CEP290
Gene Ontology Biological Process
- cilium assembly [IMP]
- cilium morphogenesis [IMP]
- establishment or maintenance of cell polarity [IMP]
- positive regulation of intracellular protein transport [ISO]
- positive regulation of transcription, DNA-templated [ISO]
- protein transport [IMP]
- regulation of cAMP metabolic process [IMP]
- regulation of establishment of protein localization [ISO]
- retina development in camera-type eye [IMP]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
F13B
Affinity Capture-MS
An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and the associated interaction partner is identified by mass spectrometric methods.
Publication
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and cerebellar/neural tube malformation. Whether defects in kidney, retinal, or neural disease primarily involve ciliary, Hedgehog, or cell polarity pathways remains unclear. Using high-confidence proteomics, we identified 850 interactors copurifying with nine NPHP/JBTS/MKS proteins and discovered three connected modules: "NPHP1-4-8" functioning at the ... [more]
Throughput
- High Throughput
Related interactions
Interaction | Experimental Evidence Code | Dataset | Throughput | Score | Curated By | Notes |
---|---|---|---|---|---|---|
F13B CEP290 | Co-fractionation Co-fractionation Interaction inferred from the presence of two or more protein subunits in a partially purified protein preparation. If co-fractionation is demonstrated between 3 or more proteins, then add them as a complex. | High | 0.868 | BioGRID | 2678688 |
Curated By
- BioGRID