nephrocystin 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomal+12 more panels — install the extension to see the full list inline on any page.
nephronophthisis 1
Joubert syndrome with renal defect
nephronophthisis
Senior-Loken syndrome 1
Senior-Loken syndrome
hereditary disease
Joubert syndrome and related disorders
Retinal dystrophy
Bardet-Biedl syndrome
Joubert syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Nephrocystin-1
Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). 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 (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity)
Curated MONDO disease pages that list NPHP1 among their top associated genes.
NPHP1 · O15259
Mean pLDDT
75.9/ 100
Confident
732 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
