PBK (PDZ Binding Kinase)
A mitotic kinase involved in cell cycle regulation and tumorigenesis
Gene Information Card
| Symbol | PBK |
|---|---|
| Full Name | PDZ binding kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 55872 ncbi.nlm.nih.gov/gene/55872 |
| Ensembl ID | ENSG00000168078 |
| UniProt ID | Q96KB5 |
| OMIM ID | 611870 |
| HGNC ID | 18282 |
| Aliases | TOP kinase, SPK, Nori-3, FLJ14385 |
Description
PBK (PDZ binding kinase) is a serine/threonine protein kinase that plays a critical role in mitotic progression. It is predominantly expressed in testis and various cancers, where it promotes cell proliferation and tumor growth. PBK phosphorylates and activates the MAP kinase pathway and interacts with PDZ domain-containing proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation and invasion | COSMIC, ClinVar |
| Colorectal cancer | Upregulation associated with poor prognosis | COSMIC |
| Lung cancer | Increased expression linked to tumor growth | COSMIC |
| Glioblastoma | High expression correlates with malignancy | COSMIC |
| Prostate cancer | Overexpression drives androgen-independent growth | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 6.2 | Medium |
| Lymph node | 4.8 | Medium |
| Brain | 1.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| A549 | 18.7 | Lung cancer cell line |
| MCF7 | 22.4 | Breast cancer cell line |
| HCT116 | 15.3 | Colorectal cancer cell line |
| K562 | 8.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | p.Met1Val; potential loss of start codon |
| c.487C>T | missense | <0.1% | p.Arg163Trp; unknown significance |
| c.626A>G | missense | <0.1% | p.Asn209Ser; unknown significance |
| c.832G>A | missense | <0.1% | p.Glu278Lys; unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PBK.
Gain of Function (GOF)
Overexpression and amplification in multiple cancers suggest gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway
• Cell cycle - mitosis
• p53 signaling pathway (indirect)
Protein Summary
PBK is a 322-amino acid serine/threonine kinase with a molecular weight of approximately 36 kDa. It contains a catalytic kinase domain and a C-terminal PDZ-binding motif. PBK is activated during mitosis and phosphorylates substrates such as MAPK/ERK kinase (MEK) and p53, influencing cell cycle progression and apoptosis. Its expression is tightly regulated in normal tissues but frequently upregulated in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PBK Knockout HEK293 Cell Line | EDJ-KQ12239 | Human | 55872 | Details Get a Quote |
| PBK Knockout A-549 Cell Line | EDJ-KQ41005 | Human | 55872 | Details Get a Quote |
| PBK Knockout HCT 116 Cell Line | EDJ-KQ41006 | Human | 55872 | Details Get a Quote |
| PBK Knockout HeLa Cell Line | EDJ-KQ39772 | Human | 55872 | Details Get a Quote |
| PBK Knockout U2OS Cell Line | EDJ-KZ381 | Human | 55872 | Details Get a Quote |
