A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Multi-proteomic profiling of the varicella-zoster virus-host interface reveals host susceptibilities to severe infection.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Combined Automated Annotation using Multiple IEA Methods
Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
RAB3IP stimulates nucleotide exchange on RAB8A
Recruitment of transition zone proteins
CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.
Electronic Gene Ontology annotations created by ARBA machine learning models
Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor.
Annotation inferences using phylogenetic trees
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.