NPHP1
MIM.607100 2q13
Funcions
NPHP1 encodes a novel protein, nephrocystin-1, that interacts with components of cell-cell and cell-matrix signalling, such as breast cancer anti-oestrogen resistance 1 (BCAR1), protein tyrosine kinase 2b (PTK2B), tensin-46, filamin-A (FLNA) and filamin-B (FLNB).
NPHP1 also interacts with the products of other NPHP genes such as nephrocystin-2/inversin-12 (NPHP2), nephrocystin-3 (NPHP3) and nephrocystin-4 (NPHP4).
Nephrocystin-1 (NPHP1) is localized at adherens junctions of renal epithelial cells. This finding, together with the fact that it directly interacts with the focal adhesion protein BCAR1, implicates nephrocystin-1 in signalling processes at adherens junctions and focal adhesions, which are involved in cell-cell and cell-basement membrane signalling, respectively.
Pathology
germline mutations in 80% of patients with nephronophthisis (MIM.256100)
homozygous deletion of the NPHP1 gene in Senior-Loken syndrome (MIM.266900), the association of nephronophthisis with autosomal recessive retinitis pigmentosa
homozygous deletion of the NPHP1 gene in mild form of Joubert syndrome (JS) (MIM.213300)
germline mutataions in nephronophthisis (MIM.256100) associated with Cogan-type congenital ocular motor apraxia (COMA) (MIM.257550)
See also: