Tissue Specificity | Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level). Expressed in the renal collecting duct (at protein level). |
Post Translational Modifications | Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia. |
Function | Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis. |
Protein Name | Nephrocystin-1Juvenile Nephronophthisis 1 Protein |
Database Links | Reactome: R-HSA-5620912 |
Cellular Localisation | Cell JunctionAdherens JunctionCell ProjectionCiliumCytoplasmCytoskeletonCilium AxonemeTight JunctionIn The Retinal Photoreceptor Cell LayerLocalizes At The Connecting CiliumColocalizes With E-Cadherin And Bcar1 At Or Near The Cell-Cell Adherens JunctionsLocalized To Respiratory Cilia AxonemeLocalized To The Transition Zone Of Respiratory CiliaLocalized To The Transition Zone Of Photoreceptor-Connecting Cilia And Renal MonociliaIn Cultured Renal CellsIt Localizes Diffusely In The Cytoplasm ButAs Cells Approach ConfluenceIt Accumulates At Basolateral Tight Junctions |
Alternative Antibody Names | Anti-Nephrocystin-1 antibodyAnti-Juvenile Nephronophthisis 1 Protein antibodyAnti-NPHP1 antibodyAnti-NPH1 antibody |
Information sourced from Uniprot.org