PLEKHO1 Gene - Pleckstrin Homology Domain Containing O1
Comprehensive genomic and functional annotation of PLEKHO1, a regulator of cell signaling and cytoskeletal dynamics.
Gene Information Card
| Symbol | PLEKHO1 |
|---|---|
| Full Name | Pleckstrin homology domain containing O1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 51177 ncbi.nlm.nih.gov/gene/51177 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q53GL0 |
| OMIM ID | 608335 |
| HGNC ID | HGNC:17023 |
| Aliases | CKIP-1, CKIP1, JPIP, OK/SW-cl.16 |
Description
PLEKHO1 (pleckstrin homology domain containing O1), also known as CKIP-1, encodes a protein that contains a pleckstrin homology (PH) domain and a C-terminal region. It acts as a scaffold protein involved in the regulation of cell morphology, actin cytoskeleton organization, and signal transduction pathways, including phosphatidylinositol 3-kinase (PI3K) signaling. PLEKHO1 is implicated in cellular processes such as proliferation, differentiation, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PLEKHO1 modulates PI3K/AKT signaling and cytoskeletal dynamics; altered expression linked to tumor progression. | PubMed, COSMIC |
| Cardiovascular disease | Involved in vascular smooth muscle cell phenotype switching via actin remodeling. | PubMed |
| Neurodegenerative disorders | Potential role in neuronal cytoskeletal integrity and signaling. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 15.1 | Medium |
| Liver | 6.7 | Low |
| Kidney | 18.9 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.1 | High expression |
| HeLa | 14.5 | Medium expression |
| K562 | 9.8 | Low expression |
| A549 | 16.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional impact |
| c.682G>A (p.Glu228Lys) | Missense | <0.01% | Unknown functional impact |
| c.1003_1004insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1003_1004insA) likely result in truncated protein and loss of PH domain function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for PLEKHO1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway
• Regulation of actin cytoskeleton
• Signaling by Rho GTPases
Protein Summary
The PLEKHO1 protein (CKIP-1) is a 409-amino-acid scaffold containing an N-terminal PH domain that binds phosphoinositides and a C-terminal region that interacts with actin and signaling proteins. It localizes to the plasma membrane and cytoskeleton, regulating cell shape, migration, and survival. The protein is widely expressed, with highest levels in testis and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHO1 Knockout HEK293 Cell Line | EDJ-KQ10962 | Human | 51177 | Details Get a Quote |
| PLEKHO1 Knockout A-549 Cell Line | EDJ-KQ38771 | Human | 51177 | Details Get a Quote |
| PLEKHO1 Knockout HCT 116 Cell Line | EDJ-KQ38772 | Human | 51177 | Details Get a Quote |
| PLEKHO1 Knockout HeLa Cell Line | EDJ-KQ38773 | Human | 51177 | Details Get a Quote |
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