PLS3 Gene - Plastin 3
Actin-binding protein involved in bone development and cellular motility
Gene Information Card
| Symbol | PLS3 |
|---|---|
| Full Name | Plastin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 5358 ncbi.nlm.nih.gov/gene/5358 |
| Ensembl ID | ENSG00000102024 |
| UniProt ID | P13797 |
| OMIM ID | 300131 |
| HGNC ID | 9091 |
| Aliases | T-plastin, PLS3, plastin 3 (T isoform) |
Description
PLS3 encodes plastin 3, an actin-binding protein that cross-links actin filaments into bundles. It is involved in cytoskeletal organization, cell motility, and bone mineralization. Mutations in PLS3 cause X-linked osteoporosis with bone fragility and fractures. The protein is widely expressed, with highest levels in bone, kidney, and lung.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked osteoporosis | Loss-of-function mutations in PLS3 impair actin bundling in osteoblasts, reducing bone matrix deposition and mineralization. | OMIM #300910; PMID: 23966204 |
| Osteogenesis imperfecta (non-collagenous form) | PLS3 mutations lead to bone fragility without collagen defects, via disrupted osteoblast function. | ClinVar; PMID: 23966204 |
| Bone fragility (general) | PLS3 deficiency reduces bone mineral density and increases fracture risk. | OMIM; PMID: 23966204 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | High |
| Kidney | 10.8 | High |
| Lung | 9.2 | Medium |
| Heart | 7.1 | Medium |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 11.8 | Lung carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| K562 | 3.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.73C>T (p.Arg25Ter) | Nonsense | Rare | Loss of function; premature stop codon |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Loss of function; impaired actin binding |
| c.1030C>T (p.Arg344Trp) | Missense | Rare | Loss of function; reduced protein stability |
| c.1462C>T (p.Arg488Ter) | Nonsense | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg25Ter, p.Gly248Arg) reduce or abolish actin-bundling activity, leading to X-linked osteoporosis.
Gain of Function (GOF)
No gain-of-function mutations reported in PLS3.
Dominant Negative (DN)
No dominant-negative mutations reported; PLS3 is X-linked and loss-of-function is recessive in females.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663222)
• Integrin signaling pathway (Reactome R-HSA-354192)
• Focal adhesion (KEGG hsa04510)
Protein Summary
Plastin 3 (PLS3) is a 630-amino acid actin-bundling protein containing two EF-hand calcium-binding domains and two actin-binding domains. It cross-links actin filaments into parallel bundles, stabilizing the cytoskeleton. PLS3 is essential for osteoblast function and bone mineralization. Mutations cause X-linked osteoporosis with early-onset fractures. The protein is also implicated in cell migration and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLS3 Knockout HEK293 Cell Line | EDJ-KQ3220 | Human | 5358 | Details Get a Quote |
| PLS3 Knockout A-549 Cell Line | EDJ-KQ24713 | Human | 5358 | Details Get a Quote |
| PLS3 Knockout HCT 116 Cell Line | EDJ-KQ24714 | Human | 5358 | Details Get a Quote |
| PLS3 Knockout HeLa Cell Line | EDJ-KQ24715 | Human | 5358 | Details Get a Quote |
