Tbio CCDC40 Coiled-coil domain-containing protein 40

Protein Summary

Description

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974). This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Uniprot Accession IDs

• Q4G0X9
• A8MTD2
• C9JTI9
• C9JTJ0
• C9JXW1
• J3QSY2
• Q6PE47
• Q9HCD2
• Q9NWL5

Gene Name

• CCDC40

Ensembl ID

• ENST00000269318
• ENSP00000269318
• ENSG00000141519
• ENST00000374876
• ENSP00000364010
• ENST00000374877
• ENSP00000364011
• ENST00000397545
• ENSP00000380679

Symbol

• KIAA1640
• CILD15
• FAP172

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.96
transcription factor	0.72
microRNA	0.68
cell line	0.67
transcription factor binding site profile	0.57

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: 23.44   (req: < 5)

Gene RIFs: 8   (req: <= 3)

Antibodies: 48   (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: 23.44   (req: >= 5)

Gene RIFs: 8   (req: > 3)

Antibodies: 48   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

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