NUAK1: A Key Regulator of Cell Adhesion, Motility, and Metabolism
Comprehensive gene card for NUAK1 (NUAK family kinase 1) including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | NUAK1 |
|---|---|
| Full Name | NUAK family kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 9891 ncbi.nlm.nih.gov/gene/9891 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | O60285 |
| OMIM ID | 609588 |
| HGNC ID | 29558 |
| Aliases | ARK5, KIAA0537, NUAK1 |
Description
NUAK1 (NUAK family kinase 1), also known as ARK5, is a serine/threonine protein kinase belonging to the AMPK-related kinase family. It plays critical roles in cell adhesion, migration, invasion, and metabolic regulation. NUAK1 is involved in the regulation of the actin cytoskeleton, cell polarity, and energy homeostasis. It is frequently overexpressed in various cancers and has been implicated in tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | NUAK1 overexpression promotes cell migration, invasion, and metastasis via regulation of myosin phosphatase and actin dynamics. | COSMIC, PubMed |
| Colorectal cancer | NUAK1 is upregulated and associated with poor prognosis; promotes epithelial-mesenchymal transition (EMT). | PubMed, COSMIC |
| Breast cancer | NUAK1 expression correlates with aggressive subtypes and metastasis; regulates cell motility. | PubMed, COSMIC |
| Melanoma | NUAK1 contributes to invasion and resistance to anoikis. | PubMed, COSMIC |
| Hepatocellular carcinoma | NUAK1 overexpression linked to tumor growth and metastasis. | PubMed, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 10.2 | Medium |
| Kidney | 9.4 | Low |
| Colon | 15.8 | Medium |
| Breast | 11.3 | Medium |
| Skin | 14.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.2 | Cervical cancer cell line |
| MCF7 | 22.5 | Breast cancer cell line |
| A549 | 16.7 | Lung cancer cell line |
| HCT116 | 25.1 | Colorectal cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% | Unknown; located in kinase domain |
| c.1342G>A (p.Glu448Lys) | Missense | 0.01% | Unknown; located in C-terminal region |
| c.1573_1574insA (p.Thr525AsnfsTer2) | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of kinase activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in NUAK1.
Dominant Negative (DN)
No dominant-negative mutations described for NUAK1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• AMPK signaling pathway
• Regulation of actin cytoskeleton
• Signaling by Rho GTPases
• Cell adhesion and migration
Protein Summary
NUAK1 is a 660-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal regulatory region. It phosphorylates substrates involved in cytoskeletal dynamics, such as myosin phosphatase targeting subunit 1 (MYPT1), leading to increased actomyosin contractility and cell migration. NUAK1 also regulates cellular energy balance by modulating AMPK signaling. Its overexpression in multiple cancers correlates with metastatic potential and poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUAK1 Knockout HEK293 Cell Line | EDJ-KQ2259 | Human | 9891 | Details Get a Quote |
| NUAK1 Knockout A-549 Cell Line | EDJ-KQ22579 | Human | 9891 | Details Get a Quote |
| NUAK1 Knockout HCT 116 Cell Line | EDJ-KQ22580 | Human | 9891 | Details Get a Quote |
| NUAK1 Knockout HeLa Cell Line | EDJ-KQ22581 | Human | 9891 | Details Get a Quote |
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