Recombinant Human IQ calmodulin-binding motif-containing protein 1 (IQCB1)

Uniprot Id

Q15051

Target Species

Human

Target Name

IQCB1

Target Full Name

IQ calmodulin-binding motif-containing protein 1

Target Function

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.

Target Involvement

Senior-Loken syndrome 5 (SLSN5); Leber congenital amaurosis 10 (LCA10)

Target Subcellular 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.

Target Tissue Specificity

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.

Target Synonyms

IQ calmodulin-binding motif containing 1; IQ calmodulin-binding motif-containing protein 1; IQ motif containing B1; Iqcb1; IQCB1_HUMAN; KIAA0036; Nephrocystin-5; NPHP5; p53 and DNA damage-regulated IQ motif protein; SLSN5