ARL6 (ADP ribosylation factor like GTPase 6)

2006-10-01 Affiliation

Identity

HGNC

ARL6

LOCATION

3q11.2

LOCUSID

84100

ALIAS

BBS3,RP55

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000113966	ENST00000335979	Q9H0F7
ENSG00000113966	ENST00000394206	Q9H0F7
ENSG00000113966	ENST00000462412	C9IZ13
ENSG00000113966	ENST00000463745	Q9H0F7
ENSG00000113966	ENST00000476753	H7C5H6
ENSG00000113966	ENST00000493990	Q9H0F7
ENSG00000113966	ENST00000631834	A0A0J9YXT0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Cargo trafficking to the periciliary membrane	REACTOME	R-HSA-5620920
BBSome-mediated cargo-targeting to cilium	REACTOME	R-HSA-5620922

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38169538	2024	The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma.	1
38169538	2024	The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma.	1
31939736	2020	Structure and activation mechanism of the BBSome membrane protein trafficking complex.	36
32361989	2020	High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.	7
31939736	2020	Structure and activation mechanism of the BBSome membrane protein trafficking complex.	36
32361989	2020	High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.	7
29806606	2018	Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.	11
29806606	2018	Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.	11
27271309	2016	Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.	27
27271309	2016	Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.	27
25704570	2015	Novel serum biomarkers for detection of excessive alcohol use.	13
25704570	2015	Novel serum biomarkers for detection of excessive alcohol use.	13
24939912	2014	Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.	45
25402481	2014	Structural basis for membrane targeting of the BBSome by ARL6.	44
24939912	2014	Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.	45

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/favicon/teaching-explorer/js/deep-insight-explorer/