CAMSAP1: Calmodulin Regulated Spectrin Associated Protein 1
A key regulator of microtubule minus-end dynamics and neuronal development
Gene Information Card
| Symbol | CAMSAP1 |
|---|---|
| Full Name | Calmodulin Regulated Spectrin Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 157922 ncbi.nlm.nih.gov/gene/157922 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q5T5Y3 |
| OMIM ID | 613774 |
| HGNC ID | 29511 |
| Aliases | CAMSAP1L1, FLJ37953, KIAA1478 |
Description
CAMSAP1 encodes a member of the calmodulin-regulated spectrin-associated protein family. The protein binds to and stabilizes microtubule minus ends, playing a critical role in microtubule organization, neuronal polarity, and cell migration. It is widely expressed in human tissues, with highest levels in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Disruption of microtubule minus-end stabilization leads to impaired neuronal migration and axon guidance | ClinVar |
| Intellectual disability | Loss-of-function variants associated with cognitive impairment | ClinVar |
| Autism spectrum disorder | Rare variants identified in ASD cohorts | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Heart | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal model |
| HeLa | 7.8 | Cervical cancer |
| HEK293 | 6.4 | Embryonic kidney |
| A549 | 5.1 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.2345G>A (p.Arg782His) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein and loss of microtubule-binding activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • calmodulin binding |
| • microtubule cytoskeleton organization | • negative regulation of microtubule depolymerization |
| • neuron projection development |
Pathways
• Microtubule minus-end stabilization
• Neuronal development and migration
Protein Summary
CAMSAP1 is a 1,482-amino acid protein containing calmodulin-binding and spectrin-binding domains. It localizes to microtubule minus ends and protects them from depolymerization, thereby regulating microtubule network architecture. The protein is essential for proper neuronal morphology and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMSAP1 Knockout HEK293 Cell Line | EDJ-KQ12718 | Human | 157922 | Details Get a Quote |
| CAMSAP1 Knockout HCT 116 Cell Line | EDJ-KQ40538 | Human | 157922 | Details Get a Quote |
| CAMSAP1 Knockout A-549 Cell Line | EDJ-KQ41804 | Human | 157922 | Details Get a Quote |
| CAMSAP1 Knockout HeLa Cell Line | EDJ-KQ41806 | Human | 157922 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
