LIMD1: A Key Scaffold Protein in Cell Adhesion and Tumor Suppression
Comprehensive genomic and functional analysis of the LIM domain-containing protein 1 gene
Gene Information Card
| Symbol | LIMD1 |
|---|---|
| Full Name | LIM domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 89941 ncbi.nlm.nih.gov/gene/89941 |
| Ensembl ID | ENSG00000144713 |
| UniProt ID | Q9UGP4 |
| OMIM ID | 607543 |
| HGNC ID | 18712 |
| Aliases | LIM, LIMD1A, RIL, PPP1R100 |
Description
LIMD1 (LIM domain containing 1) encodes a scaffold protein that localizes to cell-cell adhesions and regulates actin dynamics. It functions as a tumor suppressor by modulating the Hippo signaling pathway and interacting with the E3 ubiquitin ligase complex. LIMD1 is frequently deleted or silenced in various cancers, contributing to tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Loss of LIMD1 expression via promoter methylation or deletion leads to increased YAP/TAZ activity and cell proliferation. | NCBI Gene, COSMIC |
| Breast cancer | LIMD1 downregulation correlates with poor prognosis and enhanced invasive capacity through altered adherens junctions. | ClinVar, OMIM |
| Hepatocellular carcinoma | LIMD1 deletion promotes epithelial-mesenchymal transition and metastasis via Hippo pathway dysregulation. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 15.1 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 9.8 | Reduced expression compared to normal lung |
| MCF7 (breast cancer) | 6.2 | Low expression; associated with invasive phenotype |
| HepG2 (liver cancer) | 11.4 | Moderate expression; loss correlates with metastasis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <1% | Loss of start codon; predicted loss of function |
| c.325C>T (p.Arg109*) | nonsense | <1% | Premature truncation; loss of function |
| c.742_743del (p.Gln248fs) | frameshift | <1% | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, start-loss) lead to loss of LIMD1 protein function, impairing tumor suppression.
Gain of Function (GOF)
No gain-of-function mutations have been documented in LIMD1.
Dominant Negative (DN)
No dominant-negative mutations have been reported for LIMD1.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • actin cytoskeleton organization |
| • Hippo signaling | • protein ubiquitination |
| • negative regulation of cell proliferation |
Pathways
• Hippo signaling pathway
• Adherens junction
• Actin cytoskeleton regulation
Protein Summary
LIMD1 is a 676-amino-acid scaffold protein containing LIM domains that mediate protein-protein interactions. It localizes to adherens junctions and interacts with components of the Hippo pathway (e.g., LATS1/2) to promote YAP/TAZ phosphorylation and cytoplasmic retention. Loss of LIMD1 disrupts junctional integrity and activates oncogenic transcriptional programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIMD1 Knockout HEK293 Cell Line | EDJ-KQ1360 | Human | 8994 | Details Get a Quote |
| LIMD1 Knockout A-549 Cell Line | EDJ-KQ20845 | Human | 8994 | Details Get a Quote |
| LIMD1 Knockout HCT 116 Cell Line | EDJ-KQ20846 | Human | 8994 | Details Get a Quote |
| LIMD1 Knockout HeLa Cell Line | EDJ-KQ20847 | Human | 8994 | Details Get a Quote |
