Bbs1 - Bardet-Biedl syndrome 1

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; phosphoprotein binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including non-motile cilium assembly; photoreceptor cell maintenance; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within several processes, including Golgi to plasma membrane protein transport; nervous system development; and sensory perception of smell. Predicted to be located in centriolar satellite and motile cilium. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. 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]