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CRTC1 (CREB regulated transcription coactivator 1)

Written2006-05Afrouz Behboudi, Gâran Stenman
Department of Clinical Genetics, Institute of Biomedicine, Gâteborg University, Box 440, 405 30 Gâteborg, Sweden
This article is an update of :
2003-07Goran Stenman
Lundberg Laboratory for Cancer Research, Department of Pathology, Goteborg University, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden

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Identity

Alias (NCBI)KIAA0616
FLJ14027
WAMTP1
MECT1
TORC1
HGNC (Hugo) CRTC1
HGNC Alias symbKIAA0616
FLJ14027
TORC1
HGNC Alias nametransducer of regulated cAMP response element-binding protein
HGNC Previous nameMECT1
HGNC Previous namemucoepidermoid carcinoma translocated 1
LocusID (NCBI) 23373
Atlas_Id 471
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 18683680 and ends at 18782333 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping CRTC1.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)
CRTC1 (19p13.11)::CRTC1 (19p13.11)CRTC1 (19p13.11)::EWSR1 (22q12.2)CRTC1 (19p13.11)::KLHL26 (19p13.11)
CRTC1 (19p13.11)::LYPD4 (19q13.2)CRTC1 (19p13.11)::MAML2 (11q21)CRTC1 (19p13.11)::SORCS2 (4p16.1)
CRTC1 (19p13.11)::TMEM59L (19p13.11)MAML2 (11q21)::CRTC1 (19p13.11)

DNA/RNA

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

Protein

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

Note
  
Entity Mucoepidermoid carcinoma (most common type of malignant salivary gland tumor; second most frequent lung tumor of bronchial gland origin); benign Warthin's 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).
Hybrid/Mutated Gene CRTC1-MAML2. Exon 1 of MECT1 fused to exons 2-5 of MAML2.
 
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 red green signals marked by an arrowhead).
Reprinted partially from Publication 'Exp 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.'

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
  

Bibliography

Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene.
Behboudi A, Enlund F, Winnes M, Andrén Y, Nordkvist A, Leivo I, Flaberg E, Szekely L, Mäkitie A, Grenman R, Mark J, Stenman G
Genes, chromosomes & cancer. 2006 ; 45 (5) : 470-481.
PMID 16444749
 
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
 
Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors.
Enlund F, Behboudi A, Andrén Y, Oberg C, Lendahl U, Mark J, Stenman G
Experimental cell research. 2004 ; 292 (1) : 21-28.
PMID 14720503
 
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
 
Fusion oncogenes and tumor type specificity--insights from salivary gland tumors.
Stenman G
Seminars in cancer biology. 2005 ; 15 (3) : 224-235.
PMID 15826837
 
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
 
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
 

Citation

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:
Stenman, G. CRTC1 (CREB regulated transcription coactivator 1). Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):171-171.
http://documents.irevues.inist.fr/bitstream/handle/2042/37985/07-2003-CRTC1ID471ch19p13.pdf


External links

Nomenclature
HGNC (Hugo)CRTC1   16062
Cards
AtlasCRTC1ID471ch19p13
Entrez_Gene (NCBI)CRTC1    CREB regulated transcription coactivator 1
AliasesMAML2; MECT1; Mam-2; TORC-1; 
TORC1; WAMTP1
GeneCards (Weizmann)CRTC1
Ensembl hg19 (Hinxton)ENSG00000105662 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105662 [Gene_View]  ENSG00000105662 [Sequence]  chr19:18683680-18782333 [Contig_View]  CRTC1 [Vega]
ICGC DataPortalENSG00000105662
TCGA cBioPortalCRTC1
AceView (NCBI)CRTC1
Genatlas (Paris)CRTC1
SOURCE (Princeton)CRTC1
Genetics Home Reference (NIH)CRTC1
Genomic and cartography
GoldenPath hg38 (UCSC)CRTC1  -     chr19:18683680-18782333 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRTC1  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathCRTC1 - 19p13.11 [CytoView hg19]  CRTC1 - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000105662
Genome Data Viewer NCBICRTC1 [Mapview hg19]  
OMIM607536   
Gene and transcription
Genbank (Entrez)AB014516 AK024089 AU118537 AY040323 AY186998
RefSeq transcript (Entrez)NM_001098482 NM_015321 NM_025021
Consensus coding sequences : CCDS (NCBI)CRTC1
Gene ExpressionCRTC1 [ NCBI-GEO ]   CRTC1 [ EBI - ARRAY_EXPRESS ]   CRTC1 [ SEEK ]   CRTC1 [ MEM ]
Gene Expression Viewer (FireBrowse)CRTC1 [ Firebrowse - Broad ]
GenevisibleExpression of CRTC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23373
GTEX Portal (Tissue expression)CRTC1
Human Protein AtlasENSG00000105662-CRTC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CRTC1
Human Protein Atlas [tissue]ENSG00000105662-CRTC1 [tissue]
HPRD06339
Protein Interaction databases
BioGRIDCRTC1
STRING (EMBL)CRTC1
ZODIACCRTC1
Ontologies - Pathways
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCRTC1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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