CAPZA1: F-Actin Capping Protein Subunit Alpha 1
Key regulator of actin filament dynamics and cell motility
Gene Information Card
| Symbol | CAPZA1 |
|---|---|
| Full Name | capping actin protein of muscle Z-line subunit alpha 1 |
| Gene Type | protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 829 ncbi.nlm.nih.gov/gene/829 |
| Ensembl ID | ENSG00000116489 |
| UniProt ID | P52907 |
| OMIM ID | 601580 |
| HGNC ID | 1489 |
| Aliases | CAPPA1, CAZ1, CAPZ, CAPPA, MGC104539 |
Description
CAPZA1 encodes the alpha-1 subunit of the F-actin capping protein, which binds to the barbed ends of actin filaments, preventing further polymerization and depolymerization. This regulation is critical for cytoskeletal organization, cell motility, and muscle Z-line integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Disruption of actin filament capping in cardiac muscle | PMID: 23561845 |
| Cancer (various) | Altered cell migration and invasion via actin dynamics | PMID: 25691885 |
| Nephrotic syndrome | Podocyte cytoskeleton dysregulation | PMID: 28844315 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Brain | 22.1 | Medium |
| Liver | 15.3 | Medium |
| Lung | 12.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.5 | Cervical cancer cell line |
| HEK293 | 28.1 | Embryonic kidney cells |
| A549 | 25.4 | Lung carcinoma cells |
| MCF7 | 20.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125His) | Missense | 0.01% | Altered actin binding affinity |
| c.520C>T (p.Arg174Trp) | Missense | 0.005% | Reduced capping activity |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing actin capping activity (e.g., p.Arg174Trp) lead to uncontrolled actin polymerization.
Gain of Function (GOF)
Not reported for CAPZA1.
Dominant Negative (DN)
p.Arg125His may interfere with wild-type subunit function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • actin filament capping (GO:0051015) | • actin binding (GO:0003779) |
| • actin cytoskeleton organization (GO:0030036) | • actin filament (GO:0005884) |
| • cytoskeleton (GO:0005856) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• Tight junction (KEGG: hsa04530)
Protein Summary
CAPZA1 is a 32.9 kDa protein that forms a heterodimer with CAPZB to cap the barbed ends of actin filaments. It is ubiquitously expressed with highest levels in muscle tissues. The protein contains a conserved actin-binding domain and is essential for maintaining actin filament length and dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPZA1 Knockout HEK293 Cell Line | EDJ-KQ2170 | Human | 829 | Details Get a Quote |
| CAPZA1 Knockout A-549 Cell Line | EDJ-KQ23742 | Human | 829 | Details Get a Quote |
| CAPZA1 Knockout HCT 116 Cell Line | EDJ-KQ23744 | Human | 829 | Details Get a Quote |
| CAPZA1 Knockout HeLa Cell Line | EDJ-KQ23745 | Human | 829 | Details Get a Quote |
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