Bbs1 - Bardet-Biedl syndrome 1 (human)

Enables phosphoprotein binding activity and signaling receptor binding activity. Involved in regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including nervous system development; non-motile cilium assembly; and sensory perception of smell. Located in centriolar satellite and motile cilium. Part of BBSome. Is expressed in central nervous system; metanephros; and retina. Used to study Bardet-Biedl syndrome 1 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). [provided by Alliance of Genome Resources, Apr 2022]