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CEP290
Description
centrosomal protein 290
Image
No pdb structure
GO Annotations
Cellular Component
Gamma-tubulin Complex
Extracellular Region
Nucleus
Cytoplasm
Centrosome
Centriole
Cytosol
Membrane
Photoreceptor Connecting Cilium
Protein-containing Complex
Centriolar Satellite
Specific Granule Lumen
Ciliary Transition Zone
MKS Complex
Molecular Function
Protein Binding
Identical Protein Binding
Microtubule Minus-end Binding
Biological Process
G2/M Transition Of Mitotic Cell Cycle
Regulation Of G2/M Transition Of Mitotic Cell Cycle
Protein Transport
Hindbrain Development
Otic Vesicle Formation
Eye Photoreceptor Cell Development
Neutrophil Degranulation
Positive Regulation Of Transcription, DNA-templated
Pronephros Development
Cilium Assembly
Regulation Of Establishment Of Protein Localization
Positive Regulation Of Intracellular Protein Transport
Ciliary Basal Body-plasma Membrane Docking
Pathways
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
Neutrophil degranulation
AURKA Activation by TPX2
Drugs
Diseases
Leber congenital amaurosis (LCR)
Bardet-Biedl syndrome (BBS)
Joubert syndrome
Senior-Loken syndrome
Meckel syndrome (MKS); Meckel-Gruber syndrome
GWAS
Clozapine-induced agranulocytosis (
25187353
)
Mild influenza (H1N1) infection (
26379185
)
Interacting Genes
5 interacting genes:
BBLN
CC2D2A
KIAA1328
MAPK10
PICK1
Entrez ID
80184
HPRD ID
Ensembl ID
ENSG00000198707
Uniprot IDs
A0A6Q8PGB1
J3KNF5
O15078
Q05BJ6
PDB IDs
Enriched GO Terms of Interacting Partners
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