CFAP52 Gene Summary [Human]
WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | CFAP52 |
| Official Name | cilia and flagella associated protein 52 [Source:HGNC Symbol;Acc:HGNC:16053] |
| Ensembl ID | ENSG00000166596 |
| Bio databases IDs | |
| Aliases | cilia and flagella associated protein 52, WD40-repeat protein upregulated in HCC |
| Synonyms | 1700019F09RIK, 4933417B11Rik, cilia and flagella associated protein 52, HTX10, Usp43, WDR16, WDRPUH |
| 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 CFAP52 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- protein binding
Pathways
Biological processes and signaling networks where the CFAP52 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- male infertility
- multiple morphological sperm flagellar abnormalities
- spermatogenic failure 16
- autosomal visceral heterotaxy type 10 with male infertility
- situs inversus totalis
- autosomal visceral heterotaxy type 10
regulated by
role in cell
- expression in
- quantity
- formation
- formation in
- motility
- development
- sliding in
- sliding
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
- axonemes
- sperm midpiece
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFAP52 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sperm motility
Cellular Component
Where in the cell the gene product is active
- axonemal microtubule
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding