NEK5: NIMA Related Kinase 5
A serine/threonine-protein kinase involved in cell cycle regulation and ciliary function
Gene Information Card
| Symbol | NEK5 |
|---|---|
| Full Name | NIMA related kinase 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 341676 ncbi.nlm.nih.gov/gene/341676 |
| Ensembl ID | ENSG00000197168 |
| UniProt ID | Q6P3R8 |
| OMIM ID | 616665 |
| HGNC ID | 20211 |
| Aliases | FLJ34296, MGC138290 |
Description
NEK5 (NIMA related kinase 5) is a serine/threonine-protein kinase that belongs to the NEK family of cell cycle regulators. It plays a role in mitotic progression, ciliary function, and cellular response to DNA damage. The gene is located on chromosome 13q14.3 and encodes a protein of 708 amino acids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered NEK5 expression may contribute to tumorigenesis through dysregulation of cell cycle checkpoints. | PMID: 25609812 |
| Primary ciliary dyskinesia | NEK5 mutations impair ciliary motility and assembly. | PMID: 28886345 |
| Colorectal cancer | NEK5 overexpression associated with poor prognosis and increased proliferation. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.4 | Cervical cancer cell line |
| MCF7 | 7.1 | Breast cancer cell line |
| A549 | 6.8 | Lung cancer cell line |
| HEK293 | 5.5 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | 0.0004% (gnomAD) | Unknown functional impact |
| c.1573G>A (p.Glu525Lys) | Missense | 0.0002% (gnomAD) | Unknown functional impact |
| c.1885_1886del (p.Glu629fs) | Frameshift | <0.0001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu629fs) are predicted to cause premature truncation and loss of kinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NEK5.
Dominant Negative (DN)
No evidence for dominant-negative effects in NEK5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Cilium Assembly (Reactome: R-HSA-5617833)
Protein Summary
NEK5 is a serine/threonine-protein kinase with a conserved N-terminal catalytic domain. It localizes to the centrosome and ciliary base, regulating mitotic spindle formation and ciliogenesis. The protein interacts with NEK4 and NEK6, and its activity is modulated by phosphorylation. Altered expression is linked to several cancers and ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEK5 Knockout HEK293 Cell Line | EDJ-KQ7480 | Human | 341676 | Details Get a Quote |
| NEK5 Knockout HCT 116 Cell Line | EDJ-KQ34051 | Human | 341676 | Details Get a Quote |
| NEK5 Knockout HeLa Cell Line | EDJ-KQ59716 | Human | 341676 | Details Get a Quote |
| NEK5 Knockout A-549 Cell Line | EDJ-KQ68189 | Human | 341676 | Details Get a Quote |
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