DNAAF5 Gene Summary [Human]
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Details
| Type | Protein Coding |
| Official Symbol | DNAAF5 |
| Official Name | dynein axonemal assembly factor 5 [Source:HGNC Symbol;Acc:HGNC:26013] |
| Ensembl ID | ENSG00000164818 |
| Bio databases IDs | |
| Aliases | dynein axonemal assembly factor 5 |
| Synonyms | C76907, CILD18, dynein axonemal assembly factor 5, dynein, axonemal assembly factor 5, dynein, axonemal, assembly factor 5, HEATR2, LOC100047946 |
| 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 DNAAF5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- dynein intermediate chain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute coronary syndrome
- primary ciliary dyskinesia type 18
- primary ciliary dyskinesia
- postmenopausal osteoporosis
- infection by Influenza A virus subtype H1N1
role in cell
- binding in
- 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
- microtubule cytoskeleton
- organelle
- cytosol
- nucleoli
- mitotic spindle
- perinuclear focus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAAF5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- outer dynein arm assembly
- cilium movement
- inner dynein arm assembly
Cellular Component
Where in the cell the gene product is active
- motile cilium
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- dynein intermediate chain binding