DISEASES

Disease-gene associations mined from literature

Literature associating ARL3 and Bardet-Biedl syndrome 5

ARL3 [ENSP00000260746]

ADP-ribosylation factor-like protein 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase- activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins such as NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium. Does not act as an allosteric activator of the cholera toxin catalytic subunit; ARF GTPase family

Synonyms:  ARL3,  ARL3p,  hARL3,  P36405,  ARFL3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM