PDLIM1
PDZ and LIM domain protein 1
Gene Information Card
| Symbol | PDLIM1 |
|---|---|
| Full Name | PDZ and LIM domain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 9124 ncbi.nlm.nih.gov/gene/9124 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | O00151 |
| OMIM ID | 605905 |
| HGNC ID | 20666 |
| Aliases | CLP36, CLIM1, hCLIM1, FLJ12433 |
Description
PDLIM1 encodes a protein containing a PDZ domain and a LIM domain, which functions as an adapter protein involved in cytoskeletal organization, cell adhesion, and signal transduction. It interacts with alpha-actinin and other cytoskeletal components, playing a role in muscle development and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | PDLIM1 overexpression promotes cell migration and invasion via cytoskeletal remodeling | PMID: 25605248 |
| Colorectal cancer | Downregulation of PDLIM1 correlates with poor prognosis and metastasis | PMID: 23541953 |
| Breast cancer | PDLIM1 modulates actin dynamics and may influence tumor cell motility | PMID: 19029980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 48.2 | High |
| Skeletal muscle | 62.1 | High |
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.4 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HT-29 | 6.2 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.361C>T (p.Arg121Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.487G>A (p.Gly163Ser) | Missense | 0.005% (gnomAD) | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PDLIM1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PDLIM1.
Dominant Negative (DN)
No dominant-negative mutations reported in PDLIM1.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein homodimerization activity |
| • Z disc | • cytoskeleton |
| • cell adhesion |
Pathways
• Actin cytoskeleton regulation
• Focal adhesion
Protein Summary
PDLIM1 is a 329-amino acid protein with an N-terminal PDZ domain and a C-terminal LIM domain. It localizes to the Z-disc in muscle cells and to focal adhesions in non-muscle cells, where it links alpha-actinin to signaling complexes. The protein is involved in cytoskeletal dynamics, cell migration, and tumor suppression or promotion depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDLIM1 Knockout HEK293 Cell Line | EDJ-KQ6467 | Human | 9124 | Details Get a Quote |
| PDLIM1 Knockout HeLa Cell Line | EDJ-KQ29217 | Human | 9124 | Details Get a Quote |
| PDLIM1 Knockout A-549 Cell Line | EDJ-KQ30559 | Human | 9124 | Details Get a Quote |
| PDLIM1 Knockout HCT 116 Cell Line | EDJ-KQ30560 | Human | 9124 | Details Get a Quote |
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