CAMTA1 (calmodulin binding transcription activator 1)

2010-09-01 Kai-Oliver Henrich Affiliation

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

Identity

HGNC

CAMTA1

LOCATION

1p36.31

LOCUSID

23261

ALIAS

CANPMR

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000171735	ENST00000303635	Q9Y6Y1
ENSG00000171735	ENST00000461311	H0YJV1
ENSG00000171735	ENST00000467404	G3V297
ENSG00000171735	ENST00000473578	Q9Y6Y1
ENSG00000171735	ENST00000476864	A0A0C4DGL0
ENSG00000171735	ENST00000482934	H0YJG5
ENSG00000171735	ENST00000486138	H0YJY7
ENSG00000171735	ENST00000490905	H0YJR7
ENSG00000171735	ENST00000495233	H0YJK7
ENSG00000171735	ENST00000557126	Q9Y6Y1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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)