ARL6 (ADP ribosylation factor like GTPase 6)

2006-10-01  

Identity

HGNC
ARL6
LOCATION
3q11.2
LOCUSID
84100
ALIAS
BBS3,RP55
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381695382024The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma.1
381695382024The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma.1
319397362020Structure and activation mechanism of the BBSome membrane protein trafficking complex.36
323619892020High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.7
319397362020Structure and activation mechanism of the BBSome membrane protein trafficking complex.36
323619892020High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.7
298066062018Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.11
298066062018Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.11
272713092016Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.27
272713092016Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.27
257045702015Novel serum biomarkers for detection of excessive alcohol use.13
257045702015Novel serum biomarkers for detection of excessive alcohol use.13
249399122014Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.45
254024812014Structural basis for membrane targeting of the BBSome by ARL6.44
249399122014Bardet-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/haematological-explorer/case-report-explorer/js/web-card-_common.js