PRKCD: Protein Kinase C Delta
A key regulator of apoptosis, cell growth, and immune response
Gene Information Card
| Symbol | PRKCD |
|---|---|
| Full Name | protein kinase C delta |
| Gene Type | protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 5580 ncbi.nlm.nih.gov/gene/5580 |
| Ensembl ID | ENSG00000163932 |
| UniProt ID | Q05655 |
| OMIM ID | 176977 |
| HGNC ID | 9399 |
| Aliases | PKCD, nPKC-delta, MGC49908 |
Description
PRKCD (protein kinase C delta) is a member of the protein kinase C (PKC) family of serine/threonine kinases. It plays a critical role in regulating cell proliferation, differentiation, apoptosis, and immune responses. PRKCD is involved in signal transduction pathways downstream of growth factors, cytokines, and stress stimuli. Dysregulation of PRKCD is implicated in various cancers, autoimmune disorders, and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | Loss-of-function mutations impair apoptosis of lymphocytes, leading to lymphoproliferation and autoimmunity. | ClinVar, OMIM |
| Breast cancer | Altered PRKCD expression and activity modulate cell survival and migration; overexpression linked to poor prognosis. | COSMIC, NCBI |
| Systemic lupus erythematosus (SLE) | PRKCD deficiency disrupts B-cell tolerance and promotes autoantibody production. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Brain | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| Jurkat | 18.5 | T-cell leukemia cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1342C>T (p.Arg448Trp) | Missense | Rare | Loss of kinase activity; associated with ALPS |
| c.1915G>A (p.Glu639Lys) | Missense | Rare | Impaired apoptosis; linked to SLE |
| c.1A>G (p.Met1Val) | Missense | Very rare | Start codon loss; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg448Trp) reduce kinase activity, impairing apoptosis and promoting autoimmunity.
Gain of Function (GOF)
Not well documented; some cancer-associated variants may increase kinase activity, but evidence is limited.
Dominant Negative (DN)
Certain mutations (e.g., p.Glu639Lys) may interfere with wild-type PRKCD function, acting in a dominant-negative manner.
View complete mutation data:
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • apoptotic process |
| • positive regulation of cell death | • intracellular signal transduction |
| • protein kinase C activity |
Pathways
• Apoptosis signaling pathway
• VEGF signaling pathway
• T cell receptor signaling pathway
• Fc epsilon RI signaling pathway
• Sphingolipid signaling pathway
Protein Summary
Protein kinase C delta (PKC delta) is a 676-amino acid serine/threonine kinase with regulatory and catalytic domains. It is activated by diacylglycerol and calcium, and phosphorylates substrates involved in apoptosis, cell cycle control, and immune regulation. PKC delta is a key mediator of DNA damage-induced apoptosis and is implicated in tumor suppression and autoimmunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKCD Knockout HEK293 Cell Line | EDJ-KQ2534 | Human | 5580 | Details Get a Quote |
| PRKCD Knockout A-549 Cell Line | EDJ-KQ23163 | Human | 5580 | Details Get a Quote |
| PRKCD Knockout HCT 116 Cell Line | EDJ-KQ23164 | Human | 5580 | Details Get a Quote |
| PRKCD Knockout HeLa Cell Line | EDJ-KQ21804 | Human | 5580 | Details Get a Quote |
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