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AATF (Apoptosis Antagonizing Transcription Factor)

Written2006-12Deepak Kaul, Amit Khanna
Department of Expt. Medicine &Biotechnology, Postgraduate Institute of Medical Education &Research, Chandigarh- 160 012, India

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)DED
CHE-1
CHE1
BFR2
Other alias
HGNC (Hugo) AATF
LocusID (NCBI) 26574
Atlas_Id 534
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 35306175 and ends at 35414171 bp from pter ( according to hg19-Feb_2009)  [Mapping AATF.png]
Fusion genes
(updated 2016)
AATF (17q12) / AATF (17q12)AATF (17q12) / BCLAF1 (6q23.3)AATF (17q12) / GABRR2 (6q15)
AATF (17q12) / MPO (17q22)CMBL (5p15.2) / AATF (17q12)CPD (17q11.2) / AATF (17q12)
HNRNPA2B1 (7p15.2) / AATF (17q12)MLLT6 (17q12) / AATF (17q12)NUMA1 (11q13.4) / AATF (17q12)
TTLL5 (14q24.3) / AATF (17q12)
Note AATF affects cell growth by interfering with the recruitment of HDAC1 by retinoblastoma protein. Its over-expression activates DNA synthesis in quiescent NIH-3T3 cells through HFDAC1 displacement. Also, it is considered as a general HDAC1 competitor and its down-regulation is involved in colon carcinoma cell proliferation. It is also found to bind to TSG101 in a process that enhances androgen receptor-mediated transcription by promoting its mono-ubiquitination. It has been observed lately that AATF 12th exon truncation by HIV-1 specific encoded miRNA leads to HIV-1 disease progression. On other side its over-expression has been observed in various leukemic cell lines and is considered to be important for maintaining leukemic state.

DNA/RNA

Note Protein AATF (Apoptosis-antagonizing transcription factor) (Rb-binding protein Che-1). Total gene size being 107.996 kb and having transcribed region of 2.141 kb it codes for 561 amino acids.
Description Spans on 107.996 kb on genomic fragment and contains 12 exons.
Transcription 2023 bp mRNA
Pseudogene No pseudogenes for AATF are known.

Protein

Note 561 amino acids long protein contains POLR2J binding site at 273-315 amino acids, RB1 binding site at 316-372 amino acids, RB1 and SP1 binding site at 373-472 amino acids and Glu-rich region at 96-195 amino acids.
Description AATF was identified as an interacting partner with MAP3K12/DLK which happens to be a protein kinase known to be involved in the induction of cell apoptosis. Its protein contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis.
Expression Ubiquitously expressed. Expressed at high levels in brain, heart, kidney, placenta, thymus and moderate levels in blood mononuclear cells.
Localisation Nucleus; nucleolus.
Function It functions as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date.

Mutations

Note Several polymorphisms have been identified and but none of them has shown any association with any disease.

Implicated in

Note
  
Entity Leukemia
Note AATF plays a major role in immortalization of leukemic cells through up-regulation of Bcl2 gene expression.
Disease Haematopoitic malignancies
 
AATF dependent cross talk between cellular apoptosis and proliferation.
  
  
Entity AIDS
Note HIV-1 encodes a specific miRNA that has the inherent capacity to cleave 12th exon of AATF gene resulting in truncated AATF gene product which is destined to undergo degradation. Down-regulation of AATF gene expression is always accompanied by significant reduction in cell viability and down-regulation of gene coding for dicer which plays a crucial role in providing immunity at the nucleic acid level.
Disease Immunodeficiency, Lymphoadenopathy, Kaposi's sarcoma, AIDS dementia
 
HIV-1 encoded miRNA dependent AATF gene down-regulation and subsequent cell death.
  

Bibliography

Che-1 affects cell growth by interfering with the recruitment of HDAC1 by Rb.
Bruno T, De Angelis R, De Nicola F, Barbato C, Di Padova M, Corbi N, Libri V, Benassi B, Mattei E, Chersi A, Soddu S, Floridi A, Passananti C, Fanciulli M
Cancer cell. 2002 ; 2 (5) : 387-399.
PMID 12450794
 
TSG101 interacts with apoptosis-antagonizing transcription factor and enhances androgen receptor-mediated transcription by promoting its monoubiquitination.
Burgdorf S, Leister P, Scheidtmann KH
The Journal of biological chemistry. 2004 ; 279 (17) : 17524-17534.
PMID 14761944
 
Che-1 arrests human colon carcinoma cell proliferation by displacing HDAC1 from the p21WAF1/CIP1 promoter.
Di Padova M, Bruno T, De Nicola F, Iezzi S, D'Angelo C, Gallo R, Nicosia D, Corbi N, Biroccio A, Floridi A, Passananti C, Fanciulli M
The Journal of biological chemistry. 2003 ; 278 (38) : 36496-36504.
PMID 12847090
 
Evidence and Nature of a novel miRNA Encoded by HIV-1.
Kaul D, Khanna A, Suman
Proc Indian Natn Sci Acad. 1972.
 
Functional characterization of AATF transcriptome in human leukemic cells.
Kaul D, Mehrotra A
Molecular and cellular biochemistry. 2007 ; 297 (1-2) : 215-220.
PMID 17006618
 

Citation

This paper should be referenced as such :
Khanna, A ; Kaul, D
AATF (Apoptosis Antagonizing Transcription Factor)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(2):88-89.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AATFID534ch17q11.html


External links

Nomenclature
HGNC (Hugo)AATF   19235
Cards
AtlasAATFID534ch17q11
Entrez_Gene (NCBI)AATF  26574  apoptosis antagonizing transcription factor
AliasesBFR2; CHE-1; CHE1; DED
GeneCards (Weizmann)AATF
Ensembl hg19 (Hinxton)ENSG00000275700 [Gene_View]  chr17:35306175-35414171 [Contig_View]  AATF [Vega]
Ensembl hg38 (Hinxton)ENSG00000275700 [Gene_View]  chr17:35306175-35414171 [Contig_View]  AATF [Vega]
ICGC DataPortalENSG00000275700
TCGA cBioPortalAATF
AceView (NCBI)AATF
Genatlas (Paris)AATF
WikiGenes26574
SOURCE (Princeton)AATF
Genetics Home Reference (NIH)AATF
Genomic and cartography
GoldenPath hg19 (UCSC)AATF  -     chr17:35306175-35414171 +  17q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AATF  -     17q12   [Description]    (hg38-Dec_2013)
EnsemblAATF - 17q12 [CytoView hg19]  AATF - 17q12 [CytoView hg38]
Mapping of homologs : NCBIAATF [Mapview hg19]  AATF [Mapview hg38]
OMIM608463   
Gene and transcription
Genbank (Entrez)AF083208 AF161395 AJ249940 AK026173 AK057229
RefSeq transcript (Entrez)NM_012138
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NT_187614 NW_004929407
Consensus coding sequences : CCDS (NCBI)AATF
Cluster EST : UnigeneHs.195740 [ NCBI ]
CGAP (NCI)Hs.195740
Alternative Splicing GalleryENSG00000275700
Gene ExpressionAATF [ NCBI-GEO ]   AATF [ EBI - ARRAY_EXPRESS ]   AATF [ SEEK ]   AATF [ MEM ]
Gene Expression Viewer (FireBrowse)AATF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26574
GTEX Portal (Tissue expression)AATF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NY61   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NY61  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NY61
Splice isoforms : SwissVarQ9NY61
PhosPhoSitePlusQ9NY61
Domains : Interpro (EBI)AATF    AATF_C   
Domain families : Pfam (Sanger)AATF-Che1 (PF13339)    TRAUB (PF08164)   
Domain families : Pfam (NCBI)pfam13339    pfam08164   
Conserved Domain (NCBI)AATF
DMDM Disease mutations26574
Blocks (Seattle)AATF
SuperfamilyQ9NY61
Human Protein AtlasENSG00000275700
Peptide AtlasQ9NY61
HPRD12236
IPIIPI00302238   
Protein Interaction databases
DIP (DOE-UCLA)Q9NY61
IntAct (EBI)Q9NY61
FunCoupENSG00000275700
BioGRIDAATF
STRING (EMBL)AATF
ZODIACAATF
Ontologies - Pathways
QuickGOQ9NY61
Ontology : AmiGOtranscription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleolus  nucleolus  cytoplasm  Golgi apparatus  centrosome  focal adhesion  cellular response to DNA damage stimulus  cell adhesion  regulation of mitotic cell cycle  negative regulation of superoxide anion generation  embryonic cleavage  ribosome biogenesis  negative regulation of amyloid precursor protein biosynthetic process  negative regulation of apoptotic process  leucine zipper domain binding  poly(A) RNA binding  positive regulation of transcription from RNA polymerase II promoter  tau protein binding  negative regulation of reactive oxygen species metabolic process  
Ontology : EGO-EBItranscription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleolus  nucleolus  cytoplasm  Golgi apparatus  centrosome  focal adhesion  cellular response to DNA damage stimulus  cell adhesion  regulation of mitotic cell cycle  negative regulation of superoxide anion generation  embryonic cleavage  ribosome biogenesis  negative regulation of amyloid precursor protein biosynthetic process  negative regulation of apoptotic process  leucine zipper domain binding  poly(A) RNA binding  positive regulation of transcription from RNA polymerase II promoter  tau protein binding  negative regulation of reactive oxygen species metabolic process  
REACTOMEQ9NY61 [protein]
REACTOME Pathways193648 [pathway]   
NDEx NetworkAATF
Atlas of Cancer Signalling NetworkAATF
Wikipedia pathwaysAATF
Orthology - Evolution
OrthoDB26574
GeneTree (enSembl)ENSG00000275700
Phylogenetic Trees/Animal Genes : TreeFamAATF
HOVERGENQ9NY61
HOGENOMQ9NY61
Homologs : HomoloGeneAATF
Homology/Alignments : Family Browser (UCSC)AATF
Gene fusions - Rearrangements
Fusion : MitelmanCPD/AATF [17q11.2/17q12]  [t(17;17)(q11;q12)]  
Fusion : MitelmanNUMA1/AATF [11q13.4/17q12]  [t(11;17)(q13;q12)]  
Fusion: TCGACPD 17q11.2 AATF 17q12 BRCA
Fusion: TCGAMLLT6 17q12 AATF 17q12 KIRC
Fusion: TCGANUMA1 11q13.4 AATF 17q12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAATF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AATF
dbVarAATF
ClinVarAATF
1000_GenomesAATF 
Exome Variant ServerAATF
ExAC (Exome Aggregation Consortium)AATF (select the gene name)
Genetic variants : HAPMAP26574
Genomic Variants (DGV)AATF [DGVbeta]
DECIPHER (Syndromes)17:35306175-35414171  ENSG00000275700
CONAN: Copy Number AnalysisAATF 
Mutations
ICGC Data PortalAATF 
TCGA Data PortalAATF 
Broad Tumor PortalAATF
OASIS PortalAATF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAATF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAATF
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 AATF
DgiDB (Drug Gene Interaction Database)AATF
DoCM (Curated mutations)AATF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AATF (select a term)
intoGenAATF
NCG5 (London)AATF
Cancer3DAATF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608463   
Orphanet
MedgenAATF
Genetic Testing Registry AATF
NextProtQ9NY61 [Medical]
TSGene26574
GENETestsAATF
Huge Navigator AATF [HugePedia]
snp3D : Map Gene to Disease26574
BioCentury BCIQAATF
ClinGenAATF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26574
Chemical/Pharm GKB GenePA128395780
Clinical trialAATF
Miscellaneous
canSAR (ICR)AATF (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAATF
EVEXAATF
GoPubMedAATF
iHOPAATF
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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