CALD1: Caldesmon 1 – A Key Regulator of Actin and Myosin Interaction
Comprehensive gene card for CALD1, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | CALD1 |
|---|---|
| Full Name | caldesmon 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 800 ncbi.nlm.nih.gov/gene/800 |
| Ensembl ID | ENSG00000122786 |
| UniProt ID | Q05682 |
| OMIM ID | 114213 |
| HGNC ID | 1441 |
| Aliases | H-CALD, L-CALD, CDM, HCAD, LCAD |
Description
CALD1 encodes caldesmon 1, an actin- and myosin-binding protein that regulates smooth muscle and non-muscle cell contraction. It exists as high-molecular-weight (h-caldesmon) and low-molecular-weight (l-caldesmon) isoforms via alternative splicing. The protein inhibits actomyosin ATPase activity in a calcium/calmodulin-dependent manner, playing a critical role in cytoskeletal dynamics, cell motility, and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered CALD1 expression and splicing contribute to cytoskeletal remodeling, invasion, and metastasis. | COSMIC; PMID: 25691885 |
| Smooth muscle tumors | Dysregulation of caldesmon isoforms is observed in leiomyomas and leiomyosarcomas. | UniProt; PMID: 10488074 |
| Cardiovascular disease | CALD1 variants may affect vascular smooth muscle contractility. | ClinVar; PMID: 23505220 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle (e.g., aorta, uterus, bladder) | High (e.g., aorta ~150 nTPM) | High |
| Heart | Moderate (~30 nTPM) | Medium |
| Brain | Low (~5 nTPM) | Low |
| Liver | Very low (~1 nTPM) | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | ~200 nTPM | Primary cells; high h-caldesmon expression |
| HeLa | ~15 nTPM | Cervical cancer; l-caldesmon predominant |
| MCF7 | ~10 nTPM | Breast cancer; low expression |
| HepG2 | ~2 nTPM | Hepatocellular carcinoma; very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.1567C>T (p.Arg523Trp) | Missense | <0.01% | Unknown; ClinVar uncertain significance |
| c.789_790insA | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein are predicted to cause loss of actin-binding and regulatory function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the actin-binding domain may act in a dominant-negative manner by disrupting filament regulation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Smooth muscle contraction (Reactome: R-HSA-445355)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Caldesmon 1 is a multifunctional actin-binding protein that stabilizes actin filaments and inhibits myosin ATPase activity. It is essential for maintaining contractile tone in smooth muscle and modulates cell migration and adhesion in non-muscle cells. Alternative splicing generates tissue-specific isoforms: h-caldesmon (smooth muscle) and l-caldesmon (non-muscle). Post-translational phosphorylation by kinases such as ERK and CaMKII regulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALD1 Knockout HEK293 Cell Line | EDJ-KQ1980 | Human | 800 | Details Get a Quote |
| CALD1 Knockout A-549 Cell Line | EDJ-KQ21954 | Human | 800 | Details Get a Quote |
| CALD1 Knockout HCT 116 Cell Line | EDJ-KQ21955 | Human | 800 | Details Get a Quote |
| CALD1 Knockout HeLa Cell Line | EDJ-KQ21956 | Human | 800 | Details Get a Quote |
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