background:
Required for renal tubular integrity.
Tissue specificity: Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma.
Function:
Required for renal tubular integrity. May regulate localcytoskeletal structure in kidney tubule epithelial cells. Mayregulate ciliary biogenesis through targeting of proteins to thecilia (By similarity).
Subunit:
Interacts with PKD2; may regulate PKD2 targeting to thecilium (By similarity).
Subcellular Location:
Cytoplasm (By similarity). Cytoplasm,cytoskeleton. Cell projection, cilium (By similarity).Note=Predominantly cytoplasmic. Localizes to the proximal region ofthe primary cilium and is not observed in dividing cells.
Tissue Specificity:
Highest expression in thyroid, adrenal glandand skin. Low levels in spleen, colon and uterus. Overexpressed inbreast tumors, with highest expression in infiltrating ductalcarcinomas and moderate levels in mucinous adenocarcinoma.
DISEASE:
Defects in NEK8 are the cause of nephronophthisis type 9(NPHP9) [MIM:613824]. NPHP9 is an autosomal recessive disorderresulting in end-stage renal disease. It is a progressivetubulo-interstitial kidney disorder histologically characterized bymodifications of the tubules with thickening of the basementmembrane, interstitial fibrosis and, in the advanced stages,medullary cysts.
Similarity:
Belongs to the protein kinase superfamily. NEK Ser/Thrprotein kinase family. NIMA subfamily.
Contains 1 protein kinase domain.
Contains 5 RCC1 repeats.
Database links:
UniProtKB/Swiss-Prot: Q86SG6.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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