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CAMTA1 (calmodulin binding transcription activator 1)

Written2010-09Kai-Oliver Henrich
Division of Tumor Genetics B030, German Cancer Research Center, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)KIAA0833
Other alias
HGNC (Hugo) CAMTA1
LocusID (NCBI) 23261
Atlas_Id 908
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 6785324 and ends at 6872047 bp from pter ( according to hg19-Feb_2009)  [Mapping CAMTA1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CAMTA1 (1p36.31) / CDK17 (12q23.1)CAMTA1 (1p36.31) / DHRS3 (1p36.21)CAMTA1 (1p36.31) / DHRS3 (1p36.22)
CAMTA1 (1p36.31) / ENTPD6 (20p11.21)CAMTA1 (1p36.31) / ERRFI1 (1p36.23)CAMTA1 (1p36.31) / LPAR3 (1p22.3)
CAMTA1 (1p36.31) / THAP3 (1p36.31)CAMTA1 (1p36.31) / UMODL1 (21q22.3)CAMTA1 (1p36.31) / USP39 (2p11.2)
CAMTA1 (1p36.31) / WWTR1 (3q25.1)CD1C (1q23.1) / CAMTA1 (1p36.31)FOXJ3 (1p34.2) / CAMTA1 (1p36.31)
GPATCH3 (1p36.11) / CAMTA1 (1p36.31)MTOR (1p36.22) / CAMTA1 (1p36.31)MYT1L (2p25.3) / CAMTA1 (1p36.31)
PER3 (1p36.23) / CAMTA1 (1p36.31)PGD (1p36.22) / CAMTA1 (1p36.31)RRP1B (21q22.3) / CAMTA1 (1p36.31)
SLC22A23 (6p25.2) / CAMTA1 (1p36.31)SLC25A45 (11q13.1) / CAMTA1 (1p36.31)SRSF11 (1p31.1) / CAMTA1 (1p36.31)
TBC1D8 (2q11.2) / CAMTA1 (1p36.31)TK1 (17q25.3) / CAMTA1 (1p36.31)UMODL1 (21q22.3) / CAMTA1 (1p36.31)
WWTR1 (3q25.1) / CAMTA1 (1p36.31)ZBTB37 (1q25.1) / CAMTA1 (1p36.31)

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

Note
  
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).
  

Bibliography

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
 
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
 
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
 
CAMTA1.
Henrich KO and Westermann F.
Encyclopedia of Cancer 2008; M. Schwab, Ed., Berlin, New York, Heidelberg, Springer. (REVIEW)
 
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
 
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
 
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
 
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
 
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
 

Citation

This paper should be referenced as such :
Henrich, KO
CAMTA1 (calmodulin binding transcription activator 1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):441-442.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CAMTA1ID908ch1p36.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Bone: Epithelioid hemangioendothelioma
Soft tissue tumors: an overview
Bone: Vascular Tumors


External links

Nomenclature
HGNC (Hugo)CAMTA1   18806
Cards
AtlasCAMTA1ID908ch1p36
Entrez_Gene (NCBI)CAMTA1  23261  calmodulin binding transcription activator 1
AliasesCANPMR
GeneCards (Weizmann)CAMTA1
Ensembl hg19 (Hinxton)ENSG00000171735 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171735 [Gene_View]  chr1:6785324-6872047 [Contig_View]  CAMTA1 [Vega]
ICGC DataPortalENSG00000171735
TCGA cBioPortalCAMTA1
AceView (NCBI)CAMTA1
Genatlas (Paris)CAMTA1
WikiGenes23261
SOURCE (Princeton)CAMTA1
Genetics Home Reference (NIH)CAMTA1
Genomic and cartography
GoldenPath hg38 (UCSC)CAMTA1  -     chr1:6785324-6872047 +  1p36.31-p36.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAMTA1  -     1p36.31-p36.23   [Description]    (hg19-Feb_2009)
EnsemblCAMTA1 - 1p36.31-p36.23 [CytoView hg19]  CAMTA1 - 1p36.31-p36.23 [CytoView hg38]
Mapping of homologs : NCBICAMTA1 [Mapview hg19]  CAMTA1 [Mapview hg38]
OMIM611501   614756   
Gene and transcription
Genbank (Entrez)AA757826 AB020640 AF086286 AF111804 AI278074
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAMTA1
Cluster EST : UnigeneHs.671020 [ NCBI ]
CGAP (NCI)Hs.671020
Alternative Splicing GalleryENSG00000171735
Gene ExpressionCAMTA1 [ NCBI-GEO ]   CAMTA1 [ EBI - ARRAY_EXPRESS ]   CAMTA1 [ SEEK ]   CAMTA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAMTA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23261
GTEX Portal (Tissue expression)CAMTA1
Human Protein AtlasENSG00000171735-CAMTA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6Y1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6Y1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6Y1
Splice isoforms : SwissVarQ9Y6Y1
PhosPhoSitePlusQ9Y6Y1
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    CG_1 (PS51437)    IQ (PS50096)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    CG-1_dom    Ig-like_fold    Ig_E-set    IPT    IQ_motif_EF-hand-BS    P-loop_NTPase   
Domain families : Pfam (Sanger)CG-1 (PF03859)    IQ (PF00612)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam03859    pfam00612    pfam01833   
Domain families : Smart (EMBL)CG-1 (SM01076)  
Conserved Domain (NCBI)CAMTA1
DMDM Disease mutations23261
Blocks (Seattle)CAMTA1
PDB (SRS)2CXK   
PDB (PDBSum)2CXK   
PDB (IMB)2CXK   
PDB (RSDB)2CXK   
Structural Biology KnowledgeBase2CXK   
SCOP (Structural Classification of Proteins)2CXK   
CATH (Classification of proteins structures)2CXK   
SuperfamilyQ9Y6Y1
Human Protein Atlas [tissue]ENSG00000171735-CAMTA1 [tissue]
Peptide AtlasQ9Y6Y1
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
BioGRIDCAMTA1
STRING (EMBL)CAMTA1
ZODIACCAMTA1
Ontologies - Pathways
QuickGOQ9Y6Y1
Ontology : AmiGOtranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  nucleolus  cytosol  transcription from RNA polymerase II promoter  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  neuromuscular process controlling balance  
Ontology : EGO-EBItranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  nucleolus  cytosol  transcription from RNA polymerase II promoter  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  neuromuscular process controlling balance  
NDEx NetworkCAMTA1
Atlas of Cancer Signalling NetworkCAMTA1
Wikipedia pathwaysCAMTA1
Orthology - Evolution
OrthoDB23261
GeneTree (enSembl)ENSG00000171735
Phylogenetic Trees/Animal Genes : TreeFamCAMTA1
HOVERGENQ9Y6Y1
HOGENOMQ9Y6Y1
Homologs : HomoloGeneCAMTA1
Homology/Alignments : Family Browser (UCSC)CAMTA1
Gene fusions - Rearrangements
Fusion : MitelmanCAMTA1/DHRS3 [1p36.31/1p36.22]  
Fusion : MitelmanCAMTA1/THAP3 [1p36.31/1p36.31]  [t(1;1)(p36;p36)]  
Fusion : MitelmanFOXJ3/CAMTA1 [1p34.2/1p36.31]  [t(1;1)(p34;p36)]  
Fusion : MitelmanGPATCH3/CAMTA1 [1p36.11/1p36.31]  [t(1;1)(p36;p36)]  
Fusion : MitelmanMTOR/CAMTA1 [1p36.22/1p36.31]  [t(1;1)(p36;p36)]  
Fusion : MitelmanPGD/CAMTA1 [1p36.22/1p36.31]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSLC22A23/CAMTA1 [6p25.2/1p36.31]  [t(1;6)(p36;p25)]  
Fusion : MitelmanWWTR1/CAMTA1 [3q25.1/1p36.31]  [t(1;3)(p36;q25)]  
Fusion: TCGA_MDACCCAMTA1 1p36.31 DHRS3 1p36.22 LUSC
Fusion: TCGA_MDACCCAMTA1 1p36.31 THAP3 1p36.31 BRCA
Fusion: TCGA_MDACCMTOR 1p36.22 CAMTA1 1p36.31 GBM
Fusion: TCGA_MDACCPGD 1p36.22 CAMTA1 1p36.31 GBM
Fusion: TCGA_MDACCSLC22A23 6p25.2 CAMTA1 1p36.31 PRAD
Tumor Fusion PortalCAMTA1
Fusion : TICdbWWTR1 [3q25.1]  -  CAMTA1 [1p36.31]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAMTA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAMTA1
dbVarCAMTA1
ClinVarCAMTA1
1000_GenomesCAMTA1 
Exome Variant ServerCAMTA1
ExAC (Exome Aggregation Consortium)ENSG00000171735
GNOMAD BrowserENSG00000171735
Genetic variants : HAPMAP23261
Genomic Variants (DGV)CAMTA1 [DGVbeta]
DECIPHERCAMTA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAMTA1 
Mutations
ICGC Data PortalCAMTA1 
TCGA Data PortalCAMTA1 
Broad Tumor PortalCAMTA1
OASIS PortalCAMTA1 [ Somatic mutations - Copy number]
Cancer Gene: CensusCAMTA1 
Somatic Mutations in Cancer : COSMICCAMTA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAMTA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CAMTA1
DgiDB (Drug Gene Interaction Database)CAMTA1
DoCM (Curated mutations)CAMTA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAMTA1 (select a term)
intoGenCAMTA1
NCG5 (London)CAMTA1
Cancer3DCAMTA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611501    614756   
Orphanet17144    21508   
DisGeNETCAMTA1
MedgenCAMTA1
Genetic Testing Registry CAMTA1
NextProtQ9Y6Y1 [Medical]
TSGene23261
GENETestsCAMTA1
Target ValidationCAMTA1
Huge Navigator CAMTA1 [HugePedia]
snp3D : Map Gene to Disease23261
BioCentury BCIQCAMTA1
ClinGenCAMTA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23261
Chemical/Pharm GKB GenePA38688
Clinical trialCAMTA1
Miscellaneous
canSAR (ICR)CAMTA1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAMTA1
EVEXCAMTA1
GoPubMedCAMTA1
iHOPCAMTA1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:45:49 CET 2017

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