LIMCH1: A Key Regulator of Actin Cytoskeleton and Cell Migration
Comprehensive genomic and functional analysis of LIM and calponin homology domains 1
Gene Information Card
| Symbol | LIMCH1 |
|---|---|
| Full Name | LIM and calponin homology domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p13 |
| NCBI Gene ID | 22998 ncbi.nlm.nih.gov/gene/22998 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9UPU0 |
| OMIM ID | 617750 |
| HGNC ID | 29191 |
| Aliases | LIMCH1A, LIMCH1B, dJ620E11.2 |
Description
LIMCH1 encodes a protein containing LIM domains and a calponin homology (CH) domain, which are involved in actin cytoskeleton organization and cell migration. The protein localizes to focal adhesions and stress fibers, regulating actomyosin contractility and cell motility. LIMCH1 is implicated in cancer progression and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations affect cell migration and invasion | COSMIC, ClinVar |
| Neurodevelopmental disorders | Rare variants may disrupt actin dynamics in neurons | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Kidney | 7.8 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 8.5 | Lung cancer cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| HEK293 | 12.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of function |
| c.567delA | Frameshift | 0.01% | p.Lys189fs; truncation |
| c.890G>A | Nonsense | 0.005% | p.Trp297*; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of actin-binding and regulatory functions.
Gain of Function (GOF)
Not reported; no activating mutations identified.
Dominant Negative (DN)
Missense variants may interfere with wild-type protein function in actin dynamics.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • cytoskeleton (GO:0005856) | • lamellipodium (GO:0030027) |
| • cell junction (GO:0030054) | • cell differentiation (GO:0030154) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The LIMCH1 protein (UniProt Q9UPU0) contains two N-terminal LIM domains and a C-terminal calponin homology domain. It localizes to focal adhesions and stress fibers, where it regulates actin polymerization and actomyosin contractility. The protein modulates cell migration and adhesion, and its dysregulation is associated with cancer metastasis and neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIMCH1 Knockout HEK293 Cell Line | EDJ-KQ2478 | Human | 22998 | Details Get a Quote |
| LIMCH1 Knockout A-549 Cell Line | EDJ-KQ23049 | Human | 22998 | Details Get a Quote |
| LIMCH1 Knockout HCT 116 Cell Line | EDJ-KQ23050 | Human | 22998 | Details Get a Quote |
| LIMCH1 Knockout HeLa Cell Line | EDJ-KQ23051 | Human | 22998 | Details Get a Quote |
