ARL6 (ADP Ribosylation Factor Like GTPase 6)
Bardet-Biedl Syndrome 3; BBS3
Gene Information Card
| Symbol | ARL6 |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q11.2 |
| NCBI Gene ID | 84100 ncbi.nlm.nih.gov/gene/84100 |
| Ensembl ID | ENSG00000113966 |
| UniProt ID | Q9H0F7 |
| OMIM ID | 608845 |
| HGNC ID | 13210 |
| Aliases | BBS3, RP55 |
Description
ARL6 (ADP Ribosylation Factor Like GTPase 6) encodes a member of the ARF-like family of small GTPases. The protein localizes to the basal body and ciliary axoneme and is required for ciliogenesis and intraflagellar transport. Mutations in ARL6 cause Bardet-Biedl syndrome type 3 (BBS3), a pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, renal dysfunction, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 3 (BBS3) | Loss-of-function mutations impair ciliary trafficking and signaling | OMIM #209900; ClinVar |
| Retinitis pigmentosa 55 (RP55) | ARL6 missense variants disrupt ciliary protein transport in photoreceptors | OMIM #613575; ClinVar |
| Nephronophthisis-like phenotype | Ciliary dysfunction leads to renal tubular defects and fibrosis | PubMed; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.7 | Medium |
| Kidney | 7.5 | Medium |
| Retina | 6.9 | Medium |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 9.1 | Ciliated retinal pigment epithelial cells |
| HEK 293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 6.4 | Neuroblastoma cells |
| HeLa | 5.0 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535C>T (p.Arg179*) | Nonsense | Rare | Loss-of-function; premature truncation |
| c.113G>A (p.Arg38Gln) | Missense | Rare | Impaired GTP binding and ciliary localization |
| c.448C>T (p.Arg150Cys) | Missense | Rare | Reduced protein stability and ciliary defect |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation |
Mutation functional classification
Loss of Function (LOF)
Majority of BBS3-associated ARL6 mutations are loss-of-function (nonsense, frameshift, start loss) leading to truncated or absent protein, impairing ciliogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; ARL6 mutations are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Bardet-Biedl syndrome pathway (Reactome: R-HSA-5620912)
• Cilium assembly and intraflagellar transport (KEGG: hsa04520)
Protein Summary
ARL6 is a 186-amino acid small GTPase that cycles between GDP-bound (inactive) and GTP-bound (active) states. It localizes to the basal body and ciliary axoneme, where it regulates membrane trafficking and intraflagellar transport. The protein interacts with BBSome components (e.g., BBS1, BBS4) to mediate ciliary cargo delivery. Loss of ARL6 function disrupts ciliary signaling, leading to the multisystemic features of Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL6IP5 Knockout HEK293 Cell Line | EDJ-KQ6462 | Human | 10550 | Details Get a Quote |
| ARL6 Knockout HEK293 Cell Line | EDJ-KQ9979 | Human | 84100 | Details Get a Quote |
| ARL6IP5 Knockout A-549 Cell Line | EDJ-KQ31929 | Human | 10550 | Details Get a Quote |
| ARL6IP5 Knockout HCT 116 Cell Line | EDJ-KQ31931 | Human | 10550 | Details Get a Quote |
| ARL6IP5 Knockout HeLa Cell Line | EDJ-KQ31932 | Human | 10550 | Details Get a Quote |
| ARL6 Knockout A-549 Cell Line | EDJ-KQ36922 | Human | 84100 | Details Get a Quote |
| ARL6 Knockout HCT 116 Cell Line | EDJ-KQ36923 | Human | 84100 | Details Get a Quote |
| ARL6 Knockout HeLa Cell Line | EDJ-KQ36924 | Human | 84100 | Details Get a Quote |
| ARL6IP1 Knockout HEK293 Cell Line | EDJ-KQ51087 | Human | 23204 | Details Get a Quote |
| ARL6IP4 Knockout HEK293 Cell Line | EDJ-KQ51307 | Human | 51329 | Details Get a Quote |
| ARL6IP6 Knockout HEK293 Cell Line | EDJ-KQ52051 | Human | 151188 | Details Get a Quote |
| ARL6IP1 Knockout HeLa Cell Line | EDJ-KQ55703 | Human | 23204 | Details Get a Quote |
| ARL6IP4 Knockout HeLa Cell Line | EDJ-KQ56287 | Human | 51329 | Details Get a Quote |
| ARL6IP6 Knockout HeLa Cell Line | EDJ-KQ58681 | Human | 151188 | Details Get a Quote |
| ARL6IP1 Knockout A-549 Cell Line | EDJ-KQ64200 | Human | 23204 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
