ARL3

Chr 10q24.32

ARF like GTPase 3

Aliases:: ARFL3
MANE:: ENST00000260746.6

OMIM: 604695 ↗NCBI: 403 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ARL3 · P36405

v62025-08-01

Predicted Aligned Error matrix for ARL3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.7/ 100

Very high

182 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)6%
Low(50–70)9%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Joubert syndrome
0.63
Joubert syndrome 35
0.57
retinitis pigmentosa
0.55
retinitis pigmentosa 83
0.50
cone-rod dystrophy
0.47
Cone rod dystrophy
0.46
Rod-cone dystrophy
0.46
Joubert syndrome 17
0.37
cone dystrophy
0.33
neurodegenerative disease
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ADP-ribosylation factor-like protein 3

Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E (PubMed:30269812). Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity)