PRKX: Protein Kinase X-Linked
A serine/threonine protein kinase involved in cell proliferation, differentiation, and cAMP signaling
Gene Information Card
| Symbol | PRKX |
|---|---|
| Full Name | Protein Kinase, X-Linked |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.13 |
| NCBI Gene ID | 5613 ncbi.nlm.nih.gov/gene/5613 |
| Ensembl ID | ENSG00000147224 |
| UniProt ID | P51817 |
| OMIM ID | 300083 |
| HGNC ID | 9411 |
| Aliases | PKX1, Pkare |
Description
PRKX encodes a serine/threonine protein kinase that belongs to the cAMP-dependent protein kinase (PKA) family. It is located on the X chromosome and is involved in regulating cell proliferation, differentiation, and migration. PRKX is activated by cAMP and plays a role in various signaling pathways, including those related to renal development and hematopoiesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polycystic Kidney Disease | PRKX may modulate cyst formation through cAMP signaling pathways | PMID: 12368202 |
| Acute Myeloid Leukemia | PRKX overexpression is associated with leukemogenesis | PMID: 15692071 |
| X-linked Intellectual Disability | PRKX mutations may contribute to cognitive impairment | PMID: 20691407 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.7 | Low |
| Heart | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| K562 | 9.8 | Moderate expression |
| HeLa | 7.5 | Low expression |
| MCF7 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200_201insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PRKX are predicted to result in truncated or non-functional protein, leading to loss of kinase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in PRKX.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PRKX.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • cAMP-dependent protein kinase activity |
| • ATP binding | • protein phosphorylation |
| • signal transduction | • cell proliferation |
Pathways
• cAMP signaling pathway
• PKA-mediated signaling
• Renal cell carcinoma pathway
Protein Summary
PRKX is a 358-amino acid serine/threonine protein kinase with a catalytic domain similar to PKA. It is activated by cAMP binding to regulatory subunits, leading to phosphorylation of downstream targets involved in cell cycle regulation and differentiation. The protein is predominantly expressed in kidney and brain tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKX Knockout HEK293 Cell Line | EDJ-KQ5540 | Human | 5613 | Details Get a Quote |
| PRKX Knockout HeLa Cell Line | EDJ-KQ27545 | Human | 5613 | Details Get a Quote |
| PRKX Knockout A-549 Cell Line | EDJ-KQ28798 | Human | 5613 | Details Get a Quote |
| PRKX Knockout HCT 116 Cell Line | EDJ-KQ28799 | Human | 5613 | Details Get a Quote |
| PRKX Knockout HAP1 Cell Line | EDC08049 | Human | 5613 | Details Get a Quote |
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