IQ motif containing B1
Symbol
IQCB1
(may also be known as: None)
Organism
Human
Description
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. [provided by RefSeq, Nov 2009]
Orthologs
| Symbol | Species | |
|---|---|---|
| iqcb1 | Danio rerio | |
| Iqcb1 | Mus musculus | |
| Iqcb1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0042384 | cilium assembly | biological_process | |
| GO:0045494 | photoreceptor cell maintenance | biological_process | |
| GO:0048496 | maintenance of organ identity | biological_process | |
| GO:0001750 | photoreceptor outer segment | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005813 | centrosome | cellular_component | |
| GO:0005856 | cytoskeleton | cellular_component | |
| GO:0032391 | photoreceptor connecting cilium | cellular_component | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0005516 | calmodulin binding | molecular_function | |