ARL6 (ADP ribosylation factor like GTPase 6)

2006-10-01  

Identity

HGNC
LOCATION
3q11.2
LOCUSID
ALIAS
BBS3,RP55
FUSION GENES

Other Information

Locus ID:

NCBI: 84100
MIM: 608845
HGNC: 13210
Ensembl: ENSG00000113966

Variants:

dbSNP: 84100
ClinVar: 84100
TCGA: ENSG00000113966
COSMIC: ARL6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113966ENST00000335979Q9H0F7
ENSG00000113966ENST00000394206Q9H0F7
ENSG00000113966ENST00000462412C9IZ13
ENSG00000113966ENST00000463745Q9H0F7
ENSG00000113966ENST00000476753H7C5H6
ENSG00000113966ENST00000493990Q9H0F7
ENSG00000113966ENST00000631834A0A0J9YXT0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153146422004Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.106
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
202077292010Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.48
203332462010Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.38
249399122014Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.30
254024812014Structural basis for membrane targeting of the BBSome by ARL6.25
212821862011Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.20
235486552013Molecular views of Arf-like small GTPases in cilia and ciliopathies.20
272713092016Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.13
192368462009Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome.11

Citation

Dessen P

ARL6 (ADP ribosylation factor like GTPase 6)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43157/arl6-(adp-ribosylation-factor-like-gtpase-6)