DNAAF1 Gene Summary [Human]
The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Retained Intron |
| Official Symbol | DNAAF1 |
| Official Name | dynein axonemal assembly factor 1 [Source:HGNC Symbol;Acc:HGNC:30539] |
| Ensembl ID | ENSG00000154099 |
| Bio databases IDs | |
| Aliases | dynein axonemal assembly factor 1, outer row dynein assembly 7 homolog (Chlamydomonas) |
| Synonyms | 4930457P18Rik, CILD13, DAU1, dynein axonemal assembly factor 1, dynein, axonemal assembly factor 1, dynein, axonemal, assembly factor 1, LRRC50, m4Bei, ODA7, RGD1310542, swt |
| 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 DNAAF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucine-rich repeat
- protein phosphatase 1 regulatory subunit 42
- binding protein
- Leucine rich repeat
- Leucine Rich repeats (2 copies)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- Axonemal Dynein Outer Arm
- Axonemal Dynein
- Axonemal Dynein Inner Arm
disease
- systemic lupus erythematosus
- situs ambiguus
- primary ciliary dyskinesia
- primary ciliary dyskinesia type 13
role in cell
- assembly
- 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
- Plasma Membrane
- axonemes
- cytosol
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAAF1 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
- outer dynein arm assembly
- cilium morphogenesis
- determination of digestive tract left/right asymmetry
- axoneme assembly
- cilium movement
- motile cilium assembly
- left/right pattern formation
- regulation of cilium beat frequency
- axonemal dynein complex assembly
- heart looping
- inner dynein arm assembly
- determination of liver left/right asymmetry
- determination of pancreatic left/right asymmetry
- lung development
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- nuclear speck
- spindle pole
- cytosol
- extracellular region
- axoneme
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- dynein complex binding