PRKCH: Protein Kinase C Eta
Atypical PKC family member involved in cell signaling, differentiation, and cancer
Gene Information Card
| Symbol | PRKCH |
|---|---|
| Full Name | Protein Kinase C Eta |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.1 |
| NCBI Gene ID | 5584 ncbi.nlm.nih.gov/gene/5584 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | P24723 |
| OMIM ID | 176982 |
| HGNC ID | 9404 |
| Aliases | PKC-L, PKCL, nPKC-eta |
Description
PRKCH encodes protein kinase C eta (PKC-η), a member of the novel (nPKC) subfamily of serine/threonine protein kinases. PKC-η is calcium-independent but requires diacylglycerol (DAG) for activation. It plays roles in cell differentiation, proliferation, apoptosis, and immune responses. The gene is located on chromosome 14q23.1 and is expressed in various tissues, notably in epithelial cells and hematopoietic lineages.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | PRKCH overexpression promotes cell proliferation and invasion via MAPK/ERK pathway activation | PMID: 25605247 |
| Breast cancer | Altered PRKCH expression correlates with poor prognosis; PKC-η modulates estrogen receptor signaling | PMID: 21804532 |
| Type 2 diabetes | PRKCH variants associated with insulin resistance; PKC-η impairs insulin signaling through IRS-1 phosphorylation | PMID: 19584355 |
| Psoriasis | PRKCH upregulation in psoriatic skin; PKC-η enhances keratinocyte proliferation and cytokine production | PMID: 17377519 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Spleen | 6.1 | Low |
| Breast | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 10.2 | High expression |
| MCF7 (breast adenocarcinoma) | 7.8 | Moderate expression |
| HaCaT (keratinocyte) | 15.1 | Very high expression |
| K562 (leukemia) | 3.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Reduced kinase activity in vitro |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Altered substrate specificity |
| c.1573_1575del (p.Glu525del) | In-frame deletion | <0.01% | Impaired membrane translocation |
Mutation functional classification
Loss of Function (LOF)
p.Arg339Trp reduces catalytic activity; p.Glu525del disrupts C2-like domain and membrane binding.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in PRKCH.
Dominant Negative (DN)
p.Gly416Arg may act as dominant negative by competing with wild-type PKC-η for DAG binding.
View complete mutation data:
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (KEGG:04010)
• VEGF signaling pathway (KEGG:04370)
• Fc epsilon RI signaling pathway (KEGG:04664)
• ErbB signaling pathway (KEGG:04012)
Protein Summary
Protein kinase C eta (PKC-η) is a 683-amino-acid serine/threonine kinase with a regulatory N-terminal C2-like domain and a C-terminal catalytic domain. It is activated by DAG and phorbol esters but not by calcium. PKC-η phosphorylates substrates involved in cell cycle control, apoptosis, and cytoskeletal organization. It is highly expressed in epithelial tissues and plays a role in skin differentiation and immune cell signaling. Dysregulation of PRKCH is implicated in several cancers and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKCH Knockout HEK293 Cell Line | EDJ-KQ5537 | Human | 5583 | Details Get a Quote |
| PRKCH Knockout A-549 Cell Line | EDJ-KQ28787 | Human | 5583 | Details Get a Quote |
| PRKCH Knockout HCT 116 Cell Line | EDJ-KQ28788 | Human | 5583 | Details Get a Quote |
| PRKCH Knockout HeLa Cell Line | EDJ-KQ28789 | Human | 5583 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records