Gene
dnaaf1
- ID
- ZDB-GENE-031114-4
- Name
- dynein axonemal assembly factor 1
- Symbol
- dnaaf1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Exhibits dynein complex binding activity. Involved in several processes, including axoneme assembly; convergent extension involved in gastrulation; and embryonic heart tube development. Predicted to localize to axoneme. Used to study autosomal dominant polycystic kidney disease; seminoma; and testicular germ cell cancer. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Is expressed in several structures, including chordo neural hinge; forerunner cell group; intermediate mesoderm; nervous system; and pronephric duct. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 29 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary ciliary dyskinesia 13 | Alliance | Ciliary dyskinesia, primary, 13 | 613193 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Leucine-rich repeat | Leucine-rich repeat domain superfamily |
|---|---|---|---|
|
UniProtKB:F1Q654
|
562 | ||
|
UniProtKB:Q7ZV84
|
555 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| aberrant processed transcript |
dnaaf1-202
(1)
|
Havana | 604 nt | |
| mRNA |
dnaaf1-201
(1)
|
Havana | 2594 nt | |
| mRNA |
dnaaf1-203
(1)
|
Havana | 550 nt |
Interactions and Pathways
No data available
Plasmids
No data available