ARL6

ARF like GTPase 6

Ensembl:
ENSG00000113966
UniProt:
Q9H0F7
OMIM:
608845
Synonyms:
BBS3, RP55

Cilia effects upon perturbation of ARL6

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.18) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=542, lfc=-2.62) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Bardet-Biedl syndrome; retinitis pigmentosa; Bardet-Biedl syndrome 1

Ciliopathy associations

  • Bardet-Biedl Syndrome
  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Ciliary membrane
  • Transition zone

Function

Mutated in Bardet-Biedl syndrome (type 3) and retinitis pigmentosa (type 55) (OMIM 608845, PMID:19956407, PMID:15314642). At the ciliary gate, regulates Wnt sig lling (PMID:20207729). Functions with BBSome to coat proteins for trafficking to the cilium (PMID:20603001).

Model organism evidence

Mus musculus (1 reference)

Our phylogenetic profiling of paralogues in diverse species identified four family members whose presence correlates with that of a cilium/flagellum: ARL3, ARL6, ARL13, and ARL16.

PMIDs: 35196065