| Gene Information | |
|---|---|
| Gene Name | CBE1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 262 |
| Protein Names | Spermatid-specific manchette-related protein 1 (Ciliated bronchial epithelial protein 1) (Testis development protein NYD-SP22) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8NCR6 |
| Gene Card | C9orf24 |
| Uniprot ID | Q8NCR6 |
| Pfam | PF15181 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in epithelial cells of nasal polyps and in intact epithelium of bronchial biopsies from subjects with and without asthma. Strong expression in columnar cells with little or no expression in basal epithelial cells along the basement membrane. Strongly expressed in ciliated epithelial cells with lower levels in goblet cells (at protein level). {ECO:0000269|PubMed:15242845}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs17852663 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus {ECO:0000269|PubMed:15242845}. Cytoplasm {ECO:0000269|PubMed:15242845}. Note=Localizes to the manchette in elongating spermatids (By similarity). Predominantly perinuclear in bronchial epithelial cells but also detected in the nucleus in some primary epithelial cells and in a number of cell lines. {ECO:0000250}. |
| Mouse PG classification | NA |
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