Aliases for IQCB1 Gene
External Ids for IQCB1 Gene
Previous GeneCards Identifiers for IQCB1 Gene
This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
GeneCards Summary for IQCB1 Gene
IQCB1 (IQ Motif Containing B1) is a Protein Coding gene. Diseases associated with IQCB1 include Senior-Loken Syndrome 5 and Leber Congenital Amaurosis. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include binding and calmodulin binding.
UniProtKB/Swiss-Prot for IQCB1 Gene
Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655).