LIMS1: LIM Zinc Finger Domain Containing 1
A key scaffold protein in integrin-mediated signaling and cell adhesion
Gene Information Card
| Symbol | LIMS1 |
|---|---|
| Full Name | LIM zinc finger domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.3 |
| NCBI Gene ID | 3987 ncbi.nlm.nih.gov/gene/3987 |
| Ensembl ID | ENSG00000169756 |
| UniProt ID | P48059 |
| OMIM ID | 602567 |
| HGNC ID | 6616 |
| Aliases | PINCH1, PINCH, LIMS, MGC126514 |
Description
LIMS1 encodes the protein PINCH1 (particularly interesting new cysteine-histidine rich protein 1), a LIM domain-containing scaffold protein that localizes to focal adhesions. It interacts with integrin-linked kinase (ILK) and parvin to form the IPP complex, which is critical for integrin-mediated cell adhesion, cytoskeletal organization, and cell survival signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome type 6 | Mutations in LIMS1 disrupt IPP complex assembly, impairing podocyte adhesion and glomerular basement membrane integrity. | PMID: 28165339; ClinVar |
| Hepatocellular carcinoma | LIMS1 overexpression promotes tumor cell migration and invasion via enhanced focal adhesion turnover. | PMID: 25636800; COSMIC |
| Breast cancer | LIMS1 upregulation correlates with poor prognosis and increased metastatic potential through ILK-mediated signaling. | PMID: 21746831; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Liver | 6.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| A549 | 11.7 | Lung adenocarcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.205C>T (p.Arg69Trp) | Missense | <0.01% | Disrupts LIM domain folding; associated with nephrotic syndrome |
| c.700G>A (p.Glu234Lys) | Missense | <0.01% | Alters ILK binding; reduced cell adhesion |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated PINCH1 protein, impairing IPP complex formation and focal adhesion signaling.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by enhancing cell migration.
Dominant Negative (DN)
Missense mutations in LIM domains that disrupt protein-protein interactions without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• ILK signaling (Reactome: R-HSA-446728)
Protein Summary
PINCH1 is a 5-LIM domain scaffold protein that forms a ternary complex with ILK and parvin (IPP complex). It localizes to focal adhesions and mediates integrin-dependent signals to the actin cytoskeleton, regulating cell adhesion, migration, and survival. PINCH1 also shuttles to the nucleus to modulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIMS1 Knockout HEK293 Cell Line | EDJ-KQ5125 | Human | 3987 | Details Get a Quote |
| LIMS1 Knockout A-549 Cell Line | EDJ-KQ28077 | Human | 3987 | Details Get a Quote |
| LIMS1 Knockout HCT 116 Cell Line | EDJ-KQ28078 | Human | 3987 | Details Get a Quote |
| LIMS1 Knockout HeLa Cell Line | EDJ-KQ28079 | Human | 3987 | Details Get a Quote |
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