GO_REF:0000033
Annotation inferences using phylogenetic trees
PMID:16682973
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
PMID:18694559
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
PMID:18723859
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
PMID:21565611
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
PMID:21620453
Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis.
PMID:22441691
Neurl4, a novel daughter centriole protein, prevents formation of ectopic microtubule organizing centres.
PMID:22446187
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
PMID:22797915
The centriolar satellite protein Cep131 is important for genome stability.
PMID:22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
PMID:23446637
Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
PMID:23644468
CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base.
PMID:23943788
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
PMID:24421332
The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.
PMID:24550735
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
PMID:24816561
Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability.
PMID:25416956
A proteome-scale map of the human interactome network.
PMID:25552655
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
PMID:26638075
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
PMID:28235840
The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.
PMID:28514442
Architecture of the human interactome defines protein communities and disease networks.
PMID:32296183
A reference map of the human binary protein interactome.
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
PMID:36606424
CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins.
Reactome:R-HSA-6798749
Exocytosis of specific granule lumen proteins
PMID:28401750
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.
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:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
PMID:14654843
Proteomic characterization of the human centrosome by protein correlation profiling.
PMID:24648492
Casein kinase 1δ functions at the centrosome and Golgi to promote ciliogenesis.
PMID:21399614
Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
PMID:27623382
A Conserved Role for Girdin in Basal Body Positioning and Ciliogenesis.
Reactome:R-HSA-2574840
AJUBA facilitates AURKA autophosphorylation
Reactome:R-HSA-2574845
AJUBA binds centrosome-associated AURKA
Reactome:R-HSA-3000310
AURKA phosphorylates PLK1
Reactome:R-HSA-3000319
BORA binds PLK1 and AURKA
Reactome:R-HSA-380272
Plk1-mediated phosphorylation of Nlp
Reactome:R-HSA-380283
Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
Reactome:R-HSA-380294
Loss of C-Nap-1 from centrosomes
Reactome:R-HSA-380303
Dissociation of Phospho-Nlp from the centrosome
Reactome:R-HSA-380311
Recruitment of Plk1 to centrosomes
Reactome:R-HSA-380316
Association of NuMA with microtubules
Reactome:R-HSA-380455
Recruitment of CDK11p58 to the centrosomes
Reactome:R-HSA-380508
Translocation of NuMA to the centrosomes
Reactome:R-HSA-5617816
RAB3IP stimulates nucleotide exchange on RAB8A
Reactome:R-HSA-5626220
C2CD3 binds the mother centriole
Reactome:R-HSA-5626223
C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
Reactome:R-HSA-5626227
CP110 and CEP97 dissociate from the centriole
Reactome:R-HSA-5626228
The distal appendage proteins recruit TTBK2
Reactome:R-HSA-5626681
Recruitment of transition zone proteins
Reactome:R-HSA-5626699
MARK4 binds ODF2 in the centriole
Reactome:R-HSA-5638009
CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal
Reactome:R-HSA-8853405
TPX2 binds AURKA at centrosomes
Reactome:R-HSA-8853419
TPX2 promotes AURKA autophosphorylation
PMID:26982032
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
PMID:19946888
Defining the membrane proteome of NK cells.
PMID:24051377
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.
PMID:26386044
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
PMID:16632484
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
PMID:21725307
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
PMID:23650620
Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.
file:human/CEP290/CEP290-source-evidence.json
CEP290 bounded source evidence and superseded authored-annotation provenance