CETN1 (Centrin-1)
Calcium-binding centrosomal protein involved in microtubule organization and cell division
Gene Information Card
| Symbol | CETN1 |
|---|---|
| Full Name | Centrin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 1068 ncbi.nlm.nih.gov/gene/1068 |
| Ensembl ID | ENSG00000101457 |
| UniProt ID | Q12798 |
| OMIM ID | 603187 |
| HGNC ID | 1865 |
| Aliases | CALT, CEN1, centrin-1 |
Description
CETN1 encodes centrin-1, a member of the centrin family of calcium-binding proteins. Centrin-1 is localized to the centrosome and plays a critical role in centrosome duplication, microtubule organization, and cell cycle progression. It is also involved in the structure and function of cilia and flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defective ciliary assembly due to CETN1 mutations | ClinVar |
| Cancer (various types) | Centrosome amplification and genomic instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 8.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Heart | 4.3 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K-562 | 9.8 | Leukemia cell line |
| A549 | 7.2 | Lung cancer cell line |
| HepG2 | 2.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32Trp) | Missense | Rare | Altered calcium binding |
| c.215G>A (p.Arg72His) | Missense | Rare | Reduced centrosomal localization |
| c.340_341del (p.Leu114fs) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein and impaired centrosome function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations that disrupt calcium binding and centrosome localization, potentially interfering with wild-type centrin-1.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • centrosome |
| • microtubule organizing center | • cell division |
| • cilium assembly | • protein binding |
Pathways
• Centrosome duplication
• Ciliary assembly
• Cell cycle
Protein Summary
Centrin-1 is a 172-amino acid calcium-binding protein (20 kDa) that localizes to the centrosome and ciliary basal body. It contains four EF-hand domains that bind calcium ions, regulating its conformation and interactions. Centrin-1 is essential for centrosome duplication and microtubule nucleation, and its dysfunction is linked to ciliopathies and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CETN1 Knockout HEK293 Cell Line | EDJ-KQ4255 | Human | 1068 | Details Get a Quote |
| CETN1 Knockout HeLa Cell Line | EDJ-KQ52876 | Human | 1068 | Details Get a Quote |
| CETN1 Knockout A-549 Cell Line | EDJ-KQ61346 | Human | 1068 | Details Get a Quote |
| CETN1 Knockout HCT 116 Cell Line | EDJ-KQ69840 | Human | 1068 | Details Get a Quote |
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