LPXN Gene - Leupaxin
LPXN (Leupaxin) is a protein-coding gene involved in cell adhesion and signaling, with implications in cancer and immune disorders.
Gene Information Card
| Symbol | LPXN |
|---|---|
| Full Name | Leupaxin |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 9404 ncbi.nlm.nih.gov/gene/9404 |
| Ensembl ID | ENSG00000110031 |
| UniProt ID | O60711 |
| OMIM ID | 605390 |
| HGNC ID | 6698 |
| Aliases | LDPL, LDP, LPXN-001 |
Description
LPXN (leupaxin) encodes a member of the paxillin family of focal adhesion-associated proteins. The protein localizes to focal adhesions and the nucleus, and functions as an adaptor molecule in integrin signaling, cytoskeletal organization, and transcriptional regulation. LPXN is expressed in hematopoietic cells and various tissues, and its dysregulation is linked to cancer progression, metastasis, and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | LPXN overexpression promotes cell migration and invasion via focal adhesion kinase (FAK) signaling | COSMIC, NCBI |
| Rheumatoid arthritis | LPXN is upregulated in synovial fibroblasts and contributes to inflammation | NCBI, UniProt |
| Systemic lupus erythematosus | LPXN polymorphisms associated with disease susceptibility | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Lung | 6.3 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 8.7 | Moderate expression |
| A549 (lung) | 6.2 | Low expression |
| MCF7 (breast) | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Trp) | Missense | <0.01% | Unknown functional effect |
| c.763G>A (p.Glu255Lys) | Missense | <0.01% | Unknown functional effect |
| c.1003_1004insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1003_1004insA) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • focal adhesion (GO:0005925) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • cell adhesion (GO:0007155) |
| • cell junction (GO:0030054) | • protein binding (GO:0005515) |
Pathways
• Focal adhesion (KEGG: hsa04510)
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
Leupaxin is a 386-amino acid protein (UniProt O60711) containing four LIM domains and an N-terminal LD motif. It localizes to focal adhesions and the nucleus, interacting with proteins such as FAK, PYK2, and paxillin. LPXN modulates cell adhesion, migration, and gene expression, and is implicated in cancer metastasis and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LPXN Knockout HEK293 Cell Line | EDJ-KQ6579 | Human | 9404 | Details Get a Quote |
| LPXN Knockout A-549 Cell Line | EDJ-KQ30793 | Human | 9404 | Details Get a Quote |
| LPXN Knockout HCT 116 Cell Line | EDJ-KQ30794 | Human | 9404 | Details Get a Quote |
| LPXN Knockout HeLa Cell Line | EDJ-KQ30795 | Human | 9404 | Details Get a Quote |
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