Gene
cfap53
- ID
- ZDB-GENE-060503-508
- Name
- cilia and flagella associated protein 53
- Symbol
- cfap53 Nomenclature History
- Previous Names
-
- ccdc11
- si:ch211-257i19.2
- zgc:153145
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Involved in cilium assembly and epithelial cilium movement involved in determination of left/right asymmetry. Localizes to axoneme and ciliary base. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in visceral heterotaxy. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; otic placode; pronephros; and spinal cord neural tube. Orthologous to human CFAP53 (cilia and flagella associated protein 53).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 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 |
|---|---|---|---|
| visceral heterotaxy | Alliance | Heterotaxy, visceral, 6, autosomal recessive | 614779 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| visceral heterotaxy | cfap53hu10478/hu10478 | standard conditions | Noël et al., 2016 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CFAP53/TCHP | Trichohyalin-plectin-homology domain |
|---|---|---|---|
|
UniProtKB:A0A0R4IFG5
|
519 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cfap53-201
(1)
|
Ensembl | 2,188 nt |
Interactions and Pathways
No data available
Plasmids
No data available