NEK3: NIMA Related Kinase 3
A serine/threonine kinase involved in cell cycle regulation and ciliary function
Gene Information Card
| Symbol | NEK3 |
|---|---|
| Full Name | NIMA Related Kinase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 4752 ncbi.nlm.nih.gov/gene/4752 |
| Ensembl ID | ENSG00000136068 |
| UniProt ID | P51956 |
| OMIM ID | 604044 |
| HGNC ID | 7747 |
| Aliases | HSPK36, NIMA-related kinase 3 |
Description
NEK3 encodes a serine/threonine protein kinase that belongs to the NIMA (never in mitosis A) family of kinases. This protein is involved in cell cycle regulation, particularly in the G2/M phase transition, and plays a role in ciliogenesis and microtubule dynamics. NEK3 is also implicated in prolactin signaling and breast cancer cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NEK3 overexpression promotes cell migration and invasion via prolactin signaling pathway | PMID: 16982698 |
| Primary ciliary dyskinesia | NEK3 mutations impair ciliogenesis and ciliary function | PMID: 28289718 |
| Endometrial cancer | Altered NEK3 expression associated with tumor progression | PMID: 23593029 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Breast | 8.2 | Medium |
| Brain | 6.1 | Low |
| Lung | 5.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HeLa (cervical cancer) | 10.1 | Moderate expression |
| HEK293 (embryonic kidney) | 7.5 | Low expression |
| HepG2 (liver cancer) | 4.3 | Very low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | 0.002% | Potential loss of kinase activity |
| c.832_833del (p.Leu278fs) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in NEK3 are predicted to cause loss of kinase activity and impaired ciliogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NEK3.
Dominant Negative (DN)
No evidence for dominant-negative effects in NEK3.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Prolactin signaling pathway (Reactome: R-HSA-4086398)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Cilium assembly (Reactome: R-HSA-5620912)
Protein Summary
NEK3 is a 517-amino acid serine/threonine kinase with an N-terminal catalytic domain and a C-terminal regulatory region. It localizes to centrosomes and cilia, where it regulates microtubule organization and ciliary assembly. NEK3 is activated by prolactin signaling and phosphorylates downstream targets involved in cell migration and cytoskeletal remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK3 Knockout HEK293 Cell Line | EDJ-KQ5329 | Human | 4752 | Details Get a Quote |
| NEK3 Knockout HeLa Cell Line | EDJ-KQ27189 | Human | 4752 | Details Get a Quote |
| NEK3 Knockout A-549 Cell Line | EDJ-KQ28419 | Human | 4752 | Details Get a Quote |
| NEK3 Knockout HCT 116 Cell Line | EDJ-KQ28420 | Human | 4752 | Details Get a Quote |
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