LIMK1: LIM Domain Kinase 1
A key regulator of actin cytoskeleton dynamics, implicated in Williams syndrome and cancer metastasis.
Gene Information Card
| Symbol | LIMK1 |
|---|---|
| Full Name | LIM domain kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 3984 ncbi.nlm.nih.gov/gene/3984 |
| Ensembl ID | ENSG00000106683 |
| UniProt ID | P53667 |
| OMIM ID | 601329 |
| HGNC ID | 6613 |
| Aliases | LIMK, LIMK-1, MGC126106, MGC126108 |
Description
LIMK1 encodes a serine/threonine kinase that phosphorylates and inactivates cofilin, thereby regulating actin filament dynamics. It is involved in cytoskeletal reorganization, cell motility, and neuronal development. Hemizygous deletion of LIMK1 at 7q11.23 is associated with Williams syndrome, and altered expression contributes to cancer invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams syndrome | Hemizygous deletion of LIMK1 (along with other genes at 7q11.23) leads to impaired actin dynamics and neuronal connectivity. | OMIM #194050; NCBI Gene |
| Breast cancer | LIMK1 overexpression promotes cofilin phosphorylation, enhancing cell migration and invasion. | PubMed; COSMIC |
| Prostate cancer | Increased LIMK1 activity correlates with metastatic potential and poor prognosis. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Liver | 3.4 | Low |
| Kidney | 5.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 6.5 | Lung cancer cell line |
| HEK293 | 9.3 | 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% | Likely loss of function; reported in ClinVar |
| c.632C>T (p.Thr211Ile) | missense | <0.01% | Unknown significance; ClinVar |
| c.1024G>A (p.Glu342Lys) | missense | <0.01% | Unknown significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Met1?) are predicted to disrupt kinase activity or protein stability.
Gain of Function (GOF)
Not well documented; overexpression in cancer is considered a gain-of-function mechanism.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• RAC1/PAK1/LIMK1/cofilin pathway
Protein Summary
LIMK1 is a 647-amino-acid protein containing two N-terminal LIM domains, a PDZ domain, and a C-terminal serine/threonine kinase domain. It phosphorylates cofilin at Ser3, inactivating its actin-depolymerizing activity, thereby stabilizing actin filaments. LIMK1 activity is regulated by Rho GTPases (Rho, Rac, Cdc42) via PAK and ROCK kinases. The protein is critical for neuronal spine morphogenesis and cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIMK1 Knockout HEK293 Cell Line | EDJ-KQ5123 | Human | 3984 | Details Get a Quote |
| LIMK1 Knockout A-549 Cell Line | EDJ-KQ28071 | Human | 3984 | Details Get a Quote |
| LIMK1 Knockout HCT 116 Cell Line | EDJ-KQ28072 | Human | 3984 | Details Get a Quote |
| LIMK1 Knockout HeLa Cell Line | EDJ-KQ28073 | Human | 3984 | Details Get a Quote |
