NPHP1 Antibody – Rabbit Polyclonal

NPHP1: 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. Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts with INVS and NPHP3. Interacts with PACS1; the interaction is dependent on NPHP1 phosphorylation by CK2. Interatcs with KIF7. Interacts with AHI1 and TNK2. Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors. 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. Belongs to the nephrocystin-1 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion

Chromosomal Location of Human Ortholog: 2q13

Cellular Component: adherens junction; cytoskeleton; cytosol; intercellular junction; membrane; photoreceptor connecting cilium; tight junction

Molecular Function: protein binding; structural molecule activity

Biological Process: actin cytoskeleton organization and biogenesis; cell projection organization and biogenesis; cell-cell adhesion; excretion; organelle organization and biogenesis; retina development in camera-type eye; signal transduction; spermatid differentiation; visual behavior

Disease: Joubert Syndrome 4; Nephronophthisis 1; Senior-loken Syndrome 1