CEP290

Gene Name		centrosomal protein 290kDa
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Gamma-tubulin Complex Nucleus Cytoplasm Centrosome Cytosol Membrane Photoreceptor Connecting Cilium Centriolar Satellite TCTN-B9D Complex Ciliary Basal Body Protein Complex
	Molecular Function	Protein Binding Microtubule Minus-end Binding
	Biological Process	G2/M Transition Of Mitotic Cell Cycle Mitotic Cell Cycle Organelle Organization Establishment Or Maintenance Of Cell Polarity Protein Transport Regulation Of CAMP Metabolic Process Hindbrain Development Otic Vesicle Formation Cilium Assembly Eye Photoreceptor Cell Development Positive Regulation Of Transcription, DNA-templated Pronephros Development Retina Development In Camera-type Eye Cilium Morphogenesis Regulation Of Establishment Of Protein Localization Positive Regulation Of Intracellular Protein Transport
Pathways		Organelle biogenesis and maintenance Loss of proteins required for interphase microtubule organizationÂ from the centrosome Loss of Nlp from mitotic centrosomes G2/M Transition Assembly of the primary cilium Centrosome maturation Regulation of PLK1 Activity at G2/M Transition Mitotic G2-G2/M phases Anchoring of the basal body to the plasma membrane Recruitment of mitotic centrosome proteins and complexes Cell Cycle, Mitotic
Drugs
Diseases
GWAS
Protein-protein Interactions		2 interactors: C9orf16 MAPK10
Entrez ID		80184
HPRD ID
Ensembl ID		ENSG00000198707
Uniprot IDs		O15078 Q05BJ6
PDB IDs
Enriched GO Terms of Interacting Partners?		JUN Phosphorylation
Tagcloud ?		aplasia cerebellar cerebello cilia ciliopathy collecting cystic displays exploited giving gli3 hedgehog hh impairments implicate jbts joubert kidneys lef1 nephronophthisis newborn nphp nphp6 oculo purmorphamine spheroid tcf1 therapeutically vermis