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.

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 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
Displaying Records 1 To 4 Of 4 Records
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