Property Summary

NCBI Gene PubMed Count 20
Grant Count 38
R01 Count 34
Funding $4,463,212.17
PubMed Score 25.25
PubTator Score 17.99

Knowledge Summary

Patent

No data available

Expression

 GO Function (1)

Gene RIF (12)

PMID Text
25138100 Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity.
24339792 We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms.
24168557 X-ray crystallography of Arl13B demonstrates involvement of mutations R79Q and R200C in stabilizing intramolecular interactions.
23548655 Arl13b acts as the all-rounder in cilia formation and signaling (Review).
23223633 These results indicate a previously unidentified role for Arl13b in endocytic recycling traffic and suggest a link between Arl13b function and the actin cytoskeleton.
23153492 Expression of Arl13b variants known to cause Joubert syndrome induce defective interneuronal migration, suggesting that defects in cilia-dependent interneuron migration may in part underlie the neurological defects in Joubert syndrome patients.
23150559 findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins
23128241 data reveal a novel but conserved role for the SUMOylation modification of ciliary small GTPase ARL13B in specifically regulating the proper ciliary targeting of various sensory receptors
21068128 Observational study of gene-disease association. (HuGE Navigator)
20231383 data implicate a role for JS-associated Arl13b at ciliary membranes, where it regulates ciliary transmembrane protein localizations and anterograde IFT assembly stability
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AA Sequence

MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIF      1 - 70
DLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGE     71 - 140
ADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRA    141 - 210
LEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKM    211 - 280
EKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKKTKK    281 - 350
LRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPN    351 - 420
SDAHDVIS                                                                  421 - 428
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Text Mined References (21)

PMID Year Title
25138100 2015 Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
24421332 2014 The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.
24339792 2013 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
24168557 2014 Structural insights into the small G-protein Arl13B and implications for Joubert syndrome.
24120134 2013 Asymmetric inheritance of centrosome-associated primary cilium membrane directs ciliogenesis after cell division.
23548655 2013 Molecular views of Arf-like small GTPases in cilia and ciliopathies.
23223633 2012 Arl13b regulates endocytic recycling traffic.
23153492 2012 Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.
23150559 2012 ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
23128241 2012 SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors.
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