|Other Names||IQ calmodulin-binding motif-containing protein 1, Nephrocystin-5, p53 and DNA damage-regulated IQ motif protein, PIQ, IQCB1, KIAA0036, NPHP5|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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).|
|Cellular Location||Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6|
|Tissue Location||Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors.|
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This gene encodes a nephrocystin protein that interactswith calmodulin and the retinitis pigmentosa GTPase regulatorprotein. The encoded protein has a central coiled-coil region andtwo calmodulin-binding IQ domains. It is localized to the primarycilia of renal epithelial cells and connecting cilia ofphotoreceptor cells. The protein is thought to play a role inciliary function. Defects in this gene result in Senior-Lokensyndrome type 5. Alternative splicing results in multipletranscript variants.
Hildebrandt, F., et al. J. Am. Soc. Nephrol. 20(1):23-35(2009)Schafer, T., et al. Hum. Mol. Genet. 17(23):3655-3662(2008)Luo, X., et al. Cancer Res. 65(23):10725-10733(2005)le Maire, A., et al. Proteins 59(2):347-355(2005)Mollet, G., et al. Hum. Mol. Genet. 14(5):645-656(2005)
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