Protein Summary
May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex. This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
- ENST00000261588
- ENSP00000261588
- ENSG00000047578
- JBTS26
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
transcription factor | 0.76 | ||
histone modification site profile | 0.72 | ||
transcription factor binding site profile | 0.72 | ||
kinase perturbation | 0.66 | ||
cell line | 0.62 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 4.1 (req: < 5)
Gene RIFs: 7 (req: <= 3)
Antibodies: 30 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 4.1 (req: >= 5)
Gene RIFs: 7 (req: > 3)
Antibodies: 30 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Term: 0
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0