescence initiation through a ciliary ARL13B-ARL3 cascade that controls transition fiber protein interactions 5. Mutations in ARL3 cause dominant non-syndromic retinitis pigmentosa and are implicated in ciliopathies including Joubert syndrome 61. Loss of ARL3 is embryonically lethal, while dysregulation impairs photoreceptor ciliogenesis and cargo trafficking, leading to photoreceptor degeneration 2.

Sources cited
1
ARL3's role in spatial regulation of lipidated cargo trafficking in primary cilia and involvement in ciliopathies
PMID: 40836900
2
ARL3 regulation by GEF and GAP, binary functions as cargo displacement factor, and lethality of germline ARL3 knockout
PMID: 29721959
3
ARL3's role in sorting lipidated cargo through PDE6δ and UNC119 carriers
PMID: 27806215
4
ARL3 involvement in CFAP36-mediated retrieval of polyubiquitinated proteins from cilia via retrograde IFT
PMID: 40840444
5
ARL3 participation in ciliary ARL13B-ARL3 GTPase cascade regulating senescence initiation
PMID: 37019904
6
ARL3 missense mutations cause dominant non-syndromic retinitis pigmentosa
PMID: 30932721
7
ARL3 mutations implicated in Joubert syndrome and other ciliopathies
PMID: 40836900
Disease Associationsⓘ22
Joubert syndromeOpen Targets
0.63Moderate
Joubert syndrome 35Open Targets
0.57Moderate
retinitis pigmentosaOpen Targets
0.55Moderate
retinitis pigmentosa 83Open Targets
0.50Moderate
Cone rod dystrophyOpen Targets
0.46Moderate
Rod-cone dystrophyOpen Targets
0.46Moderate
cone-rod dystrophyOpen Targets
0.46Moderate
Joubert syndrome 17Open Targets
0.37Weak
coronary artery diseaseOpen Targets
0.34Weak
cone dystrophyOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.33Weak
sialolithiasisOpen Targets
0.21Weak
schizophreniaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
kidney diseaseOpen Targets
0.19Weak
hearing lossOpen Targets
0.17Weak
Retinal dystrophyOpen Targets
0.16Weak
diabetes mellitusOpen Targets
0.12Weak
bipolar disorderOpen Targets
0.10Weak
prostate carcinomaOpen Targets
0.10Suggestive
Joubert syndrome 35UniProt
Retinitis pigmentosa 83UniProt
Pathogenic Variants2
NM_004311.4(ARL3):c.296G>T (p.Arg99Ile)Pathogenic
Progressive cone degeneration|not provided
★☆☆☆2024→ Residue 99
NM_004311.4(ARL3):c.445C>T (p.Arg149Cys)Pathogenic
Joubert syndrome 35|not provided
★☆☆☆2024→ Residue 149
View on ClinVar ↗
Related Genes
UNC119Protein interaction100%CFAP36Protein interaction97%PDE6DProtein interaction97%UNC119BProtein interaction93%RASA1Protein interaction88%SYS1Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Heart
61%
Ovary
60%
Lung
26%
Liver
16%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
ARL3UNC119CFAP36PDE6DUNC119BRASA1SYS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P36405
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.93Intolerant
Observed/Expected LoF0.26 [0.14–0.56]
RankingsWhere ARL3 stands among ~20K protein-coding genes
  • #6,377of 20,598
    Most Researched74
  • #4,370of 5,498
    Most Pathogenic Variants2
  • #3,609of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedARL3
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
PMID: 20301590
1.00
2
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.
PMID: 22884633
Vision Res · 2012
0.90
3
Binary Function of ARL3-GTP Revealed by Gene Knockouts.
PMID: 29721959
Adv Exp Med Biol · 2018
0.80
4
A conserved mechanism for the retrieval of polyubiquitinated proteins from cilia.
PMID: 40840444
Cell · 2025
0.70
5
Sorting of lipidated cargo by the Arl2/Arl3 system.
PMID: 27806215
Small GTPases · 2016
0.60