Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

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

Electronic Gene Ontology annotations created by ARBA machine learning models

Combined Automated Annotation using Multiple IEA Methods

Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans.

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.

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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

Identification of preferred protein interactions by phage-display of the human Src homology-3 proteome.

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.

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

Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

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.

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

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

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

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

Preferred SH3 domain partners of ADAM metalloproteases include shared and ADAM-specific SH3 interactions.

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

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.

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.

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.