ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene. [5][6] This gene encodes a member of the ADP-ribosylation factor-like family.

2024年12月24日 · ARL13B (ARF Like GTPase 13B) is a Protein Coding gene. Diseases associated with ARL13B include Joubert Syndrome 8 and Joubert Syndrome 1 . Among its related pathways are Selective autophagy and Signaling by Rho GTPases .

We show Arl13b is localized to the ciliary membrane and regulates tubulin modifications and ciliary length in vitro. Significantly, we found that Smoothened is enriched in Arl13b null fibroblasts, even without Sonic hedgehog stimulation, but that Glis are not similarly enriched.

2025年1月4日 · ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E. Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 …

2019年2月20日 · ADP ribosylation factor-like GTPase 13B (Arl13b) is a member of the Arf-like Ras superfamily of small GTPases. Small GTPases serve as molecular “switches” that cycle between GDP-bound “off” and GTP-bound “on” conformations (Cherfils and Zeghouf, 2013).

Arl13b was initially identified as a candidate that potentially plays a role in multiple ciliated organs in zebrafish [50,51]. Arl 13 bhnn mouse embryos show ciliopathy defects in neural tube patterning, limbs and eyes [52].

2015年11月23日 · The ARL13B gene encodes a member of the ADP-ribosylation factor-like (ARL) family of small GTPases of the RAS superfamily. ARL13B is required for proper cilia formation (summary by Thomas et al., 2015).

2019年2月20日 · Mutations in the Joubert syndrome-associated small GTPase ARL13B are linked to photoreceptor impairment and vision loss. To determine the role of ARL13B in the development, function, and maintenance of ciliated photoreceptors, we generated a pan-retina knock-out ( Six3 -Cre) and a rod photorece …

ARL13B is a regulatory GTPase highly enriched in cilia. Complete loss of Arl13b disrupts cilia architecture, protein trafficking and Sonic hedgehog signaling. To determine whether ARL13B is required within cilia, we knocked in a cilia-excluded ...

2024年10月10日 · Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation. Hori Y, Kobayashi T, Kikko Y, Kontani K, Katada THori Y, et al. Biochem Biophys Res Commun, 2008 Aug 15. PMID 18554500.