IQ calmodulin-binding motif-containing protein 1

Definition

Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. 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.

References:

[1]. Liyun Sang, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28. [Content Brief]

[2]. Marine Barbelanne, et al. Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. Hum Mol Genet. 2013 Jun 15;22(12):2482-94. [Content Brief]

[3]. Marine Barbelanne, et al. Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. Hum Mol Genet. 2015 Apr 15;24(8):2185-200. [Content Brief]

生物医学辞典

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