LIMA1 Gene (LIM Domain and Actin Binding 1)
A key regulator of actin cytoskeleton dynamics and intestinal cholesterol absorption
Gene Information Card
| Symbol | LIMA1 |
|---|---|
| Full Name | LIM domain and actin binding 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 55673 ncbi.nlm.nih.gov/gene/55673 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9UHB6 |
| OMIM ID | 608504 |
| HGNC ID | 24636 |
| Aliases | EPLIN, SREBP3, pp624, FLJ12443 |
Description
LIMA1 (LIM domain and actin binding 1) encodes a cytoskeletal protein that binds to actin filaments and regulates their dynamics. The protein contains an N-terminal LIM domain and a C-terminal actin-binding domain. LIMA1 is involved in cell adhesion, migration, and proliferation. It also plays a role in intestinal cholesterol absorption by interacting with NPC1L1 and myosin Vb. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial hypercholesterolemia (susceptibility) | LIMA1 variants impair cholesterol absorption by disrupting the NPC1L1-LIMA1-myosin Vb complex, reducing intestinal cholesterol uptake. | ClinVar, OMIM |
| Breast cancer | LIMA1 (EPLIN) loss leads to increased actin dynamics and cell motility, promoting invasion and metastasis. | COSMIC, NCBI |
| Prostate cancer | Reduced LIMA1 expression correlates with epithelial-mesenchymal transition and poor prognosis. | COSMIC, NCBI |
| Colorectal cancer | LIMA1 downregulation is associated with tumor progression and metastasis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 8.2 | Medium |
| Stomach | 6.1 | Low |
| Breast | 4.3 | Low |
| Prostate | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 15.0 | Intestinal epithelial cell line |
| MCF-7 | 5.2 | Breast cancer cell line |
| PC-3 | 3.8 | Prostate cancer cell line |
| HeLa | 4.5 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1367C>T (p.Thr456Met) | Missense | 0.01% | Reduced cholesterol absorption; associated with lower LDL-C levels |
| c.1129G>A (p.Gly377Ser) | Missense | 0.005% | Unknown functional effect |
| c.1654_1655insA (p.Thr552Asnfs*2) | Frameshift | <0.001% | Loss of function; potential impact on actin binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the actin-binding domain lead to loss of actin-binding and regulatory function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for LIMA1.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • LIM domain binding | • protein homodimerization activity |
| • actin cytoskeleton organization | • cell adhesion |
| • cell migration | • negative regulation of cell migration |
| • intestinal cholesterol absorption |
Pathways
• Actin cytoskeleton regulation
• NPC1L1-mediated cholesterol transport
• Epithelial cell signaling
Protein Summary
LIMA1 (EPLIN) is a 759-amino-acid protein that contains an N-terminal LIM domain and a C-terminal actin-binding domain. It localizes to actin stress fibers and cell-cell junctions. LIMA1 stabilizes actin filaments by cross-linking and bundling F-actin. In the intestine, it forms a complex with NPC1L1 and myosin Vb to facilitate cholesterol uptake. Loss of LIMA1 reduces cholesterol absorption and lowers plasma LDL-C levels. In cancer, LIMA1 acts as a tumor suppressor by inhibiting cell motility and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIMA1 Knockout HEK293 Cell Line | EDJ-KQ14074 | Human | 51474 | Details Get a Quote |
| LIMA1 Knockout A-549 Cell Line | EDJ-KQ43984 | Human | 51474 | Details Get a Quote |
| LIMA1 Knockout HeLa Cell Line | EDJ-KQ43985 | Human | 51474 | Details Get a Quote |
| LIMA1 Knockout HCT 116 Cell Line | EDJ-KQ26293 | Human | 51474 | Details Get a Quote |
