Gene
dnaaf6
- ID
- ZDB-GENE-040722-2
- Name
- dynein axonemal assembly factor 6
- Symbol
- dnaaf6 Nomenclature History
- Previous Names
-
- mgc35261l
- pih1d3
- twister (2)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Involved in axonemal dynein complex assembly. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia. Is expressed in Kupffer's vesicle; floor plate; otic placode; otic vesicle; and pronephric duct. Orthologous to human DNAAF6 (dynein axonemal assembly factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary ciliary dyskinesia 36 | Alliance | Ciliary dyskinesia, primary, 36, X-linked | 300991 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| primary ciliary dyskinesia | dnaaf6hi1392Tg/hi1392Tg | standard conditions | Olcese et al., 2017 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Dynein axonemal assembly factor 6 | PIH1D1/2/3, CS-like domain |
|---|---|---|---|
|
UniProtKB:Q6IVV7
|
194 | ||
|
UniProtKB:A0A8M3AQ07
|
91 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pih1d3-201
(1)
|
Ensembl | 1,001 nt | ||
| ncRNA |
pih1d3-002
(1)
|
Ensembl | 779 nt | ||
| ncRNA |
pih1d3-003
(1)
|
Ensembl | 744 nt |
Interactions and Pathways
No data available
Plasmids
No data available