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MIRAGE
cilia and flagella associated protein 53
Summary
- Gene Symbol
-
- CFAP53
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Ciliopathy
- Cilium biogenesis/degradation
- Coiled coil
- Cytoskeleton
- Developmental protein
- Disease variant
- Flagellum
- Heterotaxy
- Proteomics identification
- Reference proteome
- Spermatogenesis
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96M91 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cilium movement | ||
| determination of left/right symmetry | ||
| determination of left/right symmetry | ||
| flagellated sperm motility | ||
| cilium assembly |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| spindle pole | ||
| manchette | ||
| extracellular region | ||
| centriole | ||
| axonemal microtubule |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- cilia- and flagella-associated protein 53
- Functional Category
-
- G: Carbohydrate transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| CFAP53/TCHP |
| Trichohyalin-plectin-homology domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050545 | visceral heterotaxy |
