PLS1 (Plastin 1) Gene
Gene encoding an actin-bundling protein involved in cytoskeletal organization and linked to hearing loss and cancer
Gene Information Card
| Symbol | PLS1 |
|---|---|
| Full Name | Plastin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 5357 ncbi.nlm.nih.gov/gene/5357 |
| Ensembl ID | ENSG00000120756 |
| UniProt ID | Q14651 |
| OMIM ID | 602734 |
| HGNC ID | 9090 |
| Aliases | I-plastin, PLS1, plastin 1 (I isoform) |
Description
PLS1 encodes plastin 1, an actin-bundling protein that cross-links actin filaments into parallel bundles. It is primarily expressed in intestinal brush border microvilli and hair cell stereocilia, playing a critical role in maintaining cytoskeletal architecture and cell motility. Mutations in PLS1 are associated with autosomal recessive deafness and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive 76 (DFNB76) | Loss-of-function mutations in PLS1 disrupt actin bundling in hair cell stereocilia, leading to progressive hearing loss. | ClinVar; OMIM #602734 |
| Colorectal cancer | PLS1 overexpression may promote cell migration and invasion through enhanced actin dynamics. | COSMIC; NCBI Gene |
| Breast cancer | Altered PLS1 expression correlates with tumor progression and metastasis. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 78.5 | High |
| Colon | 45.2 | Medium |
| Kidney | 12.3 | Low |
| Lung | 5.6 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 62.4 | High expression |
| HCT116 (colorectal carcinoma) | 55.1 | High expression |
| MCF7 (breast adenocarcinoma) | 8.3 | Low expression |
| HEK293 (embryonic kidney) | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213*) | Nonsense | Rare | Loss of function; associated with DFNB76 |
| c.1048G>A (p.Gly350Ser) | Missense | Rare | Likely damaging; reported in hearing loss |
| c.1333G>A (p.Glu445Lys) | Missense | Unknown | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PLS1 cause loss of actin-bundling activity, leading to stereocilia degeneration and deafness.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer gain-of-function in cell motility.
Dominant Negative (DN)
No dominant-negative mutations reported for PLS1.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament bundle assembly |
| • cytoskeleton organization | • cell projection morphogenesis |
| • hearing |
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663213)
• Microvillus assembly (Reactome R-HSA-6805567)
Protein Summary
Plastin 1 (I-plastin) is a 68 kDa actin-bundling protein containing two EF-hand calcium-binding domains and two actin-binding domains. It is highly expressed in intestinal brush border and inner ear hair cells, where it organizes actin filaments into tight bundles essential for microvilli and stereocilia structure. Calcium binding reduces its actin-bundling activity, allowing dynamic remodeling. Mutations cause deafness, and dysregulation contributes to cancer cell invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLS1 Knockout HEK293 Cell Line | EDJ-KQ5490 | Human | 5357 | Details Get a Quote |
| PLS1 Knockout A-549 Cell Line | EDJ-KQ28717 | Human | 5357 | Details Get a Quote |
| PLS1 Knockout HCT 116 Cell Line | EDJ-KQ28718 | Human | 5357 | Details Get a Quote |
| PLS1 Knockout HeLa Cell Line | EDJ-KQ28719 | Human | 5357 | Details Get a Quote |
