CAMTA1 Gene: Calmodulin-Binding Transcription Activator 1
Key regulator of neuronal development and tumor suppression
Gene Information Card
| Symbol | CAMTA1 |
|---|---|
| Full Name | Calmodulin-Binding Transcription Activator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31-p36.23 |
| NCBI Gene ID | 23261 ncbi.nlm.nih.gov/gene/23261 |
| Ensembl ID | ENSG00000171735 |
| UniProt ID | Q9Y6Y1 |
| OMIM ID | 611501 |
| HGNC ID | 23261 |
| Aliases | CAMTA1, KIAA0833, MGC138290 |
Description
CAMTA1 encodes a transcription factor that binds calmodulin in a calcium-dependent manner. It regulates gene expression involved in neuronal development, synaptic plasticity, and tumor suppression. The protein contains a CG-1 DNA-binding domain, ankyrin repeats, and IQ calmodulin-binding motifs. CAMTA1 is implicated in cerebellar ataxia, intellectual disability, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebellar ataxia, nonprogressive, with intellectual disability | Loss-of-function mutations in CAMTA1 disrupt calcium-dependent transcription, impairing cerebellar development | OMIM #611501; ClinVar |
| Supratentorial ependymoma | CAMTA1 fusions (e.g., YAP1-CAMTA1) drive oncogenic transcriptional programs | COSMIC; PMID: 26928227 |
| Breast cancer | CAMTA1 hypermethylation and reduced expression correlate with poor prognosis | NCBI Gene; PMID: 23431147 |
| Colorectal cancer | CAMTA1 downregulation promotes metastasis via EMT activation | COSMIC; PMID: 25652263 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | High |
| Brain (cerebral cortex) | 8.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.0 | Not detected |
| Testis | 4.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.3 | High expression |
| HEK293 (embryonic kidney) | 6.7 | Medium expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HCT116 (colorectal cancer) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with cerebellar ataxia |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; intellectual disability |
| YAP1-CAMTA1 fusion | Gene fusion | Recurrent in ependymoma | Gain of function; oncogenic transcription |
| c.789G>A (p.Trp263*) | Nonsense | Rare | Loss of function; tumor suppression impaired |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CAMTA1 lead to truncated protein lacking DNA-binding or calmodulin-binding domains, impairing transcriptional activation of target genes involved in neuronal development and tumor suppression.
Gain of Function (GOF)
YAP1-CAMTA1 fusions create a chimeric transcription factor with constitutive activity, driving expression of proliferative genes in ependymoma.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CAMTA1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcium signaling pathway (Reactome: R-HSA-4086398)
• Transcriptional regulation by CAMTA1 (PMID: 23431147)
Protein Summary
CAMTA1 is a 1673-amino acid transcription factor that mediates calcium-dependent gene expression. It contains an N-terminal CG-1 DNA-binding domain, two ankyrin repeats, and three IQ motifs that bind calmodulin. Upon calcium influx, calmodulin binds CAMTA1, relieving autoinhibition and allowing nuclear translocation and target gene activation. CAMTA1 regulates genes involved in neuronal differentiation, synaptic function, and cell cycle control. Loss of CAMTA1 function contributes to neurodevelopmental disorders and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMTA1 Knockout HEK293 Cell Line | EDJ-KQ2193 | Human | 23261 | Details Get a Quote |
| CAMTA1 Knockout HCT 116 Cell Line | EDJ-KQ21117 | Human | 23261 | Details Get a Quote |
| CAMTA1 Knockout A-549 Cell Line | EDJ-KQ22423 | Human | 23261 | Details Get a Quote |
| CAMTA1 Knockout HeLa Cell Line | EDJ-KQ22424 | Human | 23261 | Details Get a Quote |
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