Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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)

Identity

Other namesTREB36
HGNC (Hugo) ATF1
LocusID (NCBI) 466
Location 12q13.12
Location_base_pair Starts at 51157789 and ends at 51214943 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

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

 

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

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004 rhabID5004 blad5001
bladID5001

External links

Nomenclature
HGNC (Hugo)ATF1   783
Cards
AtlasATF1ID81
Entrez_Gene (NCBI)ATF1  466  activating transcription factor 1
GeneCards (Weizmann)ATF1
Ensembl (Hinxton)ENSG00000123268 [Gene_View]  chr12:51157789-51214943 [Contig_View]  ATF1 [Vega]
ICGC DataPortalENSG00000123268
cBioPortalATF1
AceView (NCBI)ATF1
Genatlas (Paris)ATF1
WikiGenes466
SOURCE (Princeton)NM_005171
Genomic and cartography
GoldenPath (UCSC)ATF1  -  12q13.12   chr12:51157789-51214943 +  12q13   [Description]    (hg19-Feb_2009)
EnsemblATF1 - 12q13 [CytoView]
Mapping of homologs : NCBIATF1 [Mapview]
OMIM123803   
Gene and transcription
Genbank (Entrez)AK299240 AK313406 BC029619 BG502726 BG545632
RefSeq transcript (Entrez)NM_005171
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_027673 NT_029419 NW_001838057 NW_004929384
Consensus coding sequences : CCDS (NCBI)ATF1
Cluster EST : UnigeneHs.648565 [ NCBI ]
CGAP (NCI)Hs.648565
Alternative Splicing : Fast-db (Paris)GSHG0006658
Alternative Splicing GalleryENSG00000123268
Gene ExpressionATF1 [ NCBI-GEO ]     ATF1 [ SEEK ]   ATF1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18846 (Uniprot)
NextProtP18846  [Medical]
With graphics : InterProP18846
Splice isoforms : SwissVarP18846 (Swissvar)
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)    KID (PS50953)   
Domains : Interpro (EBI)bZIP [organisation]   Coactivator_CBP_pKID [organisation]   Leuzip_CREB [organisation]  
Related proteins : CluSTrP18846
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)P18846
Human Protein AtlasENSG00000123268 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP18846
HPRD00440
IPIIPI00002501   IPI00793405   IPI01022612   IPI01020870   IPI01020661   IPI01022934   
Protein Interaction databases
DIP (DOE-UCLA)P18846
IntAct (EBI)P18846
FunCoupENSG00000123268
BioGRIDATF1
InParanoidP18846
Interologous Interaction database P18846
IntegromeDBATF1
STRING (EMBL)ATF1
Ontologies - Pathways
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  toll-like receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  sequence-specific DNA binding transcription factor activity  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  transcription from RNA polymerase II promoter  positive regulation of neuron projection development  response to organic cyclic compound  response to cobalt ion  protein complex binding  toll-like receptor 2 signaling pathway  toll-like receptor 3 signaling pathway  toll-like receptor 4 signaling pathway  toll-like receptor 5 signaling pathway  toll-like receptor 9 signaling pathway  toll-like receptor 10 signaling pathway  TRIF-dependent toll-like receptor signaling pathway  toll-like receptor TLR1:TLR2 signaling pathway  toll-like receptor TLR6:TLR2 signaling pathway  cellular protein complex assembly  innate immune response  positive regulation of DNA replication  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  neurotrophin TRK receptor signaling pathway  stress-activated MAPK cascade  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  toll-like receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  sequence-specific DNA binding transcription factor activity  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  transcription from RNA polymerase II promoter  positive regulation of neuron projection development  response to organic cyclic compound  response to cobalt ion  protein complex binding  toll-like receptor 2 signaling pathway  toll-like receptor 3 signaling pathway  toll-like receptor 4 signaling pathway  toll-like receptor 5 signaling pathway  toll-like receptor 9 signaling pathway  toll-like receptor 10 signaling pathway  TRIF-dependent toll-like receptor signaling pathway  toll-like receptor TLR1:TLR2 signaling pathway  toll-like receptor TLR6:TLR2 signaling pathway  cellular protein complex assembly  innate immune response  positive regulation of DNA replication  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  neurotrophin TRK receptor signaling pathway  stress-activated MAPK cascade  
Pathways : BIOCARTATNF/Stress Related Signaling [Genes]   
Pathways : KEGGHTLV-I infection    Transcriptional misregulation in cancer   
Protein Interaction DatabaseATF1
Wikipedia pathwaysATF1
Gene fusion - rearrangments
Rearrangement : COSMICATF1 [12q13.12]  -  EWSR1 [22q12.2]  
  [COSF258] [COSF259] [COSF260] [COSF286] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ATF1 [12q13.12]  
  [COSF217] [COSF218] [COSF219] [COSF220] [COSF222] [COSF223] [COSF224] [COSF243] [COSF250] 
  [COSF251] [COSF252] [COSF253] [COSF254] [COSF256] [COSF257] [COSF299] 
Rearrangement : COSMICFUS [16p11.2]  -  ATF1 [12q13.12]  
  [COSF296] [COSF327] 
Rearrangement : TICdbEWSR1 [22q12.2]  -  ATF1 [4p16.3]
Rearrangement : TICdbFUS [16p11.2]  -  ATF1 [9p23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATF1
snp3D : Map Gene to Disease466
SNP (GeneSNP Utah)ATF1
SNP : HGBaseATF1
Genetic variants : HAPMAPATF1
Exome VariantATF1
1000_GenomesATF1 
ICGC programENSG00000123268 
Cancer Gene: CensusATF1 
Somatic Mutations in Cancer : COSMICATF1 
CONAN: Copy Number AnalysisATF1 
Mutations and Diseases : HGMDATF1
Genomic VariantsATF1  ATF1 [DGVbeta]
dbVarATF1
ClinVarATF1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM123803   
MedgenATF1
GENETestsATF1
Disease Genetic AssociationATF1
Huge Navigator ATF1 [HugePedia]  ATF1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneATF1
Homology/Alignments : Family Browser (UCSC)ATF1
Phylogenetic Trees/Animal Genes : TreeFamATF1
Chemical/Protein Interactions : CTD466
Chemical/Pharm GKB GenePA25083
Clinical trialATF1
Cancer Resource (Charite)ENSG00000123268
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineATF1
iHOPATF1
OncoSearchATF1

Bibliography

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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written11-1999Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/ATF1ID81.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 17:02:54 CEST 2014

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.