Property Summary

NCBI Gene PubMed Count 38
Grant Count 14
R01 Count 10
Funding $935,627.29
PubMed Score 35.92
PubTator Score 26.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
gastric cancer 1.100 0.001
astrocytic glioma -2.000 0.003
ependymoma -1.400 0.000
oligodendroglioma -2.100 0.026
glioblastoma -2.200 0.000
osteosarcoma -1.185 0.013
atypical teratoid / rhabdoid tumor -2.400 0.000
medulloblastoma -1.200 0.016
medulloblastoma, large-cell -1.700 0.001
primitive neuroectodermal tumor -1.500 0.000
adult high grade glioma -1.900 0.000
pilocytic astrocytoma -1.300 0.000
Pick disease -1.300 0.001
ovarian cancer -1.100 0.005

Gene RIF (15)

PMID Text
25704570 Elevated levels of serum ARL6 were able to discriminate between excessive alcohol users and controls.
25402481 The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome. ARL6 E108A mutation prevents BBSome recruitment to cilia.
24939912 Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1.
23548655 Arl6 is indispensable in cilia signaling but dispensable in ciliogenesis (Review).
23219996 Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
21282186 BBS3 A89V is sufficient to rescue the transport delays induced by the loss of BBS3 but was unable to rescue vision impairment
20801516 Observational study of genetic testing. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20333246 These data demonstrate that the BBS3L transcript is required for proper retinal function and organization.
20207729 Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.
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AA Sequence

MGLLDRLSVLLGLKKKEVHVLCLGLDNSGKTTIINKLKPSNAQSQNILPTIGFSIEKFKSSSLSFTVFDM      1 - 70
SGQGRYRNLWEHYYKEGQAIIFVIDSSDRLRMVVAKEELDTLLNHPDIKHRRIPILFFANKMDLRDAVTS     71 - 140
VKVSQLLCLENIKDKPWHICASDAIKGEGLQEGVDWLQDQIQTVKT                            141 - 186
//

Text Mined References (40)

PMID Year Title
25704570 2015 Novel serum biomarkers for detection of excessive alcohol use.
25443296 2014 The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.
25402481 2014 Structural basis for membrane targeting of the BBSome by ARL6.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
23548655 2013 Molecular views of Arf-like small GTPases in cilia and ciliopathies.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
22139371 2011 Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
22072986 2011 A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
21282186 2011 Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
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