CFAP53 Gene Summary [Human]
This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | CFAP53 |
| Official Name | cilia and flagella associated protein 53 [Source:HGNC Symbol;Acc:HGNC:26530] |
| Ensembl ID | ENSG00000172361 |
| Bio databases IDs | |
| Aliases | cilia and flagella associated protein 53 |
| Synonyms | 4933415I03Rik, CCDC11, cilia and flagella associated protein 53, HTX6, RGD1306734 |
| 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 CFAP53 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Trichohyalin-plectin-homology domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- ciliary transition zone
- cilia
- manchette
- centrosome
- axonemes
- spindle pole
- sperm tail
- glial cell projections
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFAP53 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
- cilium morphogenesis
- cilium movement
- determination of left/right symmetry
Cellular Component
Where in the cell the gene product is active
- axonemal microtubule
- centriole
- centriolar satellite
- spindle pole
- ciliary transition zone
- extracellular region
- sperm flagellum
- manchette
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding