PMID:19430481
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
PMID:21565611
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
PMID:26638075
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
PMID:30471718
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
PMID:40739040
Multi-proteomic profiling of the varicella-zoster virus-host interface reveals host susceptibilities to severe infection.
PMID:17558409
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
PMID:21399614
Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000052
Gene Ontology annotation based on curation of immunofluorescence data
Reactome:R-HSA-5617816
RAB3IP stimulates nucleotide exchange on RAB8A
Reactome:R-HSA-5626681
Recruitment of transition zone proteins
Reactome:R-HSA-5638009
CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal
PMID:28401750
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.
GO_REF:0000117
Electronic Gene Ontology annotations created by ARBA machine learning models
PMID:19464661
Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor.
GO_REF:0000033
Annotation inferences using phylogenetic trees
PMID:26595381
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
PMID:17558407
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
PMID:26982032
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.