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CAMTA1 (calmodulin binding transcription activator 1)

Identity

Other namesKIAA0833
HGNC (Hugo) CAMTA1
LocusID (NCBI) 23261
Location 1p36.31
Location_base_pair Starts at 6845384 and ends at 6932107 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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.

Protein

 
  Schematic representation of the CAMTA1 protein. Protein domains are indicated by boxes. NLS, nuclear localization signal.
Description 1673 amino acids; the protein's 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 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 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 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).
  

External links

Nomenclature
HGNC (Hugo)CAMTA1   18806
Entrez_Gene (NCBI)CAMTA1  23261  calmodulin binding transcription activator 1
Cards
AtlasCAMTA1ID908ch1p36
GeneCards (Weizmann)CAMTA1
Ensembl (Hinxton)ENSG00000171735 [Gene_View]  chr1:6845384-6932107 [Contig_View]  CAMTA1 [Vega]
AceView (NCBI)CAMTA1
Genatlas (Paris)CAMTA1
euGene (Indiana)23261
SOURCE (Stanford)NM_001195563 NM_001242701 NM_015215
Genomic and cartography
GoldenPath (UCSC)CAMTA1  -  1p36.31   chr1:6845384-6932107 +  1p36.31-p36.23   [Description]    (hg19-Feb_2009)
EnsemblCAMTA1 - 1p36.31-p36.23 [CytoView]
Mapping of homologs : NCBICAMTA1 [Mapview]
OMIM611501   
Gene and transcription
Genbank (Entrez)AA757826 AB020640 AF086286 AF111804 AI278074
RefSeq transcript (SRS)NM_001195563 NM_001242701 NM_015215
RefSeq transcript (Entrez)NM_001195563 NM_001242701 NM_015215
RefSeq genomic (SRS)AC_000133 NC_000001 NT_021937 NW_001838523
RefSeq genomic (Entrez)AC_000133 NC_000001 NT_021937 NW_001838523
Consensus coding sequences : CCDS (NCBI)CAMTA1
Cluster EST : UnigeneHs.671020 [ SRS ] Hs.671020 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3443
Alternative Splicing GalleryENSG00000171735
Gene ExpressionCAMTA1 [ NCBI-GEO ]   CAMTA1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6Y1 (SRS) Q9Y6Y1 (Uniprot)
With graphics : InterProQ9Y6Y1
Splice isoforms : SwissVarQ9Y6Y1(Swissvar)
Domaine pattern : Prosite (SRS)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    CG_1 (PS51437)    IQ (PS50096)   
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    CG_1 (PS51437)    IQ (PS50096)   
Domains : Interpro (SRS)Ankyrin_rpt    Ankyrin_rpt-contain_dom    CG-1_dom    Ig-like_fold    Ig_E-set    IPT_TIG_rcpt    IQ_motif_EF-hand-BS   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    CG-1_dom    Ig-like_fold    Ig_E-set    IPT_TIG_rcpt    IQ_motif_EF-hand-BS   
Related proteins : CluSTrQ9Y6Y1
Domain families : Pfam (SRS)CG-1 (PF03859)    IQ (PF00612)    TIG (PF01833)   
Domain families : Pfam (Sanger)CG-1 (PF03859)    IQ (PF00612)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam03859    pfam00612    pfam01833   
Domain families : Smart (EMBL)ANK (SM00248)  CG-1 (SM01076)  IQ (SM00015)  
Blocks (Seattle)Q9Y6Y1
PDB (SRS)2CXK   
PDB (PDBSum)2CXK   
PDB (IMB)2CXK   
PDB (RSDB)2CXK   
Human Protein AtlasENSG00000171735
HPRD16681
IPIIPI00166031   IPI00915425   IPI00910134   IPI00874242   IPI01025787   IPI01026286   IPI01026427   IPI01025688   IPI01025965   IPI01026062   IPI01025648   IPI01025289   IPI01024925   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6Y1
IntAct (EBI)Q9Y6Y1
FunCoupENSG00000171735
REACTOMECAMTA1
BioGRIDCAMTA1
InParanoidQ9Y6Y1
Interologous Interaction database Q9Y6Y1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CAMTA1
SNP (GeneSNP Utah)CAMTA1
SNP : HGBaseCAMTA1
Genetic variants : HAPMAPCAMTA1
Cancer Gene: CensusCAMTA1 
Somatic Mutations in Cancer : COSMICCAMTA1 
CONAN: Copy Number AnalysisCAMTA1 
Mutations and Diseases : HGMDCAMTA1
OMIM611501   
GENETests611501   
Disease Genetic AssociationCAMTA1
Huge Navigator CAMTA1 [HugePedia]  CAMTA1 [HugeCancerGEM]
Genomic VariantsCAMTA1
snp3D : Map Gene to Disease23261
General knowledge
Homologs : HomoloGeneCAMTA1
Homology/Alignments : Family Browser (UCSC)CAMTA1
Phylogenetic Trees/Animal Genes : TreeFamCAMTA1
Chemical/Protein Interactions : CTD23261
Chemical/Pharm GKB GenePA38688
Clinical trialCAMTA1
Cancer Resource (Charite)ENSG00000171735
Ontology : AmiGODNA binding  nucleus  cytoplasm  regulation of transcription, DNA-dependent  
Ontology : EGO-EBIDNA binding  nucleus  cytoplasm  regulation of transcription, DNA-dependent  
Other databases
Probes
Probes : ImagenesCAMTA1 Related clones (RZPD - Berlin)
Litterature
PubMed23 Pubmed reference(s) in Entrez
PubGeneCAMTA1
iHOPCAMTA1

Bibliography

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, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
DNA Res. 1998 Dec 31;5(6):355-64.
PMID 10048485
 
A novel family of calmodulin-binding transcription activators in multicellular organisms.
Bouche N, Scharlat A, Snedden W, Bouchez D, Fromm H.
J Biol Chem. 2002 Jun 14;277(24):21851-61. Epub 2002 Mar 29.
PMID 11925432
 
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, Salazar P, Holland EC, Rosenblum MK, Ladanyi M.
Clin Cancer Res. 2005 Feb 1;11(3):1119-28.
PMID 15709179
 
Reduced expression of CAMTA1 correlates with adverse outcome in neuroblastoma patients.
Henrich KO, Fischer M, Mertens D, Benner A, Wiedemeyer R, Brors B, Oberthuer A, Berthold F, Wei JS, Khan J, Schwab M, Westermann F.
Clin Cancer Res. 2006 Jan 1;12(1):131-8.
PMID 16397034
 
Recurrent genomic alterations with impact on survival in colorectal cancer identified by genome-wide array comparative genomic hybridization.
Kim MY, Yim SH, Kwon MS, Kim TM, Shin SH, Kang HM, Lee C, Chung YJ.
Gastroenterology. 2006 Dec;131(6):1913-24. Epub 2006 Oct 15.
PMID 17087931
 
The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.
Song K, Backs J, McAnally J, Qi X, Gerard RD, Richardson JA, Hill JA, Bassel-Duby R, Olson EN.
Cell. 2006 May 5;125(3):453-66.
PMID 16678093
 
CAMTAs: calmodulin-binding transcription activators from plants to human.
Finkler A, Ashery-Padan R, Fromm H.
FEBS Lett. 2007 Aug 21;581(21):3893-8. Epub 2007 Aug 1. (REVIEW)
PMID 17689537
 
Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma.
Henrich KO, Claas A, Praml C, Benner A, Mollenhauer J, Poustka A, Schwab M, Westermann F.
Eur J Cancer. 2007 Feb;43(3):607-16. Epub 2007 Jan 11.
PMID 17222547
 
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
Huentelman MJ, Papassotiropoulos A, Craig DW, Hoerndli FJ, Pearson JV, Huynh KD, Corneveaux J, Hanggi J, Mondadori CR, Buchmann A, Reiman EM, Henke K, de Quervain DJ, Stephan DA.
Hum Mol Genet. 2007 Jun 15;16(12):1469-77. Epub 2007 Apr 30.
PMID 17470457
 
CAMTA1.
Henrich KO and Westermann F.
Encyclopedia of Cancer 2008; M. Schwab, Ed., Berlin, New York, Heidelberg, Springer. (REVIEW)
 
1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas.
Ichimura K, Vogazianou AP, Liu L, Pearson DM, Backlund LM, Plant K, Baird K, Langford CF, Gregory SG, Collins VP.
Oncogene. 2008 Mar 27;27(14):2097-108. Epub 2007 Oct 15.
PMID 17934521
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2010Kai-Oliver Henrich
Division of Tumor Genetics B030, German Cancer Research Center, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany

Citation

This paper should be referenced as such :
Henrich KO . CAMTA1 (calmodulin binding transcription activator 1). Atlas Genet Cytogenet Oncol Haematol. September 2010 .
URL : http://AtlasGeneticsOncology.org/Genes/CAMTA1ID908ch1p36.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/45021/1/09-2010-CAMTA1ID908ch1p36.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 28 14:58:28 CEST 2012

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