CAMSAP3
Calmodulin Regulated Spectrin Associated Protein 3
Gene Information Card
| Symbol | CAMSAP3 |
|---|---|
| Full Name | calmodulin regulated spectrin associated protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 57662 ncbi.nlm.nih.gov/gene/57662 |
| Ensembl ID | ENSG00000104872 |
| UniProt ID | Q9P1Y5 |
| OMIM ID | 614204 |
| HGNC ID | 29138 |
| Aliases | KIAA1543, PPP1R80, NEZHA |
Description
CAMSAP3 encodes a protein that belongs to the calmodulin-regulated spectrin-associated protein family. It specifically binds to the minus ends of non-centrosomal microtubules, regulating their stability and organization. The protein is involved in cell polarity, epithelial morphogenesis, and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered CAMSAP3 expression may affect microtubule dynamics and cell polarity, contributing to tumor progression. | COSMIC: mutations and expression changes observed in breast cancer samples. |
| Colorectal cancer | Loss of CAMSAP3 function disrupts epithelial polarity and promotes invasive growth. | ClinVar: reported variants in colorectal cancer cases. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 10.1 | Medium |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| A549 (lung cancer) | 9.2 | Moderate expression |
| HCT116 (colorectal cancer) | 14.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | 0.01% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of microtubule minus-end binding.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule minus-end binding | • calmodulin binding |
| • microtubule cytoskeleton organization | • cell polarity |
| • epithelial cell differentiation |
Pathways
• Microtubule organization
• Cell polarity regulation
Protein Summary
CAMSAP3 is a 1,492-amino acid protein that specifically localizes to the minus ends of non-centrosomal microtubules. It contains a C-terminal CKK domain essential for microtubule binding and an N-terminal calmodulin-binding domain. The protein stabilizes microtubule minus ends and is crucial for maintaining cell polarity and tissue architecture.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMSAP3 Knockout HEK293 Cell Line | EDJ-KQ12719 | Human | 57662 | Details Get a Quote |
| CAMSAP3 Knockout A-549 Cell Line | EDJ-KQ41807 | Human | 57662 | Details Get a Quote |
| CAMSAP3 Knockout HCT 116 Cell Line | EDJ-KQ41808 | Human | 57662 | Details Get a Quote |
| CAMSAP3 Knockout HeLa Cell Line | EDJ-KQ56894 | Human | 57662 | Details Get a Quote |
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