Entrez Summary: This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013].
UniProt Summary: Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function. {ECO:0000269|PubMed:20233871, ECO:0000269|PubMed:22072986, ECO:0000269|PubMed:22510444}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
negative regulation of protein localization to ciliary membrane
regulation of protein localization to ciliary membrane
negative regulation of protein localization to cilium
regulation of protein localization to cilium
negative regulation of protein localization to cell periphery
negative regulation of protein localization to membrane
negative regulation of cellular protein localization
regulation of protein localization to cell periphery
regulation of protein localization to membrane
protein-containing complex binding
regulation of cellular protein localization
regulation of cellular localization
regulation of protein localization
identical protein binding
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)