CCDC40 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CCDC40 |
| Official Name | coiled-coil domain containing 40 [Source:HGNC Symbol;Acc:HGNC:26090] |
| Ensembl ID | ENSG00000141519 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 40 |
| Synonyms | B930008I02Rik, CFAP172, CILD15, coiled-coil domain 40 molecular ruler complex subunit, coiled-coil domain containing 40, FAP172 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CCDC40 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- chromosome segregation protein SMC, common bacterial type
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- BRE1 E3 ubiquitin ligase
- helix-rich Mycoplasma protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary ciliary dyskinesia
- primary ciliary dyskinesia type 15
- Kartagener syndrome
- DOCK8 deficiency
- Usher syndrome
- primary ciliary dyskinesia 3
- situs ambiguus
- lung carcinoma
- lung carcinoma process
regulates
- Axonemal Dynein Inner Arm
- Axonemal Dynein
role in cell
- assembly
- motility
- movement
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- motile cilia
- cilia
- axonemes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC40 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cilium movement involved in determination of left/right asymmetry
- determination of digestive tract left/right asymmetry
- epithelial cilium movement
- axoneme assembly
- cilium movement
- motile cilium assembly
- regulation of cilium beat frequency
- sperm motility
- axonemal dynein complex assembly
- heart looping
- inner dynein arm assembly
- determination of liver left/right asymmetry
- lung development
- determination of pancreatic left/right asymmetry
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cilium
- extracellular region
- axoneme