Tbio CEP104 Centrosomal protein of 104 kDa

Protein Summary

Description

Required for ciliogenesis and for structural integrity at the ciliary tip. This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

Uniprot Accession IDs

• O60308
• A0A024R4G3
• Q5JSQ3
• Q5SR24
• Q5SR25
• Q6PKF5
• Q86W32
• Q86X14
• Cep104

Gene Name

• CEP104

Ensembl ID

• ENST00000378223
• ENSP00000367468
• ENSG00000116198
• ENST00000378230
• ENSP00000367476

Symbol

• KIAA0562
• GlyBP
• ROC22
• JBTS25
• CFAP256
• KIAA0562

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.89
cell type or tissue	0.74
tissue sample	0.65
molecular function	0.56
cell line	0.54

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

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: 19.23   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 87   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 19.23   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 87   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0