CAMTA1 (calmodulin binding transcription activator 1)
2010-09-01 Kai-Oliver Henrich AffiliationDivision of Tumor Genetics B030, German Cancer Research Center, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany
DNA/RNA
Genomic organization of CAMTA1. Arrows illustrate genomic distance. Exons are represented by vertical blue lines or bars.
Description
The CAMTA1 gene (Henrich and Westermann, 2008) comprises 23 exons (all coding) spanning 984.38 kb of genomic DNA.
Transcription
8442 bp mRNA. Start codon at 208 bp. Stop codon at 5227 bp.
Proteins
Schematic representation of the CAMTA1 protein. Protein domains are indicated by boxes. NLS, nuclear localization signal.
Description
1673 amino acids; the proteins primary structure contains a nuclear localization signal, two DNA-binding domains (CG-1 and TIG), calmodulin binding motifs (IQ motifs) and ankyrin domains that may mediate protein-protein interactions.
Expression
Although expression of CAMTA1 is found in various organs, highest levels are seen in neuronal tissues (Nagase et al., 1998). In the brain, CAMTA1 levels are highest in the temporal cortex, entorhinal cortex and in the cerebellum (Huentelman et al., 2007).
Localisation
Nucleus.
Function
Largely unknown. CAMTA1 has been shown to act as a transcription activator in a reporter expression system (Bouché et al., 2002). Further data on the functional role are scarce. The homolog CAMTA2 is a co-activator of the transcription factor Nkx2-5. This function is inhibited by binding of class II histone deacetylases (Song et al., 2006).
Homology
Members of the CAMTA family are conserved in various eukaryotes including ciliates, plants, nematodes, insects, birds and mammals (Finkler et al., 2007). In human, two homologous CAMTAs are found, CAMTA1 and CAMTA2.
Implicated in
Entity name
Neuroblastoma
Note
The 1p36 smallest region of overlapping deletion in neuroblastomas spans only 261 kb and pinpoints the CAMTA1 gene (Henrich et al., 2006). In the absence of somatic mutations (Henrich et al., 2007), low CAMTA1 mRNA expression is significantly associated with markers of unfavorable tumor biology and poor neuroblastoma outcome. In multivariate survival analysis, this prognostic value is independent of established risk markers, including 1p deletion (Henrich et al., 2006).
Entity name
Glioma
Note
CAMTA1 is homozygously deleted in a subset of gliomas (Ichimura et al., 2008) and is the only gene mapping to the smallest region of overlapping heterozygous deletion in this entity (Barbashina et al., 2005).
Entity name
Colon cancer
Note
In colorectal cancer, loss of a 2 Mb region encompassing CAMTA1 had the strongest impact on survival among all copy number alterations identified by genome-wide copy number analysis (Kim et al., 2006). As in neuroblastoma, low expression of CAMTA1 mRNA is an independent predictor of poor outcome in colorectal cancer (Kim et al., 2006).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15709179 | 2005 | Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene. | Barbashina V et al |
| 11925432 | 2002 | A novel family of calmodulin-binding transcription activators in multicellular organisms. | Bouché N et al |
| 17689537 | 2007 | CAMTAs: calmodulin-binding transcription activators from plants to human. | Finkler A et al |
| 17222547 | 2007 | Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. | Henrich KO et al |
| 17470457 | 2007 | Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. | Huentelman MJ et al |
| 17934521 | 2008 | 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas. | Ichimura K et al |
| 17087931 | 2006 | Recurrent genomic alterations with impact on survival in colorectal cancer identified by genome-wide array comparative genomic hybridization. | Kim MY et al |
| 10048485 | 1998 | Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. | Nagase T et al |
| 16678093 | 2006 | The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases. | Song K et al |
Other Information
Locus ID:
NCBI: 23261
MIM: 611501
HGNC: 18806
Ensembl: ENSG00000171735
Variants:
dbSNP: 23261
ClinVar: 23261
TCGA: ENSG00000171735
COSMIC: CAMTA1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38044714 | 2024 | CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. | 0 |
| 38044714 | 2024 | CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. | 0 |
| 35949142 | 2022 | The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system. | 0 |
| 35949142 | 2022 | The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system. | 0 |
| 33131045 | 2021 | Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. | 1 |
| 33316386 | 2021 | CAMTA1, a novel antitumor gene, regulates proliferation and the cell cycle in glioma by inhibiting AKT phosphorylation. | 6 |
| 33677721 | 2021 | Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. | 1 |
| 33913810 | 2021 | TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex. | 22 |
| 33131045 | 2021 | Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. | 1 |
| 33316386 | 2021 | CAMTA1, a novel antitumor gene, regulates proliferation and the cell cycle in glioma by inhibiting AKT phosphorylation. | 6 |
| 33677721 | 2021 | Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. | 1 |
| 33913810 | 2021 | TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex. | 22 |
| 32157189 | 2020 | De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. | 1 |
| 32157189 | 2020 | De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. | 1 |
| 30357366 | 2019 | TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease. | 29 |
Citation
Kai-Oliver Henrich
CAMTA1 (calmodulin binding transcription activator 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-09-01
Online version: http://atlasgeneticsoncology.org/gene/908/camta1-(calmodulin-binding-transcription-activator-1)
