ARL6

Chr 3q11.2

ARF like GTPase 6

Aliases:: RP55
MANE:: ENST00000463745.6

OMIM: 608845 ↗NCBI: 84100 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ARL6 · Q9H0F7

v62025-08-01

Predicted Aligned Error matrix for ARL6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.7/ 100

Very high

186 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)7%
Low(50–70)4%
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)

Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Bardet-Biedl syndrome
0.83
retinitis pigmentosa
0.78
Bardet-Biedl syndrome 1
0.70
Retinal dystrophy
0.61
polydactyly
0.46
autosomal recessive retinitis pigmentosa
0.42
ciliopathy
0.38
Obesity
0.37
obesity due to melanocortin 4 receptor deficiency
0.37
obesity disorder
0.37

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

Protein function (UniProt)

ADP-ribosylation factor-like protein 6

Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity)