Anks3 interacts with nephronophthisis proteins and is required for normal renal development

Kidney Int. 2015 Jun;87(6):1191-200. doi: 10.1038/ki.2015.17. Epub 2015 Feb 11.

Abstract

Nephronophthisis (NPH) is a heterogenetic autosomal recessive disorder associated with kidney cysts and multiple extrarenal manifestations. The disease-associated gene products (NPHPs) typically contain domains involved in protein-protein interactions, and appear to exert their tissue-specific functions in large protein complexes. Most NPHPs localize to the cilium and/or basal body; however, their precise molecular functions remain largely unknown. We have recently identified the SAM-domain containing protein Anks3 as a potential ANKS6/NPHP16-interacting protein, and report now that Anks3 interacts with several NPHPs as well as with Bicc1 and the oxygen-sensitive asparaginyl hydroxylase HIF1AN. Knockdown of anks3 in zebrafish embryos was associated with NPH-typical manifestations, including ciliary abnormalities, cyst formation, and laterality defects. In multi-ciliated epidermal cells, GFP-tagged Anks3 localizes to the cilium, but forms large aggregates in the absence of NPHP1, indicating that the negatively charged NPHP1 curtails the polymerization of Anks3. Collectively, these findings suggest that Anks3 is a cilia-associated molecule that partners with the ANKS6- and via NPHP1 to the NPHP1-4-8 module. Thus, developmental defects associated with Anks3 depletion in zebrafish suggest that ANKS3 mutations may cause NPH or NPH-like disease in humans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism
  • Animals
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism*
  • Cilia / metabolism
  • Cytoskeletal Proteins
  • Gene Knockdown Techniques
  • HEK293 Cells
  • Humans
  • Kidney / abnormalities
  • Kidney / embryology*
  • Kidney Diseases, Cystic / metabolism
  • Membrane Proteins / metabolism
  • Mixed Function Oxygenases / metabolism
  • NIMA-Related Kinases
  • Nuclear Proteins / metabolism
  • Polymerization
  • Protein Kinases / metabolism
  • Proteins / metabolism
  • RNA-Binding Proteins / metabolism
  • Repressor Proteins / metabolism
  • Situs Inversus / genetics
  • Xenopus
  • Xenopus Proteins / genetics
  • Xenopus Proteins / metabolism*
  • Zebrafish
  • Zebrafish Proteins / genetics*
  • Zebrafish Proteins / metabolism

Substances

  • ANKS3 protein, human
  • ANKS3 protein, zebrafish
  • ANKS6 protein, human
  • Adaptor Proteins, Signal Transducing
  • Bicc1 protein, human
  • Carrier Proteins
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human
  • NPHP4 protein, human
  • Nuclear Proteins
  • Proteins
  • RNA-Binding Proteins
  • RPGRIP1L protein, human
  • Repressor Proteins
  • Xenopus Proteins
  • Zebrafish Proteins
  • Mixed Function Oxygenases
  • HIF1AN protein, human
  • Protein Kinases
  • NEK8 protein, human
  • NIMA-Related Kinases