ATG4A
Autophagy Related 4A Cysteine Peptidase
Gene Information Card
| Symbol | ATG4A |
|---|---|
| Full Name | Autophagy Related 4A Cysteine Peptidase |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 115201 ncbi.nlm.nih.gov/gene/115201 |
| Ensembl ID | ENSG00000101844 |
| UniProt ID | Q8WYN0 |
| OMIM ID | 300854 |
| HGNC ID | 16489 |
| Aliases | APG4A, AUTL2, AUT-like 2, cysteine protease ATG4A |
Description
ATG4A is a cysteine protease that plays a key role in autophagy by cleaving the C-terminal glycine of ATG8 family proteins (e.g., GABARAP, GABARAPL1, GABARAPL2, LC3A, LC3B, LC3C), enabling their lipidation and incorporation into autophagosomal membranes. It also deconjugates ATG8 proteins from phosphatidylethanolamine, recycling them. ATG4A is essential for autophagosome formation and maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulated autophagy via altered ATG4A expression may promote tumorigenesis and chemoresistance. | COSMIC; PubMed |
| Neurodegenerative disorders | Impaired ATG4A activity may disrupt autophagic clearance of protein aggregates. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.2 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.3 | Medium |
| Skeletal Muscle | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 9.8 | Low expression |
| MCF7 | 13.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Reduced autophagic flux; impaired ATG8 processing.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • autophagy |
| • autophagosome assembly | • protein processing |
| • proteolysis |
Pathways
• Autophagy - animal
• Mitophagy
• Selective autophagy
Protein Summary
ATG4A is a 398-amino acid cysteine protease (UniProt Q8WYN0) that processes ATG8 family members (GABARAP, GABARAPL1, GABARAPL2, LC3A, LC3B, LC3C) by cleaving their C-terminal glycine, essential for their lipidation and autophagosome formation. It also deconjugates ATG8 proteins from autophagosomal membranes, recycling them. ATG4A is localized to the cytoplasm and autophagic structures.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG4A Knockout HEK293 Cell Line | EDJ-KQ7506 | Human | 115201 | Details Get a Quote |
| ATG4A Knockout A-549 Cell Line | EDJ-KQ32774 | Human | 115201 | Details Get a Quote |
| ATG4A Knockout HCT 116 Cell Line | EDJ-KQ32775 | Human | 115201 | Details Get a Quote |
| ATG4A Knockout HeLa Cell Line | EDJ-KQ32776 | Human | 115201 | Details Get a Quote |
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