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IQCB1
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.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Spermatocytes, Spermatogonia)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enhanced (U-698)
Interaction
Interacts with CEP290/NPHP6; IQCB1/NPHP5 and CEP290 are proposed to form a functional NPHP5-6 module/NPHP6; localized to the centrosome. Interacts with calmodulin, ATXN10 (PubMed:16322217, PubMed:15723066, PubMed:18723859, PubMed:21565611, PubMed:23446637, PubMed:25552655). Interacts with NPHP1, INVS, NPHP4 and RPGRIP1L; these interactions likely require additional interactors (By similarity). Associates with the BBSome complex; interacts with BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9 (PubMed:25552655).
Molecular function
Calmodulin-binding
More Types Infomation
- Rabbit Anti-Human IQCB1 Antibody (MOB-013CQ)
-
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC, IF
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For Research Use Only. Not For Clinical Use.