PLEKHN1
Pleckstrin Homology Domain Containing N1
Gene Information Card
| Symbol | PLEKHN1 |
|---|---|
| Full Name | Pleckstrin Homology Domain Containing N1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 84069 ncbi.nlm.nih.gov/gene/84069 |
| Ensembl ID | ENSG00000187583 |
| UniProt ID | Q9BZG9 |
| OMIM ID | 617124 |
| HGNC ID | 25038 |
| Aliases | FLJ10706, MGC13170 |
Description
PLEKHN1 is a protein-coding gene located on chromosome 1p36.33. It encodes a protein containing a pleckstrin homology (PH) domain, which is involved in intracellular signaling and membrane targeting. The specific function of PLEKHN1 is not fully characterized, but it may play a role in cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.8 | Low |
| Brain | 3.2 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Low expression |
| K562 | 1.8 | Low expression |
| HeLa | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • phospholipid binding (GO:0005543) | • cytoplasm (GO:0005737) |
Protein Summary
The PLEKHN1 protein (UniProt Q9BZG9) contains a pleckstrin homology (PH) domain, which typically mediates binding to phosphoinositides and proteins, suggesting involvement in membrane localization and signal transduction. The full biological role remains to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHN1 Knockout HEK293 Cell Line | EDJ-KQ9153 | Human | 84069 | Details Get a Quote |
| PLEKHN1 Knockout A-549 Cell Line | EDJ-KQ36892 | Human | 84069 | Details Get a Quote |
| PLEKHN1 Knockout HCT 116 Cell Line | EDJ-KQ36894 | Human | 84069 | Details Get a Quote |
| PLEKHN1 Knockout HeLa Cell Line | EDJ-KQ36895 | Human | 84069 | Details Get a Quote |
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