circRNA basic information
circBase ID: -
Name: hsa_circ_ATXN1
Synonym: circATXN1 / circ-ATXN1
Host Gene: ATXN1
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: cytoplasm
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0005294
MONDO name: peripheral vascular disease
Disease details: ischemic disease
Disease DO ID:
341
Disease MeSH ID:
D016491
Disease NCIt ID:
C35136
Disease ICD11 ID:
-
Disease OMIM ID:
-
Species: Human
Species details: Homo sapiens
Tissue specimen:

peripheral blood; plasma; serum; heart; ischemic myocardial tissue; gastrocnemius muscle

Cell lines:

HCMECs; MCMECs; HUVECs; HEK293T; Valve ECs

In vivo animal model:

other disease animal model; genetically engineered animal model

circRNA-disease information
Expression pattern:
UP
Associated gene: ALKBH5, SLUG, CRM1, QKI, EGFR
Associated microRNA: -
Biological function: inhibits hypoxia-stimulated partial EndMT; inhibits angiogenesis and post-ischemic recovery; suppresses endothelial proliferation, migration and sprouting under hypoxia
Molecular mechanism: circATXN1 binds ALKBH5 and modulates its subcellular localization (prevents nuclear retention) via phosphorylation/CRM1 interaction, thereby altering m6A demethylation of pre-SLUG mRNA, reducing SLUG mRNA stability and inhibiting partial EndMT; not via miRNA sponge; does not encode peptides
Biological pathway or process:

EMT (inhibits); angiogenesis (inhibits); migration (inhibits); proliferation (inhibits); m6A modification (other pathway/process); mRNA stability (inhibits)

Detected method:
Q
S
Validation methods:

RNA-seq; RT-qPCR; RNase R Treatment; Back-Splice Junction PCR / divergent primers PCR; Sanger Sequencing; FISH / smFISH; Nuclear-Cytoplasmic Fractionation; RNA Pull-Down; RIP (RNA Immunoprecipitation); Co-IP; Luciferase Reporter Assay; Actinomycin D / DRB Stability Assay; MeRIP / MeRIP-seq; Transfection; CCK8; Transwell Assay; Tube Formation Assay; In Vivo Animal Model; H&E Staining; IF (Immunofluorescence); IHC (Immunohistochemistry); Survival Analysis; Clinical Sample Validation; Bioinformatics Analysis

Clinical significance:

circATXN1 expression in peripheral blood exosomes is higher in patients with myocardial infarction and lower limb ischemia than controls, suggesting it may serve as a biomarker to predict disease progression/severity/prognosis in ischemic conditions

Description:

circATXN1 is up-regulated in endothelial cells under ischemic/hypoxic conditions and in ischemic tissues, and is also elevated in peripheral blood exosomes of MI and lower limb ischemia patients. Functionally, circATXN1 restrains hypoxia-induced partial EndMT and angiogenesis, whereas circATXN1 knockdown promotes partial EndMT and improves post-ischemic vascular and cardiac recovery. Mechanistically, circATXN1 binds ALKBH5 to regulate its nuclear-cytoplasmic trafficking and m6A-dependent pre-SLUG mRNA stability, thereby controlling SLUG levels.

Confidence score:

0.8987

Other information
Title:

Regulation of partial endothelial-to-mesenchymal transition by circATXN1 in ischemic diseases.

Journal: Nature communications
Published: 2025
PubMed ID: 40640166
Study type:

combined biological and clinical study

Data availability: GSE100206; PRJNA390988; PRJNA1243694
Code availability: https://github.com/YanzeLIPub/Regulation-of-Partial-Endothelial-to-Mesenchymal-Transition-by-circATXN1-in-Ischemic-Diseases