DEUP1 (Deuterosomal Protein 1)
Key regulator of centriole amplification and ciliogenesis
Gene Information Card
| Symbol | DEUP1 |
|---|---|
| Full Name | Deuterosomal Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 100287896 ncbi.nlm.nih.gov/gene/100287896 |
| Ensembl ID | ENSG00000205639 |
| UniProt ID | Q5T654 |
| OMIM ID | 617577 |
| HGNC ID | 37232 |
| Aliases | C13orf38, CCDC135, DEUP |
Description
DEUP1 encodes deuterosomal protein 1, a component of the deuterosome that is required for centriole amplification in multiciliated cells. It plays a critical role in the formation of multiple centrioles necessary for the generation of motile cilia. DEUP1 is specifically expressed in tissues undergoing multiciliogenesis, such as the respiratory tract and ependyma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia 51 (CILD51) | Loss-of-function mutations in DEUP1 impair deuterosome-mediated centriole amplification, leading to reduced numbers of motile cilia and defective mucociliary clearance. | OMIM #618063; PMID: 31539493 |
| Asthenozoospermia (sperm motility defects) | DEUP1 deficiency disrupts centriole biogenesis in sperm flagella, causing reduced sperm motility. | PMID: 31539493 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Fallopian tube | 5.8 | Low |
| Trachea | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 0.0 | Not expressed (non-multiciliated) |
| MCF7 | 0.0 | Not expressed |
| HEK 293 | 0.0 | Not expressed |
| BEAS-2B (bronchial epithelial) | 2.3 | Low expression |
| HepG2 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52*) | Nonsense | Rare | Loss of function; premature stop codon truncates protein |
| c.1039C>T (p.Arg347*) | Nonsense | Rare | Loss of function; associated with CILD51 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; abolishes translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent DEUP1 protein, impairing deuterosome assembly and centriole amplification.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Multiciliogenesis (deuterosome pathway)
• Centriole duplication and amplification
Protein Summary
DEUP1 is a 688-amino-acid protein localized to the deuterosome, a structure that templates centriole amplification in multiciliated cells. It contains coiled-coil domains and interacts with CEP152 and PLK4 to promote procentriole formation. DEUP1 is essential for generating the hundreds of centrioles required for motile cilia assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEUP1 Knockout HEK293 Cell Line | EDJ-KQ13143 | Human | 159989 | Details Get a Quote |
| DEUP1 Knockout HeLa Cell Line | EDJ-KQ58807 | Human | 159989 | Details Get a Quote |
| DEUP1 Knockout A-549 Cell Line | EDJ-KQ67291 | Human | 159989 | Details Get a Quote |
| DEUP1 Knockout HCT 116 Cell Line | EDJ-KQ75691 | Human | 159989 | Details Get a Quote |
