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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMBRA1
autophagy and beclin 1 regulator 1
Chromosome 11 · 11p11.2
NCBI Gene: 55626Ensembl: ENSG00000110497.15HGNC: HGNC:25990UniProt: A0A075B6T1
141PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription FactorTumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingprotein phosphatase bindingubiquitin protein ligase bindingneurodegenerative diseasehypertrophic cardiomyopathythrombophiliacardiomyopathy
✦AI Summary

AMBRA1 (autophagy and beclin 1 regulator 1) is a multifunctional scaffold protein serving as a substrate-recognition component of DCX(AMBRA1) E3 ubiquitin-ligase complexes. Its primary function involves regulating both cell cycle progression and autophagy through distinct mechanisms. In cell cycle control, AMBRA1 acts as a master regulator of G1/S transition by recognizing phosphorylated D-type cyclins (CCND1, CCND2, CCND3) and mediating their polyubiquitination and degradation through the DCX(AMBRA1) complex 1. This cyclin-D degradation function establishes AMBRA1 as a tumor suppressor that promotes genomic integrity and counteracts tumor growth 1. Additionally, AMBRA1 regulates MYC protein stability through interaction with protein phosphatase 2A (PPP2CA), promoting MYC dephosphorylation and degradation independently of DCX complexes. In autophagy regulation, AMBRA1 functions as a key modulator of the BECN1-PIK3C3 complex, controlling the transition from cytoskeletal tethering to autophagosome nucleation. Upon autophagy induction, AMBRA1 is released from dyneins DYNLL1/DYNLL2 to activate autophagy through Lys-63-linked ubiquitination of BECN1 and ULK1 2. AMBRA1 also regulates mitophagy by facilitating interaction between damaged mitochondria and autophagosomes through PRKN and LC3 proteins, with additional regulation via HUWE1-mediated MFN2 ubiquitination. Clinically, reduced AMBRA1 expression correlates with poor cancer survival and reduced sensitivity to CDK4/6 inhibitors 1. Recent evidence indicates AMBRA1's role in age-related diseases through mitophagy regulation 3, and emerging research demonstrates its involvement in cardiac fibrosis through secretory autophagy-derived extracellular vesicles 4.

Sources cited
1
AMBRA1 is the E3 ubiquitin ligase component (CRL4AMBRA1) targeting D-type cyclins for degradation, acts as tumor suppressor, and regulates response to CDK4/6 inhibition
PMID: 33854235
2
AMBRA1 acts as key regulator of autophagy by modulating BECN1-PIK3C3 complex and controlling protein turnover during neuronal development
PMID: 21358617
3
AMBRA1 selectively regulates mitophagy in post-mitotic cells and its defective activity is functionally linked to mitophagy alterations in age-related degenerative disorders including muscular dystrophy, Parkinson disease, Alzheimer disease, and age-related macular degeneration
PMID: 39113560
4
AMBRA1 is expressed on extracellular vesicle surfaces derived from cardiomyocytes and mediates secretory autophagy release, with internalization by fibroblasts triggering cGAS-STING pathway activation during cardiac fibrosis
PMID: 37517989
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
hypertrophic cardiomyopathyOpen Targets
0.36Weak
thrombophiliaOpen Targets
0.34Weak
cardiomyopathyOpen Targets
0.30Weak
peripheral vascular diseaseOpen Targets
0.29Weak
ThromboembolismOpen Targets
0.27Weak
Abnormality of the integumentOpen Targets
0.25Weak
lacrimal apparatus diseaseOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.18Weak
neural tube defectOpen Targets
0.17Weak
medical procedureOpen Targets
0.15Weak
trauma complicationOpen Targets
0.15Weak
complicationOpen Targets
0.14Weak
Esophageal atresiaOpen Targets
0.11Weak
pyloric stenosisOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Suggestive
Mantle cell lymphomaOpen Targets
0.09Suggestive
deep vein thrombosisOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCL2Protein interaction100%DYNLL1Protein interaction100%DDB2Protein interaction100%TRIM5Protein interaction100%RUBCNProtein interaction100%SH3GLB1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
75%
Brain
70%
Heart
63%
Lung
62%
Liver
55%
Gene Interaction Network
Click a node to explore
AMBRA1BCL2DYNLL1DDB2TRIM5RUBCNSH3GLB1
PROTEIN STRUCTURE
Preparing viewer…
PDB8WQR · 3.08 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.38 [0.30–0.49]
RankingsWhere AMBRA1 stands among ~20K protein-coding genes
  • #3,246of 20,598
    Most Researched141 · top quartile
  • #2,894of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedAMBRA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autophagy in age-related macular degeneration.
PMID: 35468037
Autophagy · 2023
1.00
2
CRL4
PMID: 33854235
Nature · 2021
0.90
3
Emerging dimensions of autophagy in melanoma.
PMID: 38497492
Autophagy · 2024
0.80
4
Intercellular mitochondrial component transfer triggers ischemic cardiac fibrosis.
PMID: 37517989
Sci Bull (Beijing) · 2023
0.70
5
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
PMID: 32048886
Autophagy · 2021
0.60