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This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001822 [kidney development] GO:0001947 [heart looping] GO:0003283 [atrial septum development] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0005929 [cilium] GO:0006996 [organelle organization] GO:0007368 [determination of left/right symmetry] GO:0016055 [Wnt signaling pathway] GO:0030324 [lung development] GO:0035469 [determination of pancreatic left/right asymmetry] GO:0045494 [photoreceptor cell maintenance] GO:0048496 [maintenance of organ identity] GO:0060027 [convergent extension involved in gastrulation] GO:0060271 [cilium morphogenesis] GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry] GO:0060993 [kidney morphogenesis] GO:0071908 [determination of intestine left/right asymmetry] GO:0071909 [determination of stomach left/right asymmetry] GO:0071910 [determination of liver left/right asymmetry] GO:0072189 [ureter development] GO:0072372 [primary cilium] GO:0090090 [negative regulation of canonical Wnt signaling pathway] GO:2000095 [regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000167 [regulation of planar cell polarity pathway involved in neural tube closure]
