PRKD1: Protein Kinase D1
A serine/threonine kinase involved in cell signaling, cancer, and cardiac function
Gene Information Card
| Symbol | PRKD1 |
|---|---|
| Full Name | Protein Kinase D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 5587 ncbi.nlm.nih.gov/gene/5587 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q15139 |
| OMIM ID | 605435 |
| HGNC ID | 9407 |
| Aliases | PKD1, PKC-MU, PRKCM |
Description
PRKD1 (Protein Kinase D1) is a serine/threonine kinase belonging to the protein kinase D family. It is involved in signal transduction pathways regulating cell proliferation, differentiation, apoptosis, and vesicle trafficking. PRKD1 is activated by diacylglycerol and protein kinase C (PKC) and plays roles in cardiac hypertrophy, immune response, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac hypertrophy | PRKD1 activation via PKC signaling promotes hypertrophic gene expression | PMID: 15616532 |
| Breast cancer | PRKD1 overexpression correlates with poor prognosis and metastasis | PMID: 20628086 |
| Pancreatic cancer | PRKD1 regulates cell invasion and gemcitabine resistance | PMID: 21947068 |
| Colorectal cancer | PRKD1 mutations and altered expression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Pancreas | 15.8 | Medium |
| Spleen | 9.7 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| MCF7 | 22.3 | Breast cancer cell line |
| PANC-1 | 25.1 | Pancreatic cancer cell line |
| HCT116 | 14.2 | Colorectal cancer cell line |
| HEK293 | 10.8 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | 0.5% | Altered kinase activity |
| c.789_790insC | Frameshift | 0.1% | Loss of function |
| c.1567C>T (p.Arg523Trp) | Missense | 0.3% | Reduced catalytic activity |
| c.2101A>G (p.Asn701Asp) | Missense | 0.2% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or reduced kinase activity.
Gain of Function (GOF)
Missense mutations in the kinase domain that enhance catalytic activity (e.g., p.Glu412Lys).
Dominant Negative (DN)
Mutations that produce a kinase-dead protein interfering with wild-type PRKD1 signaling.
View complete mutation data:
Gene Ontology (GO)
Pathways
• KEGG: hsa04012 - ErbB signaling pathway
• KEGG: hsa04020 - Calcium signaling pathway
• KEGG: hsa04150 - mTOR signaling pathway
• Reactome: R-HSA-416476 - G alpha (q) signalling events
• Reactome: R-HSA-5218920 - DAG and IP3 signaling
Protein Summary
Protein kinase D1 (PRKD1) is a 912-amino acid serine/threonine kinase with a catalytic domain, a pleckstrin homology (PH) domain, and cysteine-rich zinc finger motifs. It is activated by diacylglycerol and PKC, and localizes to the Golgi, plasma membrane, and nucleus. PRKD1 regulates cell survival, migration, and cardiac gene expression. Mutations and overexpression are implicated in several cancers and cardiac hypertrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKD1 Knockout HEK293 Cell Line | EDJ-KQ1311 | Human | 5587 | Details Get a Quote |
| PRKD1 Knockout A-549 Cell Line | EDJ-KQ20733 | Human | 5587 | Details Get a Quote |
| PRKD1 Knockout HeLa Cell Line | EDJ-KQ54212 | Human | 5587 | Details Get a Quote |
| PRKD1 Knockout HCT 116 Cell Line | EDJ-KQ71177 | Human | 5587 | Details Get a Quote |
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