The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product 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. Overexpre... See more...

Aliases for AATF Gene

Aliases for AATF Gene

  • Apoptosis Antagonizing Transcription Factor 2 3 5
  • CHE1 2 3 4
  • DED 2 3 4
  • Rb-Binding Protein Che-1 3 4
  • Protein AATF 3 4
  • CHE-1 2 3
  • BFR2 2 3
  • Apoptosis-Antagonizing Transcription Factor 4
  • AATF 5

External Ids for AATF Gene

Previous GeneCards Identifiers for AATF Gene

  • GC17P034690
  • GC17P037258
  • GC17P035037
  • GC17P035501
  • GC17P032380
  • GC17P035306
  • GC17P031244

Summaries for AATF Gene

Entrez Gene Summary for AATF Gene

  • The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for AATF Gene

AATF (Apoptosis Antagonizing Transcription Factor) is a Protein Coding gene. Diseases associated with AATF include Retinitis Pigmentosa 69 and Dysbaric Osteonecrosis. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include protein domain specific binding.

UniProtKB/Swiss-Prot Summary for AATF Gene

  • May function 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.

Gene Wiki entry for AATF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AATF Gene

Genomics for AATF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AATF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J036947 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.8 +0.5 482 3.5 RNF2 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 IKZF1 AATF ENSG00000277911 C17orf78
GH17J036972 Enhancer 1.3 VISTA UCNEbase Ensembl 22.5 +25.8 25847 6.4 ATF7 PRDM1 ZBTB44 CEBPB ZNF10 ZNF316 MAFF MAFK ZBTB17 CEBPG AATF ENSG00000277911 C17orf78
GH17J036978 Enhancer 1.4 VISTA UCNEbase Ensembl ENCODE 10.8 +30.9 30947 3 ZNF512 FOXA1 PRDM1 ZBTB44 CEBPB ZXDB ESR1 OSR2 NFIC WT1 ENSG00000277911 AATF LHX1 C17orf78
GH17J037044 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 +100.7 100747 9.8 CTCF ZNF629 LEF1 ZNF692 JUND ZNF143 ZIC2 ZSCAN4 PKNOX1 PATZ1 AATF ENSG00000278638 LOC105371753 RF00017-2358 C17orf78
GH17J037017 Enhancer 0.9 UCNEbase Ensembl 10.7 +69.7 69746 4.2 FOXA1 ZNF585B FOXA2 OSR2 JUND POLR2A RCOR1 HNF4A PRDM6 SMARCA4 AATF RF00017-2357 ENSG00000277589 C17orf78
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AATF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AATF

Top Transcription factor binding sites by QIAGEN in the AATF gene promoter:
  • AP-1
  • ARP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • p53

Genomic Locations for AATF Gene

Genomic Locations for AATF Gene
chr17:36,948,954-37,056,871
(GRCh38/hg38)
Size:
107,918 bases
Orientation:
Plus strand
chr17:35,306,175-35,414,171
(GRCh37/hg19)
Size:
107,997 bases
Orientation:
Plus strand

Genomic View for AATF Gene

Genes around AATF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AATF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AATF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AATF Gene

Proteins for AATF Gene

  • Protein details for AATF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY61-AATF_HUMAN
    Recommended name:
    Protein AATF
    Protein Accession:
    Q9NY61
    Secondary Accessions:
    • A6NCJ6
    • B3KQ26
    • Q9P0A4
    • Q9UNX5

    Protein attributes for AATF Gene

    Size:
    560 amino acids
    Molecular mass:
    63133 Da
    Quaternary structure:
    • Binds PAWR, POLR2J, RB1/RB, RBL1/P107, RBL2/P130, and SP1. May also bind MAPT.
    SequenceCaution:
    • Sequence=AAD52016.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AATF Gene

neXtProt entry for AATF Gene

Post-translational modifications for AATF Gene

  • Hyperphosphorylated during the G1/S phase transition.
  • Ubiquitination at Lys159, Lys228, Lys246, Lys403, Lys475, Lys496, and Lys522
  • Modification sites at PhosphoSitePlus

Other Protein References for AATF Gene

No data available for DME Specific Peptides for AATF Gene

Domains & Families for AATF Gene

Gene Families for AATF Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AATF Gene

InterPro:
Blocks:
  • TRAUB
ProtoNet:

Suggested Antigen Peptide Sequences for AATF Gene

GenScript: Design optimal peptide antigens:
  • Rb-binding protein Che-1 (AATF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NY61

UniProtKB/Swiss-Prot:

AATF_HUMAN :
  • Belongs to the AATF family.
Family:
  • Belongs to the AATF family.
genes like me logo Genes that share domains with AATF: view

Function for AATF Gene

Molecular function for AATF Gene

UniProtKB/Swiss-Prot Function:
May function 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.

Phenotypes From GWAS Catalog for AATF Gene

Gene Ontology (GO) - Molecular Function for AATF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 10783144
GO:0019901 protein kinase binding IEA --
GO:0043522 leucine zipper domain binding IEA,IPI 10580117
GO:0048156 tau protein binding IEA --
genes like me logo Genes that share ontologies with AATF: view
genes like me logo Genes that share phenotypes with AATF: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AATF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AATF Gene

Localization for AATF Gene

Subcellular locations from UniProtKB/Swiss-Prot for AATF Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AATF gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
golgi apparatus 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AATF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10580117
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IBA,IDA --
GO:0005737 cytoplasm IEA,IDA 14627703
genes like me logo Genes that share ontologies with AATF: view

Pathways & Interactions for AATF Gene

genes like me logo Genes that share pathways with AATF: view

SIGNOR curated interactions for AATF Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for AATF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEP 18049476
GO:0007346 regulation of mitotic cell cycle IEA --
GO:0032929 negative regulation of superoxide anion generation IDA 15207272
GO:0042254 ribosome biogenesis IEA --
genes like me logo Genes that share ontologies with AATF: view

Drugs & Compounds for AATF Gene

(2) Drugs for AATF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AATF: view

Transcripts for AATF Gene

mRNA/cDNA for AATF Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AATF

Alternative Splicing Database (ASD) splice patterns (SP) for AATF Gene

No ASD Table

Relevant External Links for AATF Gene

GeneLoc Exon Structure for
AATF

Expression for AATF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AATF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AATF Gene

This gene is overexpressed in Lung (17.6), Blymphocyte (11.6), Pancreas (9.2), and CD8 Tcells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AATF Gene



Protein tissue co-expression partners for AATF Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AATF

SOURCE GeneReport for Unigene cluster for AATF Gene:

Hs.195740

mRNA Expression by UniProt/SwissProt for AATF Gene:

Q9NY61-AATF_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed at high levels in brain, heart, kidney, placenta and thymus.

Evidence on tissue expression from TISSUES for AATF Gene

  • Skin(4.6)
  • Blood(4.5)
  • Muscle(4.5)
  • Nervous system(4.2)
  • Kidney(2.8)
  • Liver(2.7)
  • Heart(2.6)
  • Spleen(2.6)
  • Intestine(2.5)
  • Lung(2.5)
  • Lymph node(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with AATF: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AATF Gene

Orthologs for AATF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AATF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AATF 30
  • 99.52 (n)
Dog
(Canis familiaris)
Mammalia AATF 30
  • 87.85 (n)
Cow
(Bos Taurus)
Mammalia AATF 30
  • 85.66 (n)
Rat
(Rattus norvegicus)
Mammalia Aatf 30
  • 83.52 (n)
Mouse
(Mus musculus)
Mammalia Aatf 30 17
  • 83.17 (n)
Chicken
(Gallus gallus)
Aves AATF 30
  • 68.89 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aatf 30
  • 64.73 (n)
Str.10137 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7093 30
Zebrafish
(Danio rerio)
Actinopterygii aatf 30
  • 60.93 (n)
sbcb109 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13361 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007394 30
  • 47.27 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y73E7A.2 30
  • 42.16 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G61330 30
  • 46.06 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0526200 30
  • 45.77 (n)
Species where no ortholog for AATF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AATF Gene

ENSEMBL:
Gene Tree for AATF (if available)
TreeFam:
Gene Tree for AATF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AATF: view image

Paralogs for AATF Gene

No data available for Paralogs for AATF Gene

Variants for AATF Gene

Additional dbSNP identifiers (rs#s) for AATF Gene

Structural Variations from Database of Genomic Variants (DGV) for AATF Gene

Variant ID Type Subtype PubMed ID
esv1366836 CNV deletion 17803354
esv2315584 CNV deletion 18987734
esv2457233 CNV deletion 19546169
esv2715886 CNV deletion 23290073
esv3554381 CNV deletion 23714750
esv3640480 CNV gain 21293372
nsv112350 CNV insertion 16902084
nsv112468 CNV insertion 16902084
nsv1142216 CNV tandem duplication 24896259
nsv833430 CNV gain+loss 17160897
nsv960597 CNV deletion 23825009

Variation tolerance for AATF Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AATF Gene

Human Gene Mutation Database (HGMD)
AATF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AATF

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AATF Gene

Disorders for AATF Gene

MalaCards: The human disease database

(5) MalaCards diseases for AATF Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 69
  • rp69
dysbaric osteonecrosis
  • caisson disease of bone
lacrimal apparatus disease
  • lacrimal apparatus diseases
alzheimer disease
  • ad
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search AATF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AATF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AATF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AATF Gene

Publications for AATF Gene

  1. Identification of a novel partner of RNA polymerase II subunit 11, Che-1, which interacts with and affects the growth suppression function of Rb. (PMID: 10783144) Fanciulli M … Passananti C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2000) 2 3 4 23
  2. AATF inhibits aberrant production of amyloid beta peptide 1-42 by interacting directly with Par-4. (PMID: 14627703) Guo Q … Xie J (The Journal of biological chemistry 2004) 3 4 23
  3. AATF protects neural cells against oxidative damage induced by amyloid beta-peptide. (PMID: 15207272) Xie J … Guo Q (Neurobiology of disease 2004) 3 4 23
  4. Rb binding protein Che-1 interacts with Tau in cerebellar granule neurons. Modulation during neuronal apoptosis. (PMID: 14697667) Barbato C … Passananti C (Molecular and cellular neurosciences 2003) 3 4 23
  5. Identification of novel transcription factor-like gene from human intestinal cells. (PMID: 11027528) Lindfors K … Kainulainen H (Biochemical and biophysical research communications 2000) 2 3 4

Products for AATF Gene

  • Signalway Proteins for AATF

Sources for AATF Gene