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

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; AllianceGenome:HGNC:19235
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (36948954..37056871)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (37936011..38043848)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (35306254..35414171)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response.
Title: HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response.
CK2-mediated phosphorylation of Che-1/AATF is required for its pro-proliferative activity.
Title: CK2-mediated phosphorylation of Che-1/AATF is required for its pro-proliferative activity.
AATF and SMARCA2 are associated with thyroid volume in Hashimoto's thyroiditis patients.
Title: AATF and SMARCA2 are associated with thyroid volume in Hashimoto's thyroiditis patients.
Che-1/AATF binds to RNA polymerase I machinery and sustains ribosomal RNA gene transcription.
Title: Che-1/AATF binds to RNA polymerase I machinery and sustains ribosomal RNA gene transcription.
drives hepatocarcinogenesis in nonalcoholic fatty liver disease
Title: A Regulatory Role of Apoptosis Antagonizing Transcription Factor in the Pathogenesis of Nonalcoholic Fatty Liver Disease and Hepatocellular Carcinoma.
miR-663 may function as an 'apoptomiR' by inhibiting the anti-apoptotic gene AATF to induce apoptosis. These findings could have therapeutic implications for epithelial cell targeting in cancer therapy.
Title: MicroRNA-663 antagonizes apoptosis antagonizing transcription factor to induce apoptosis in epithelial cells.
These data individuate Che-1 as a possible novel target in the treatment of B-cell precursor acute lymphoblastic leukemia able to affect c-Myc-driven tumorigenicity.
Title: A new baby in the c-Myc-directed transcriptional machinery: Che-1/AATF.
Identification of the transcriptional regulator AATF/CHE-1 as a key molecule to sustain proliferative tissues and tumor progression in parts by inhibiting p53-driven apoptosis in vivo.
Title: AATF suppresses apoptosis, promotes proliferation and is critical for Kras-driven lung cancer.
Genomewide ChIP-seq experiments suggest that Che-1 acts as a downstream effector of c-Myc. These results identify the pivotal role of Che-1 in the control of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) proliferation and present the protein as a possible therapeutic target in children with relapsed BCP-ALL
Title: Che-1 is targeted by c-Myc to sustain proliferation in pre-B-cell acute lymphoblastic leukemia.
Results show that Che-1 protects colon cancer cells from apoptosis induced by hypoxia through its ability to regulate HIF1-alpha stabilization in colorectal cancer cells.
Title: Che-1 sustains hypoxic response of colorectal cancer cells by affecting Hif-1α stabilization.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

WI-11337 (e-PCR)
- UniSTS:69127

D17S581 (e-PCR)
- UniSTS:147021

D17S1867 (e-PCR), detects polymorphism
- UniSTS:16986

G09336 (e-PCR)
- UniSTS:56704

A007I45 (e-PCR)
- UniSTS:27365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables leucine zipper domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables tau protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in embryonic cleavage	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of amyloid precursor protein biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of superoxide anion generation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: protein AATF

Names: rb-binding protein Che-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001411094.1 → NP_001398023.1 protein AATF isoform 2

Status: REVIEWED

Source sequence(s)

AC243773, AC244093

Consensus CDS

CCDS92291.1

UniProtKB/TrEMBL

A0A7P0TAR0

Related

ENSP00000506264.1, ENST00000680340.1
NM_012138.4 → NP_036270.1 protein AATF isoform 1

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

A6NCJ6, B3KQ26, Q9NY61, Q9P0A4, Q9UNX5

UniProtKB/TrEMBL

A0A7P0T868

Related

ENSP00000477848.1, ENST00000619387.5

Conserved Domains (3) summary

NF000535
Location:84 → 206

MSCRAMM_SdrC; MSCRAMM family adhesin SdrC

pfam08164
Location:464 → 548

TRAUB; Apoptosis-antagonizing transcription factor, C-terminal

pfam13339
Location:222 → 373

AATF-Che1; Apoptosis antagonizing transcription factor