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AATF apoptosis antagonizing transcription factor [ Homo sapiens (human) ]

Gene ID: 26574, updated on 9-Sep-2018

Summary

Official Symbol
AATFprovided by HGNC
Official Full Name
apoptosis antagonizing transcription factorprovided by HGNC
Primary source
HGNC:HGNC:19235
See related
Ensembl:ENSG00000275700 MIM:608463; Vega:OTTHUMG00000188458
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DED; BFR2; CHE1; CHE-1
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 16.6), appendix (RPKM 15.2) and 25 other tissues See more
Orthologs

Genomic context

See AATF in Genome Data Viewer
Location:
17q12
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (36948875..37056871)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35306175..35414171)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene LHX1 divergent transcript Neighboring gene VISTA enhancer hs363 Neighboring gene LIM homeobox 1 Neighboring gene uncharacterized LOC105371753 Neighboring gene microRNA 2909 Neighboring gene acetyl-CoA carboxylase alpha Neighboring gene high mobility group box 1 pseudogene 24 Neighboring gene ribosomal protein S2 pseudogene 49

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
    Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
  • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
    NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
  • Regulation of retinoblastoma protein, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of retinoblastoma protein, organism-specific biosystem
    Regulation of retinoblastoma protein
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
    p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
leucine zipper domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tau protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
embryonic cleavage IEA
Inferred from Electronic Annotation
more info
 
negative regulation of amyloid precursor protein biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of superoxide anion generation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
ribosome biogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein AATF
Names
rb-binding protein Che-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012138.3NP_036270.1  protein AATF

    See identical proteins and their annotated locations for NP_036270.1

    Status: REVIEWED

    Source sequence(s)
    AF083208, AK057229, BC000591
    Consensus CDS
    CCDS32632.1
    UniProtKB/Swiss-Prot
    Q9NY61
    Related
    ENSP00000477848.1, OTTHUMP00000276646, ENST00000619387.4, OTTHUMT00000477299
    Conserved Domains (2) summary
    pfam08164
    Location:464548
    TRAUB; Apoptosis-antagonizing transcription factor, C-terminal
    pfam13339
    Location:221373
    AATF-Che1; Apoptosis antagonizing transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    36948875..37056871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524611.2XP_011522913.1  protein AATF isoform X1

    See identical proteins and their annotated locations for XP_011522913.1

    Conserved Domains (2) summary
    pfam08164
    Location:464524
    TRAUB; Apoptosis-antagonizing transcription factor, C-terminal
    pfam13339
    Location:221373
    AATF-Che1; Apoptosis antagonizing transcription factor

RNA

  1. XR_934439.3 RNA Sequence

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    1185240..1293236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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