ATF1 (activating transcription factor 1)

1999-11-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
12q13.12
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
EWS-ATF1,FUS/ATF-1,TREB36
FUSION GENES

DNA/RNA

Transcription

816 bp mRNA

Proteins

Description

271 amino acids; possess a basic motif and a leucine-zipper; dimerisation with other ATF family members (e.g. ATF-1 homodimers and ATF-1/CREB heterodimers)

Localisation

nuclear

Function

DNA binding protein, binds the consensus sequence: 5GTGACGT(A/C)(A/G)-3; cAMP-inducible transcription factor (cAMP-responsive enhancer-binding protein (CRE), like CREB

Homology

members of the CREB protein family

Implicated in

Entity name
malignant melanoma of soft parts
Disease
very rare neuroectodermal tumour
Prognosis
very poor
Cytogenetics
characterised by the translocation t(12;22)(q13;q12)
Hybrid gene
5 EWSR1- 3 ATF1
Fusion protein
the chimaeric protein is composed of the N-terminal domain of EWS linked to the bZIP domain of ATF-1
Oncogenesis
binds to ATF sites present in cAMP-responsive promoters via the ATF1 bZIP domain and activates transcription constitutively, dependent on the activation domain (EAD) present in EWSR1

Breakpoints

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
93981631997ATF1 and CREB trans-activate a cell cycle regulated histone H4 gene at a distal nuclear matrix associated promoter element.Guo B et al
95690311998The EWS/ATF1 fusion protein contains a dispersed activation domain that functions directly.Pan S et al
16557491991The cAMP-regulated enhancer-binding protein ATF-1 activates transcription in response to cAMP-dependent protein kinase A.Rehfuss RP et al
21961761990Multiple cDNA clones encoding nuclear proteins that bind to the tax-dependent enhancer of HTLV-1: all contain a leucine zipper structure and basic amino acid domain.Yoshimura T et al
84015791993EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts.Zucman J et al

Other Information

Locus ID:

NCBI: 466
MIM: 123803
HGNC: 783
Ensembl: ENSG00000123268

Variants:

dbSNP: 466
ClinVar: 466
TCGA: ENSG00000123268
COSMIC: ATF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123268ENST00000262053P18846
ENSG00000123268ENST00000549612F8VRN2
ENSG00000123268ENST00000551831F8VYE5
ENSG00000123268ENST00000552487F8VYN3
ENSG00000123268ENST00000552510F8VS03

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 10 (TLR10) CascadeREACTOMER-HSA-168142
MyD88 cascade initiated on plasma membraneREACTOMER-HSA-975871
MAP kinase activation in TLR cascadeREACTOMER-HSA-450294
MAPK targets/ Nuclear events mediated by MAP kinasesREACTOMER-HSA-450282
CREB phosphorylationREACTOMER-HSA-199920
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
Toll Like Receptor 5 (TLR5) CascadeREACTOMER-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) CascadeREACTOMER-HSA-168181
MyD88 dependent cascade initiated on endosomeREACTOMER-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationREACTOMER-HSA-975138
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Nuclear Events (kinase and transcription factor activation)REACTOMER-HSA-198725
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
127342092003Leptin enhances, via AP-1, expression of aromatase in the MCF-7 cell line.74
220529152012Activating transcription factor 1 directs Mhem atheroprotective macrophages through coordinated iron handling and foam cell protection.56
214849322011EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland.48
199502262010Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk women.45
121956992002Activated protein C inhibits lipopolysaccharide-induced tumor necrosis factor-alpha production by inhibiting activation of both nuclear factor-kappa B and activator protein-1 in human monocytes.36
195615682009Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts).30
118774232002Composition and function of AP-1 transcription complexes during muscle cell differentiation.27
300263262018A Rare Missense Variant in TCF7L2 Associates with Colorectal Cancer Risk by Interacting with a GWAS-Identified Regulatory Variant in the MYC Enhancer.27
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23

Citation

Jean-Loup Huret

ATF1 (activating transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 1999-11-01

Online version: http://atlasgeneticsoncology.org/gene/81/atf1