Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Alias (NCBI)TREB36
HGNC (Hugo) ATF1
HGNC Alias symbTREB36
LocusID (NCBI) 466
Atlas_Id 81
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 50764101 and ends at 50821162 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ATF1.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 ]


External links

 

Nomenclature
HGNC (Hugo)ATF1   783
Cards
AtlasATF1ID81
Entrez_Gene (NCBI)ATF1    activating transcription factor 1
AliasesEWS-ATF1; FUS/ATF-1; TREB36
GeneCards (Weizmann)ATF1
Ensembl hg19 (Hinxton)ENSG00000123268 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123268 [Gene_View]  ENSG00000123268 [Sequence]  chr12:50764101-50821162 [Contig_View]  ATF1 [Vega]
ICGC DataPortalENSG00000123268
TCGA cBioPortalATF1
AceView (NCBI)ATF1
Genatlas (Paris)ATF1
SOURCE (Princeton)ATF1
Genetics Home Reference (NIH)ATF1
Genomic and cartography
GoldenPath hg38 (UCSC)ATF1  -     chr12:50764101-50821162 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATF1  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathATF1 - 12q13.12 [CytoView hg19]  ATF1 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000123268
Genome Data Viewer NCBIATF1 [Mapview hg19]  
OMIM123803   
Gene and transcription
Genbank (Entrez)AK299240 AK313406 BC029619 BG502726 BG545632
RefSeq transcript (Entrez)NM_005171
Consensus coding sequences : CCDS (NCBI)ATF1
Gene ExpressionATF1 [ NCBI-GEO ]   ATF1 [ EBI - ARRAY_EXPRESS ]   ATF1 [ SEEK ]   ATF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATF1 [ Firebrowse - Broad ]
GenevisibleExpression of ATF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)466
GTEX Portal (Tissue expression)ATF1
Human Protein AtlasENSG00000123268-ATF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18846   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18846  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18846
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)  
Conserved Domain (NCBI)ATF1
SuperfamilyP18846
AlphaFold pdb e-kbP18846   
Human Protein Atlas [tissue]ENSG00000123268-ATF1 [tissue]
HPRD00440
Protein Interaction databases
DIP (DOE-UCLA)P18846
IntAct (EBI)P18846
Complex Portal (EBI)P18846 CPX-9 ATF1-ATF4 transcription factor complex
BioGRIDATF1
STRING (EMBL)ATF1
ZODIACATF1
Ontologies - Pathways
QuickGOP18846
Ontology : AmiGOchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  regulation of transcription by RNA polymerase II  positive regulation of neuron projection development  response to organic cyclic compound  response to cobalt ion  cellular protein-containing complex assembly  identical protein binding  protein-containing complex binding  positive regulation of DNA replication  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  ATF4-CREB1 transcription factor complex  ATF1-ATF4 transcription factor complex  
Ontology : EGO-EBIchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  regulation of transcription by RNA polymerase II  positive regulation of neuron projection development  response to organic cyclic compound  response to cobalt ion  cellular protein-containing complex assembly  identical protein binding  protein-containing complex binding  positive regulation of DNA replication  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  ATF4-CREB1 transcription factor complex  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 [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]  
Fusion : MitelmanFUS::ATF1 [16p11.2/12q13.12]  
Fusion : COSMICFUS [16p11.2]  -  ATF1 [12q13.12]  [fusion_296]  
Fusion : QuiverATF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATF1
dbVarATF1
ClinVarATF1
MonarchATF1
1000_GenomesATF1 
Exome Variant ServerATF1
GNOMAD BrowserENSG00000123268
Varsome BrowserATF1
ACMGATF1 variants
VarityP18846
Genomic Variants (DGV)ATF1 [DGVbeta]
DECIPHERATF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATF1 
Mutations
ICGC Data PortalATF1 
TCGA Data PortalATF1 
Broad Tumor PortalATF1
OASIS PortalATF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusATF1 
Somatic Mutations in Cancer : COSMICATF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DATF1
Mutations and Diseases : HGMDATF1
intOGen PortalATF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATF1
DgiDB (Drug Gene Interaction Database)ATF1
DoCM (Curated mutations)ATF1
CIViC (Clinical Interpretations of Variants in Cancer)ATF1
OncoKBATF1
NCG (London)ATF1
Cancer3DATF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123803   
Orphanet12894   
DisGeNETATF1
MedgenATF1
Genetic Testing Registry ATF1
NextProtP18846 [Medical]
GENETestsATF1
Target ValidationATF1
Huge Navigator ATF1 [HugePedia]
ClinGenATF1
Clinical trials, drugs, therapy
MyCancerGenomeATF1
Protein Interactions : CTDATF1
Pharm GKB GenePA25083
PharosP18846
Clinical trialATF1
Miscellaneous
canSAR (ICR)ATF1
HarmonizomeATF1
DataMed IndexATF1
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATF1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:12:49 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.