Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.

Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.

The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.

Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

Multi-proteomic profiling of the varicella-zoster virus-host interface reveals host susceptibilities to severe infection.

NPHP4 protein binds LATS proteins

RAB3IP stimulates nucleotide exchange on RAB8A

Recruitment of transition zone proteins

CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.