CEP89: Centrosomal Protein 89
A key regulator of ciliogenesis and mitochondrial function, implicated in ciliopathies and cancer.
Gene Information Card
| Symbol | CEP89 |
|---|---|
| Full Name | Centrosomal Protein 89 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 84902 ncbi.nlm.nih.gov/gene/84902 |
| Ensembl ID | ENSG00000105329 |
| UniProt ID | Q96ST3 |
| OMIM ID | 615470 |
| HGNC ID | 29137 |
| Aliases | CCDC123, FLJ32709 |
Description
CEP89 (Centrosomal Protein 89) encodes a centrosomal protein essential for ciliogenesis and mitochondrial function. It localizes to the centrosome and basal body, and is required for primary cilium assembly. CEP89 also interacts with mitochondrial complex I, influencing cellular energy metabolism. Mutations in CEP89 are associated with Joubert syndrome and related ciliopathies, and altered expression is observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss-of-function mutations disrupt ciliogenesis, leading to cerebellar and retinal defects. | OMIM #615470; PMID: 22939627 |
| Retinitis pigmentosa | CEP89 variants impair photoreceptor cilia, causing progressive vision loss. | ClinVar; PMID: 22939627 |
| Cancer (breast, lung) | Overexpression or amplification may promote centrosome amplification and aneuploidy. | COSMIC; PMID: 25631445 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.8 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 9.7 | Medium expression |
| A549 | 7.1 | Medium expression |
| MCF7 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57*) | Nonsense | <0.01% | Loss of function; associated with Joubert syndrome |
| c.1042G>A (p.Gly348Arg) | Missense | <0.01% | Impaired ciliogenesis; reported in retinitis pigmentosa |
| c.1876_1877insA | Frameshift | <0.01% | Truncation; loss of centrosomal localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, loss of centrosomal targeting, and defective ciliogenesis.
Gain of Function (GOF)
Not reported; no activating mutations known.
Dominant Negative (DN)
Possible for missense variants that retain partial function but disrupt protein complexes.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cilium assembly (GO:0060271) | • mitochondrion (GO:0005739) |
| • NADH dehydrogenase (ubiquinone) activity (GO:0008137) |
Pathways
• Ciliogenesis (REACT: R-HSA-5617833)
• Mitochondrial complex I assembly (REACT: R-HSA-6799198)
Protein Summary
CEP89 is a 789-amino acid centrosomal protein containing a coiled-coil domain. It localizes to the centrosome and basal body, where it facilitates ciliary vesicle docking and axoneme extension. Additionally, CEP89 interacts with NDUFS3 and other mitochondrial complex I subunits, supporting oxidative phosphorylation. Its dual role in cilia and mitochondria links cellular signaling and energy production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP89 Knockout HEK293 Cell Line | EDJ-KQ9481 | Human | 84902 | Details Get a Quote |
| CEP89 Knockout A-549 Cell Line | EDJ-KQ37442 | Human | 84902 | Details Get a Quote |
| CEP89 Knockout HCT 116 Cell Line | EDJ-KQ37444 | Human | 84902 | Details Get a Quote |
| CEP89 Knockout HeLa Cell Line | EDJ-KQ37445 | Human | 84902 | Details Get a Quote |
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