CAMTA1 (calmodulin binding transcription activator 1)

2010-09-01   Kai-Oliver Henrich 

Division of Tumor Genetics B030, German Cancer Research Center, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany

Identity

HGNC
LOCATION
1p36.31
LOCUSID
ALIAS
CANPMR
FUSION GENES

DNA/RNA

Atlas Image
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

Atlas Image
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).

Bibliography

Pubmed IDLast YearTitleAuthors
157091792005Allelic 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
119254322002A novel family of calmodulin-binding transcription activators in multicellular organisms.Bouché N et al
176895372007CAMTAs: calmodulin-binding transcription activators from plants to human.Finkler A et al
172225472007Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma.Henrich KO et al
174704572007Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.Huentelman MJ et al
1793452120081p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas.Ichimura K et al
170879312006Recurrent genomic alterations with impact on survival in colorectal cancer identified by genome-wide array comparative genomic hybridization.Kim MY et al
100484851998Prediction 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
166780932006The 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

Gene IDTranscript IDUniprot
ENSG00000171735ENST00000303635Q9Y6Y1
ENSG00000171735ENST00000461311H0YJV1
ENSG00000171735ENST00000467404G3V297
ENSG00000171735ENST00000473578Q9Y6Y1
ENSG00000171735ENST00000476864A0A0C4DGL0
ENSG00000171735ENST00000482934H0YJG5
ENSG00000171735ENST00000486138H0YJY7
ENSG00000171735ENST00000490905H0YJR7
ENSG00000171735ENST00000495233H0YJK7
ENSG00000171735ENST00000557126Q9Y6Y1

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
215848982011A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites.81
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218576462011CAMTA1 is a novel tumour suppressor regulated by miR-9/9* in glioblastoma stem cells.60
201251932010Common genetic variation and performance on standardized cognitive tests.39
213858982011CAMTA1, a 1p36 tumor suppressor candidate, inhibits growth and activates differentiation programs in neuroblastoma cells.32
193364752009Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.27
174704572007Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.21
174704572007Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.21
182100302008Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.18

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