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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
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CRTC1 (CREB regulated transcription coactivator 1)


Other namesKIAA0616
LocusID (NCBI) 23373
Location 19p13.11
Location_base_pair Starts at 18794425 and ends at 18893143 bp from pter ( according to hg19-Feb_2009)  [Mapping]


Description Spans about 94 kb and includes 14 to 16 exons
Transcription two RNA variants of 2505 and 2342 bp, respectively.


Note 634 amino acids; 67300 Da
Description Transcriptional coactivator for CREB1.
Expression Expressed in a restricted number of tissues including fetal brain and liver and adult heart, skeletal muscle, liver and salivary gland.
Localisation Nucleus.
Function Interacts through its N-terminal CREB-binding domain with the bZIP domain of CREB1; Binds to CREB1 as a homotetramer. Transcriptional coactivator for CREB1, which activates transcription through both consensus and variant cAMP response element (CRE) sites, leading to activation of CREB1 target genes. Does not appear to modulate CREB1 DNA-binding activity but enhances the interaction of CREB1 with TAF4/TAFII-130.

Implicated in

Entity Mucoepidermoid carcinoma (most common type of malignant salivary gland tumor; second most frequent lung tumor of bronchial gland origin); benign Warthin¹s tumor; clear cell hidradenoma of the skin (CCH; a.k.a. nodular hidradenomas or eccrine acrospiromas). all sharing a t(11; 19) (q21; p13)
Cytogenetics t(11;19)(q21;p13).
Fig1a (a) Partial G-banded and SKY karyotypes showing the t(11;19) in a mucoepidermoid carcinoma (MEC) case. (b) Dual-color FISH experiment of the MEC using BAC 697H10 (MAML2, red signal) and cosmid LLNLR 255A4 (CRTC1, green signal) as probes. Note the presence of the CRTC1-MAML2 fusion gene on the der(11) (fused red­green signals marked by an arrowhead).
Reprinted partially from Publication ³Exp Cell Res 292, Enlund F., Behboudi A., Andren Y., Oberg C., Lendahl U., Mark J., Stenman G., Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors, 21-28, Copyright (2004), with permission from Elsevier.²

Hybrid/Mutated Gene CRTC1-MAML2. Exon 1 of MECT1 fused to exons 2-5 of MAML2.
Abnormal Protein MECT1-MAML2; in the fusion protein the first 171 aa including the basic domain of MAML2 are replaced by 42 aa of MECT1; there are no sequence similarities in the N-terminal domains of MAML2 and MECT1; the fusion protein activates transcription of the Notch target gene HES1 independently of both Notch ligand and CSL.
Top: Nucleotide and deduced amino acid sequences of the CRTC1-MAML2 breakpoint junction.
Bottom: Schematic representation of the MAML2 protein and the CRTC1-MAML2 fusion protein. In the fusion protein the N-terminal Notch-binding domain of MAML2 is replaced by the CREB-binding domain of CRTC1.
Reprinted partially from publication above mentioned

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhabID5004

External links

HGNC (Hugo)CRTC1   16062
Entrez_Gene (NCBI)CRTC1  23373  CREB regulated transcription coactivator 1
GeneCards (Weizmann)CRTC1
Ensembl hg19 (Hinxton)ENSG00000105662 [Gene_View]  chr19:18794425-18893143 [Contig_View]  CRTC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000105662 [Gene_View]  chr19:18794425-18893143 [Contig_View]  CRTC1 [Vega]
ICGC DataPortalENSG00000105662
Genatlas (Paris)CRTC1
SOURCE (Princeton)CRTC1
Genomic and cartography
GoldenPath hg19 (UCSC)CRTC1  -     chr19:18794425-18893143 +  19p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CRTC1  -     19p13   [Description]    (hg38-Dec_2013)
EnsemblCRTC1 - 19p13 [CytoView hg19]  CRTC1 - 19p13 [CytoView hg38]
Mapping of homologs : NCBICRTC1 [Mapview hg19]  CRTC1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB014516 AK024089 AU118537 AY040323 AY186998
RefSeq transcript (Entrez)NM_001098482 NM_015321 NM_025021
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NT_011295 NW_001838484 NW_004929414
Consensus coding sequences : CCDS (NCBI)CRTC1
Cluster EST : UnigeneHs.371096 [ NCBI ]
CGAP (NCI)Hs.371096
Alternative Splicing : Fast-db (Paris)GSHG0014720
Alternative Splicing GalleryENSG00000105662
Gene ExpressionCRTC1 [ NCBI-GEO ]     CRTC1 [ SEEK ]   CRTC1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UUV9 (Uniprot)
NextProtQ6UUV9  [Medical]
With graphics : InterProQ6UUV9
Splice isoforms : SwissVarQ6UUV9 (Swissvar)
Domains : Interpro (EBI)TORC    TORC_C    TORC_M    TORC_N   
Related proteins : CluSTrQ6UUV9
Domain families : Pfam (Sanger)TORC_C (PF12886)    TORC_M (PF12885)    TORC_N (PF12884)   
Domain families : Pfam (NCBI)pfam12886    pfam12885    pfam12884   
DMDM Disease mutations23373
Blocks (Seattle)Q6UUV9
Human Protein AtlasENSG00000105662
Peptide AtlasQ6UUV9
IPIIPI00783099   IPI00412329   IPI00303383   
Protein Interaction databases
IntAct (EBI)Q6UUV9
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  nucleolus  cytoplasm  plasma membrane  transcription, DNA-templated  cAMP response element binding protein binding  viral process  positive regulation of CREB transcription factor activity  positive regulation of transcription from RNA polymerase II promoter  protein homotetramerization  
Ontology : EGO-EBIprotein binding  nucleus  nucleolus  cytoplasm  plasma membrane  transcription, DNA-templated  cAMP response element binding protein binding  viral process  positive regulation of CREB transcription factor activity  positive regulation of transcription from RNA polymerase II promoter  protein homotetramerization  
Pathways : KEGGHTLV-I infection   
Protein Interaction DatabaseCRTC1
DoCM (Curated mutations)CRTC1
Wikipedia pathwaysCRTC1
Gene fusion - rearrangements
Rearrangement : COSMICMAML2 [11q21]  -  CRTC1 [19p13.11]
Rearrangement : TICdbCRTC1 [19p13.11]  -  MAML2 [9p24.1]
Polymorphisms : SNP, variants
NCBI Variation ViewerCRTC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRTC1
Exome Variant ServerCRTC1
Genetic variants : HAPMAPCRTC1
Genomic Variants (DGV)CRTC1 [DGVbeta]
ICGC Data PortalENSG00000105662 
Cancer Gene: CensusCRTC1 
Somatic Mutations in Cancer : COSMICCRTC1 
CONAN: Copy Number AnalysisCRTC1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)19:18794425-18893143
Mutations and Diseases : HGMDCRTC1
NextProtQ6UUV9 [Medical]
Disease Genetic AssociationCRTC1
Huge Navigator CRTC1 [HugePedia]  CRTC1 [HugeCancerGEM]
snp3D : Map Gene to Disease23373
DGIdb (Drug Gene Interaction db)CRTC1
General knowledge
Homologs : HomoloGeneCRTC1
Homology/Alignments : Family Browser (UCSC)CRTC1
Phylogenetic Trees/Animal Genes : TreeFamCRTC1
Chemical/Protein Interactions : CTD23373
Chemical/Pharm GKB GenePA30730
Clinical trialCRTC1
Cancer Resource (Charite)ENSG00000105662
Other databases
PubMed60 Pubmed reference(s) in Entrez


TORCs: transducers of regulated CREB activity.
Conkright MD, Canettieri G, Screaton R, Guzman E, Miraglia L, Hogenesch JB, Montminy M
Molecular cell. 2003 ; 12 (2) : 413-423.
PMID 14536081
Identification of a family of cAMP response element-binding protein coactivators by genome-scale functional analysis in mammalian cells.
Iourgenko V, Zhang W, Mickanin C, Daly I, Jiang C, Hexham JM, Orth AP, Miraglia L, Meltzer J, Garza D, Chirn GW, McWhinnie E, Cohen D, Skelton J, Terry R, Yu Y, Bodian D, Buxton FP, Zhu J, Song C, Labow MA
Proceedings of the National Academy of Sciences of the United States of America. 2003 ; 100 (21) : 12147-12152.
PMID 14506290
t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway.
Tonon G, Modi S, Wu L, Kubo A, Coxon AB, Komiya T, O'Neil K, Stover K, El-Naggar A, Griffin JD, Kirsch IR, Kaye FJ
Nature genetics. 2003 ; 33 (2) : 208-213.
PMID 12539049
Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors.
Enlund F, Behboudi A, Andrˆ©n Y, Oberg C, Lendahl U, Mark J, Stenman G
Experimental cell research. 2004 ; 292 (1) : 21-28.
PMID 14720503
Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion.
Behboudi A, Winnes M, Gorunova L, van den Oord JJ, Mertens F, Enlund F, Stenman G
Genes, chromosomes & cancer. 2005 ; 43 (2) : 202-205.
PMID 15729701
Fusion oncogenes and tumor type specificity--insights from salivary gland tumors.
Stenman G
Seminars in cancer biology. 2005 ; 15 (3) : 224-235.
PMID 15826837
Transforming activity of MECT1-MAML2 fusion oncoprotein is mediated by constitutive CREB activation.
Wu L, Liu J, Gao P, Nakamura M, Cao Y, Shen H, Griffin JD
The EMBO journal. 2005 ; 24 (13) : 2391-2402.
PMID 15961999
Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene.
Behboudi A, Enlund F, Winnes M, Andrˆ©n Y, Nordkvist A, Leivo I, Flaberg E, Szekely L, Mˆ§kitie A, Grenman R, Mark J, Stenman G
Genes, chromosomes & cancer. 2006 ; 45 (5) : 470-481.
PMID 16444749
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI


Written07-2003Goran Stenman
Lundberg Laboratory for Cancer Research, Department of Pathology, Göteborg University, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden
Updated05-2006Afrouz Behboudi, Göran Stenman


This paper should be referenced as such :
Behboudi, A ; Stenman, G
CRTC1 (CREB regulated transcription coactivator 1)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):222-223.
Free journal version : [ pdf ]   [ DOI ]
History of this paper:
Behboudi, A ; Stenman, G. CRTC1 (CREB regulated transcription coactivator 1). Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):222-223.

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Feb 17 20:51:45 CET 2015

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