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ATF1 (activating transcription factor 1)

Written1999-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesTREB36
HGNC (Hugo) ATF1
LocusID (NCBI) 466
Atlas_Id 81
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 51157789 and ends at 51214943 bp from pter ( according to hg19-Feb_2009)  [Mapping ATF1.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
ATF1 (12q13.12) / ATF1 (12q13.12)ATF1 (12q13.12) / EWSR1 (22q12.2)ATF1 (12q13.12) / FUS (16p11.2)
ATF1 (12q13.12) / GRIP1 (12q14.3)EWSR1 (22q12.2) / ATF1 (12q13.12)FUS (16p11.2) / ATF1 (12q13.12)

DNA/RNA

Transcription 816 bp mRNA

Protein

Description 271 amino acids; possess a basic motif and a leucine-zipper; dimerisation with other ATF family members (e.g. ATF-1 homodimers and ATF-1/CREB heterodimers)
Localisation nuclear
Function DNA binding protein, binds the consensus sequence: 5'GTGACGT(A/C)(A/G)-3'; cAMP-inducible transcription factor (cAMP-responsive enhancer-binding protein (CRE), like CREB
Homology members of the CREB protein family

Implicated in

Note
Entity malignant melanoma of soft parts
Disease very rare neuroectodermal tumour
Prognosis very poor
Cytogenetics characterised by the translocation t(12;22)(q13;q12)
Hybrid/Mutated Gene 5' EWSR1- 3' ATF1
Abnormal Protein the chimaeric protein is composed of the N-terminal domain of EWS linked to the bZIP domain of ATF-1
Oncogenesis binds to ATF sites present in cAMP-responsive promoters via the ATF1 bZIP domain and activates transcription constitutively, dependent on the activation domain (EAD) present in EWSR1
  

Breakpoints

 

Bibliography

ATF1 and CREB trans-activate a cell cycle regulated histone H4 gene at a distal nuclear matrix associated promoter element.
Guo B, Stein JL, van Wijnen AJ, Stein GS
Biochemistry. 1997 ; 36 (47) : 14447-14455.
PMID 9398163
 
The EWS/ATF1 fusion protein contains a dispersed activation domain that functions directly.
Pan S, Ming KY, Dunn TA, Li KK, Lee KA
Oncogene. 1998 ; 16 (12) : 1625-1631.
PMID 9569031
 
The cAMP-regulated enhancer-binding protein ATF-1 activates transcription in response to cAMP-dependent protein kinase A.
Rehfuss RP, Walton KM, Loriaux MM, Goodman RH
The Journal of biological chemistry. 1991 ; 266 (28) : 18431-18434.
PMID 1655749
 
Multiple cDNA clones encoding nuclear proteins that bind to the tax-dependent enhancer of HTLV-1: all contain a leucine zipper structure and basic amino acid domain.
Yoshimura T, Fujisawa J, Yoshida M
The EMBO journal. 1990 ; 9 (8) : 2537-2542.
PMID 2196176
 
EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts.
Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G
Nature genetics. 1993 ; 4 (4) : 341-345.
PMID 8401579
 

Citation

This paper should be referenced as such :
Huret, JL
ATF1 (activating transcription factor 1)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):179-180.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ATF1ID81.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  Soft Tissues: Angiomatoid fibrous histiocytoma
Soft Tissues: Clear cell sarcoma
Soft Tissues: Low grade fibromyxoid sarcoma
Soft Tissues: Melanoma: Malignant melanoma of soft parts
Soft Tissues: Liposarcoma: Myxoid liposarcoma
Soft tissue tumors: an overview
Soft Tissues: Angiomatoid fibrous histiocytoma with t(2;22)(q34;q12) EWSR1/CREB1
Soft Tissues: Angiomatoid fibrous histiocytoma with t(12;22)(q13;q12) EWSR1/ATF1

External links

Nomenclature
HGNC (Hugo)ATF1   783
Cards
AtlasATF1ID81
Entrez_Gene (NCBI)ATF1  466  activating transcription factor 1
AliasesEWS-ATF1; FUS/ATF-1; TREB36
GeneCards (Weizmann)ATF1
Ensembl hg19 (Hinxton)ENSG00000123268 [Gene_View]  chr12:51157789-51214943 [Contig_View]  ATF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000123268 [Gene_View]  chr12:51157789-51214943 [Contig_View]  ATF1 [Vega]
ICGC DataPortalENSG00000123268
TCGA cBioPortalATF1
AceView (NCBI)ATF1
Genatlas (Paris)ATF1
WikiGenes466
SOURCE (Princeton)ATF1
Genomic and cartography
GoldenPath hg19 (UCSC)ATF1  -     chr12:51157789-51214943 +  12q13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATF1  -     12q13   [Description]    (hg38-Dec_2013)
EnsemblATF1 - 12q13 [CytoView hg19]  ATF1 - 12q13 [CytoView hg38]
Mapping of homologs : NCBIATF1 [Mapview hg19]  ATF1 [Mapview hg38]
OMIM123803   
Gene and transcription
Genbank (Entrez)AK299240 AK313406 BC029619 BG502726 BG545632
RefSeq transcript (Entrez)NM_005171
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_027673 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)ATF1
Cluster EST : UnigeneHs.648565 [ NCBI ]
CGAP (NCI)Hs.648565
Alternative Splicing GalleryENSG00000123268
Gene ExpressionATF1 [ NCBI-GEO ]   ATF1 [ EBI - ARRAY_EXPRESS ]   ATF1 [ SEEK ]   ATF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)466
GTEX Portal (Tissue expression)ATF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18846 (Uniprot)
NextProtP18846  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18846
Splice isoforms : SwissVarP18846 (Swissvar)
PhosPhoSitePlusP18846
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)    KID (PS50953)   
Domains : Interpro (EBI)ATF1    bZIP    Coactivator_CBP_pKID    Leuzip_CREB   
Domain families : Pfam (Sanger)bZIP_1 (PF00170)    pKID (PF02173)   
Domain families : Pfam (NCBI)pfam00170    pfam02173   
Domain families : Smart (EMBL)BRLZ (SM00338)  
DMDM Disease mutations466
Blocks (Seattle)ATF1
SuperfamilyP18846
Human Protein AtlasENSG00000123268
Peptide AtlasP18846
HPRD00440
IPIIPI00002501   IPI00793405   IPI01022612   IPI01020870   IPI01020661   IPI01022934   
Protein Interaction databases
DIP (DOE-UCLA)P18846
IntAct (EBI)P18846
FunCoupENSG00000123268
BioGRIDATF1
STRING (EMBL)ATF1
ZODIACATF1
Ontologies - Pathways
QuickGOP18846
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription from RNA polymerase II promoter  positive regulation of neuron projection development  response to organic cyclic compound  response to cobalt ion  protein complex binding  cellular protein complex assembly  positive regulation of DNA replication  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  ATF1-ATF4 transcription factor complex  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription from RNA polymerase II promoter  positive regulation of neuron projection development  response to organic cyclic compound  response to cobalt ion  protein complex binding  cellular protein complex assembly  positive regulation of DNA replication  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  ATF1-ATF4 transcription factor complex  
Pathways : BIOCARTATNF/Stress Related Signaling [Genes]   
Pathways : KEGGHTLV-I infection    Transcriptional misregulation in cancer   
REACTOMEP18846 [protein]
REACTOME PathwaysR-HSA-199920 CREB phosphorylation [pathway]
REACTOME PathwaysR-HSA-199920 CREB phosphorylation [pathway]
NDEx NetworkATF1
Atlas of Cancer Signalling NetworkATF1
Wikipedia pathwaysATF1
Orthology - Evolution
OrthoDB466
GeneTree (enSembl)ENSG00000123268
Phylogenetic Trees/Animal Genes : TreeFamATF1
Homologs : HomoloGeneATF1
Homology/Alignments : Family Browser (UCSC)ATF1
Gene fusions - Rearrangements
Fusion : MitelmanATF1/GRIP1 [12q13.12/12q14.3]  
Fusion : MitelmanEWSR1/ATF1 [22q12.2/12q13.12]  [t(12;22)(q13;q12)]  
Fusion : MitelmanFUS/ATF1 [16p11.2/12q13.12]  [t(12;16)(q13;p11)]  
Fusion : COSMICFUS [16p11.2]  -  ATF1 [12q13.12]  [fusion_296]  [fusion_327]  
Fusion: TCGAATF1 12q13.12 GRIP1 12q14.3 LUAD
Fusion : TICdbEWSR1 [22q12.2]  -  ATF1 [12q13.12]
Fusion : TICdbFUS [16p11.2]  -  ATF1 [12q13.12]
Polymorphisms : SNP, variants
NCBI Variation ViewerATF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATF1
dbVarATF1
ClinVarATF1
1000_GenomesATF1 
Exome Variant ServerATF1
ExAC (Exome Aggregation Consortium)ATF1 (select the gene name)
Genetic variants : HAPMAP466
Genomic Variants (DGV)ATF1 [DGVbeta]
Mutations
ICGC Data PortalATF1 
TCGA Data PortalATF1 
Broad Tumor PortalATF1
OASIS PortalATF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusATF1 
Somatic Mutations in Cancer : COSMICATF1 
intOGen PortalATF1
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 ATF1
DgiDB (Drug Gene Interaction Database)ATF1
DoCM (Curated mutations)ATF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATF1 (select a term)
intoGenATF1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:51157789-51214943  ENSG00000123268
CONAN: Copy Number AnalysisATF1 
Mutations and Diseases : HGMDATF1
OMIM123803   
MedgenATF1
Genetic Testing Registry ATF1
NextProtP18846 [Medical]
TSGene466
GENETestsATF1
Huge Navigator ATF1 [HugePedia]
snp3D : Map Gene to Disease466
BioCentury BCIQATF1
ClinGenATF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD466
Chemical/Pharm GKB GenePA25083
Clinical trialATF1
Miscellaneous
canSAR (ICR)ATF1 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATF1
EVEXATF1
GoPubMedATF1
iHOPATF1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Sep 28 16:04:49 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.