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ATF1 (activating transcription factor 1)

Identity

Other namesTREB36
HGNC (Hugo) ATF1
Location 12q13
Location_base_pair Starts at 49444086 and ends at 49501174 bp from pter ( according to hg18-Mar_2006)  [Mapping]

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

 

External links

Nomenclature
HGNC (Hugo)ATF1   783
Entrez_Gene (NCBI)ATF1  466  activating transcription factor 1
Cards
AtlasATF1ID81
GeneCards (Weizmann)ATF1
Ensembl (Hinxton)ENSG00000123268 [Gene_View]  ATF1 [Vega]
AceView (NCBI)ATF1
Genatlas (Paris)ATF1
euGene (Indiana)466
SOURCE (Stanford)NM_005171
Gene Expression (Array Express) ENSG00000123268
Genomic and cartography
GoldenPath (UCSC)ATF1  -  12q13   chr12:49444086-49501174 +  12q13   [Description]    (hg18-Mar_2006)
EnsemblATF1 - 12q13 [CytoView]
Mapping of homologs : NCBIATF1 [Mapview]
OMIM123803   
Gene and transcription
Gene : Genbank (Entrez)AK299240 AK313406 BC029619 BG502726 BG545632
Reference sequence (RefSeq transcript) :SRSNM_005171
Reference transcript : EntrezNM_005171
RefSeq genomic : SRSAC_000055 AC_000144 NC_000012 NT_029419 NW_001838057 NW_925351
RefSeq genomic : EntrezAC_000055 AC_000144 NC_000012 NT_029419 NW_001838057 NW_925351
Consensus coding sequences : CCDS NCBIATF1
Cluster EST : UnigeneHs.648565 [ SRS ] Hs.648565 [ NCBI ]
Alternative Splicing : Fast-db (Paris)6876
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP18846 (SRS) P18846 (Expasy) P18846 (Uniprot)
With graphics : InterProP18846
Splice isoforms : VarSplice FASTAP18846(VarSplice FASTA)
Domaine pattern : Prosite (SRS)BZIP (PS50217)    BZIP_BASIC (PS00036)    KID (PS50953)   
Domain pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)    KID (PS50953)   
Domains : Interpro (SRS)bZIP_1    Coactivator_CBP_pKID    Leuzip_CREB    TF_bZIP   
Domains : Interpro (EBI)bZIP_1    Coactivator_CBP_pKID    Leuzip_CREB    TF_bZIP   
Related proteins : CluSTrP18846
Domain families : Pfam SRSbZIP_1 (PF00170)    pKID (PF02173)   
Domain families : Pfam SangerbZIP_1 (PF00170)    pKID (PF02173)   
Domain families : Pfam NCBIpfam00170    pfam02173   
Domain families : Smart EMBLBRLZ (SM00338)  
Blocks (Seattle)P18846
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD00440
Protein Interaction databases
DIP (DOE-UCLA)P18846
IntAct (EBI)P18846
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIATF1
SNP : GeneSNP UtahATF1
SNP : HGBaseATF1
Genetic variants : HAPMAPATF1
Somatic Mutations in Cancer : COSMICATF1 
Rearrangement : COSMICATF1 12q13.13  -  EWSR1 22q12.2
Rearrangement : COSMICEWSR1 22q12.2  -  ATF1 12q13.13
Translocation Breakpoints in Cancer : TICdbATF1 
Mutations and Diseases : HGMDATF1
Hereditary diseases : OMIM123803   
Hereditary diseases : GENETests123803   
Diseases : Genetic AssociationATF1
General knowledge
Homologs : HomoloGeneATF1
Homology/Alignments : Family Browser UCSCATF1
Phylogenetic Trees/Animal Genes : TreeFamATF1
Chemical/Protein Interactions : CTD466
Keywords Ontology : AmiGOtranscription factor activity  nucleus  transcription factor complex  regulation of transcription, DNA-dependent  sequence-specific DNA binding  protein dimerization activity  
Keywords Ontology : EGO-EBItranscription factor activity  nucleus  transcription factor complex  regulation of transcription, DNA-dependent  sequence-specific DNA binding  protein dimerization activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesATF1 Related clones (RZPD - Berlin)
Literature
PubMed47 Pubmed reference(s) in Entrez
PubGeneATF1

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

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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. November 1999 .
URL : http://AtlasGeneticsOncology.org/Genes/ATF1ID81.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 6 13:45:17 CET 2010

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