DISEASES

Disease-gene associations mined from literature

Literature associating NPHP1 and nephronophthisis 1

NPHP1 [ENSP00000313169]

Juvenile nephronophthisis 1 protein; 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 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). 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 (By similarity).

Synonyms:  NPHP1,  NPHP1p,  hNPHP1,  B4DQY0,  C9J082 ...

Linkouts:  STRING  Pharos  UniProt  OMIM