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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATG4A
autophagy related 4A cysteine peptidase
Chromosome X · Xq22.3
NCBI Gene: 115201Ensembl: ENSG00000101844.19HGNC: HGNC:16489UniProt: B4DEA4
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ProteaseTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
autophagycysteine-type peptidase activityprotein-phosphatidylethanolamide deconjugating activityautophagosome assemblyX-linked Alport syndromegastric cancerbreast cancerneoplasm
✦AI Summary

ATG4A is a cysteine protease that plays dual roles in autophagy regulation through both proteolytic and non-proteolytic mechanisms. The protein's primary function involves processing ATG8 family proteins (LC3/GABARAP) by cleaving their C-terminal amino acids to expose glycine residues, which is essential for their conjugation to phosphatidylethanolamine and membrane insertion during autophagosome formation 1. ATG4A also mediates delipidation of PE-conjugated ATG8 proteins, showing stronger delipidation activity compared to ATG4B 1. Beyond its proteolytic functions, ATG4A promotes phagophore growth independently of its protease activity by regulating ATG9A trafficking to mitochondria and facilitating phagophore-endoplasmic reticulum contacts during lipid transfer 1. The protein demonstrates tissue-specific importance, being selectively upregulated in maturing human erythroid cells where its depletion impairs red blood cell production, terminal differentiation, and mitochondrial clearance 2. ATG4A expression is regulated by epigenetic mechanisms, with KMT2A promoting METTL3 expression through H3K4me3 modification, while METTL3-mediated m6A modification reduces ATG4A RNA stability 3. Clinical relevance includes upregulation during cardiac ischemia-reperfusion injury 4 and involvement in glioblastoma cholesterol homeostasis through lipophagy regulation 5.

Sources cited
1
ATG4A processes ATG8 family proteins and promotes phagophore growth independently of protease activity
PMID: 33773106
2
ATG4A is selectively upregulated in erythroid cells and essential for red blood cell maturation and mitochondrial clearance
PMID: 35443024
3
ATG4A expression is regulated by KMT2A-METTL3 axis through H3K4me3 and m6A modifications
PMID: 39572532
4
ATG4A is upregulated during human cardiac ischemia-reperfusion injury
PMID: 23778083
5
ATG4A contributes to glioblastoma cholesterol homeostasis through lipophagy regulation
PMID: 37436895
Disease Associationsⓘ20
X-linked Alport syndromeOpen Targets
0.26Weak
gastric cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
immunodeficiency 88Open Targets
0.03Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.03Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.03Suggestive
chronic myeloproliferative disorderOpen Targets
0.03Suggestive
nasopharyngeal carcinomaOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
GranulomaOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
nail-patella syndromeOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
myotonic dystrophy type 1Open Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ULK1Protein interaction100%ATG12Protein interaction100%GABARAPProtein interaction100%GABARAPL1Protein interaction100%ATG16L1Protein interaction100%WIPI1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
97%
Lung
77%
Bone Marrow
59%
Brain
40%
Ovary
25%
Gene Interaction Network
Click a node to explore
ATG4AULK1ATG12GABARAPGABARAPL1ATG16L1WIPI1
PROTEIN STRUCTURE
Preparing viewer…
PDB2P82 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.41–0.82]
RankingsWhere ATG4A stands among ~20K protein-coding genes
  • #9,176of 20,598
    Most Researched47
  • #6,932of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedATG4A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An Autophagic Flux Probe that Releases an Internal Control.
PMID: 27818143
Mol Cell · 2016
1.00
2
Autophagy drives fibroblast senescence through MTORC2 regulation.
PMID: 31931659
Autophagy · 2020
0.90
3
ATG4A regulates human erythroid maturation and mitochondrial clearance.
PMID: 35443024
Blood Adv · 2022
0.80
4
SREBP-1 upregulates lipophagy to maintain cholesterol homeostasis in brain tumor cells.
PMID: 37436895
Cell Rep · 2023
0.70
5
KMT2A regulates the autophagy-GATA4 axis through METTL3-mediated m
PMID: 39572532
Bone Res · 2024
0.60