AATF Gene (Protein Coding)

Apoptosis Antagonizing Transcription Factor

GC17P036948
GIFtS:
41
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
  • Rb-Binding Protein Che-1 3 4
  • Protein AATF 3 4
  • CHE1 3 4
  • DED 3 4
  • Apoptosis-Antagonizing Transcription Factor 4
  • CHE-1 3
  • BFR2 3

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 Lacrimal Apparatus Disease and Chromosome 17Q12 Deletion Syndrome. Among its related pathways are RET signaling and Regulation of retinoblastoma protein. 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

Additional gene information 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 for AATF Gene

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 756.8 +0.6 561 3.5 SIN3A SP1 ZBTB40 CTCF MLX RBPJ POLR2A CTBP1 USF2 ATF1 AATF ENSG00000277911
GH17J036972 Enhancer 1.3 VISTA UCNEbase Ensembl 22.5 +25.9 25926 6.4 ZNF362 MAFK PRDM1 ATF7 ZNF316 ZNF10 ZBTB17 ZNF18 CEBPG ZNF366 AATF ENSG00000277911
GH17J036978 Enhancer 1.4 VISTA UCNEbase Ensembl ENCODE 10.8 +31.0 31026 3 ZNF362 PRDM1 ZNF680 PKNOX1 ZNF512 ZEB2 ZXDB OSR2 PRDM4 KLF8 ENSG00000277911 AATF LHX1
GH17J037044 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 +100.8 100826 9.8 CTCF RAD21 SREBF1 SP1 MLLT1 SP7 ZSCAN21 SMARCA4 DPF2 PKNOX1 AATF ENSG00000278638 LOC105371753 RF00017-2358
GH17J037017 Enhancer 0.9 UCNEbase Ensembl 10.7 +69.8 69825 4.2 SP1 ZNF585B JUND OSR2 FOXA2 POLR2A RCOR1 HNF4A PRDM6 AATF RF00017-2357 ENSG00000277589
- 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 UCSC Golden Path with GeneCards custom track

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
chr17:36,948,875-37,056,871
(GRCh38/hg38)
Size:
107,997 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 Structure • Gene Density

RefSeq DNA sequence for AATF Gene

Proteins for AATF Gene

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  • 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; Positions=355, 365, 487, 498, 503; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AATF Gene

neXtProt entry for AATF Gene

Protein Expression for AATF Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

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

Blocks:
InterPro:
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

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  2. CRISPR
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  4. Inhibitory RNA
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  6. Cell Line

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

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CRISPR Products

Inhibitory RNA Products

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Clone Products

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 2
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for AATF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10580117
GO:0005730 nucleolus IBA 21873635
GO:0005737 cytoplasm IDA,IEA 14627703
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with AATF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AATF Gene

Pathways & Interactions for AATF Gene

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

SIGNOR curated interactions for AATF Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for AATF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IEP 18049476
GO:0007155 cell adhesion IEA --
GO:0007346 regulation of mitotic cell cycle IEA --
GO:0032929 negative regulation of superoxide anion generation IDA 15207272
GO:0040016 embryonic cleavage IEA --
genes like me logo Genes that share ontologies with AATF: view

Drugs & Compounds for AATF Gene

Products:

  1. Drug

(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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for AATF Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(362) Selected AceView cDNA sequences:
(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

Clone Products

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

No ASD Table

Relevant External Links for AATF Gene

GeneLoc Exon Structure for
AATF
ECgene alternative splicing isoforms for
AATF

Expression for AATF Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for AATF Gene
mRNA expression by BioGPS for AATF GenemRNA expression by GTEx 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

NURSA nuclear receptor signaling pathways regulating expression of AATF Gene:

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(4.5)
  • Blood(4.4)
  • Muscle(4.4)
  • Nervous system(4)
  • Kidney(2.3)
  • Heart(2.1)
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 32
  • 99.52 (n)
dog
(Canis familiaris)
 Mammalia AATF 32
  • 87.85 (n)
cow
(Bos Taurus)
 Mammalia AATF 32
  • 85.66 (n)
rat
(Rattus norvegicus)
 Mammalia Aatf 32
  • 83.52 (n)
mouse
(Mus musculus)
 Mammalia Aatf 17 32
  • 83.17 (n)
chicken
(Gallus gallus)
 Aves AATF 32
  • 68.89 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia aatf 32
  • 64.73 (n)
Str.10137 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7093 32
zebrafish
(Danio rerio)
 Actinopterygii aatf 32
  • 60.93 (n)
sbcb109 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13361 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007394 32
  • 47.27 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y73E7A.2 32
  • 42.16 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G61330 32
  • 46.06 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0526200 32
  • 45.77 (n)
Species where no ortholog for AATF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AATF Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000008224 -- 37,050,092(+) G/T intron_variant
rs1000070395 -- 37,019,802(+) TATTAT/TAT intron_variant
rs1000077055 -- 36,959,272(+) C/T intron_variant
rs1000101975 -- 37,005,825(+) T/C intron_variant
rs1000171472 -- 36,995,364(+) A/G intron_variant

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 for AATF Gene

Disorders for AATF Gene

MalaCards: The human disease database

(3) MalaCards diseases for AATF Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lacrimal apparatus disease
  • lacrimal apparatus diseases
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
alzheimer disease
  • ad
- 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
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 56
  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 56
  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 56
  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 56
  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 56

ExternalLinks

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