ATG7 (Autophagy Related 7)
A key E1-like activating enzyme for autophagy and cytoplasmic to vacuole targeting
Gene Information Card
| Symbol | ATG7 |
|---|---|
| Full Name | Autophagy Related 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 10533 ncbi.nlm.nih.gov/gene/10533 |
| Ensembl ID | ENSG00000197548 |
| UniProt ID | O95352 |
| OMIM ID | 608760 |
| HGNC ID | 793 |
| Aliases | APG7, APG7L, GSA7, hAGP7, ATG7A, ATG7B |
Description
ATG7 encodes an E1-like activating enzyme essential for autophagy and cytoplasmic to vacuole targeting (Cvt). It activates the ubiquitin-like proteins ATG12 and LC3 (MAP1LC3A/B/C) by forming a thioester bond, enabling their conjugation to ATG5 and phosphatidylethanolamine respectively. This process is critical for autophagosome formation, degradation of cytoplasmic components, and cellular homeostasis. ATG7 is also involved in non-autophagic functions such as vesicle trafficking and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer disease, Parkinson disease) | Impaired autophagy leads to accumulation of misfolded proteins and damaged organelles, contributing to neuronal cell death. | PMID: 17015619, PMID: 21884979 |
| Cancer (e.g., colorectal, breast, lung) | ATG7 loss can promote tumorigenesis by disrupting autophagy-mediated tumor suppression, but in established tumors it may support survival under metabolic stress. | PMID: 25643323, PMID: 26921362 |
| Crohn disease | ATG7 variants are associated with defective autophagy in intestinal epithelial cells, impairing clearance of intracellular bacteria. | PMID: 21102463 |
| Metabolic syndrome | ATG7 deficiency in adipose tissue impairs lipid metabolism and insulin sensitivity. | PMID: 19834491 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Liver | 4.8 | Medium |
| Skeletal muscle | 3.1 | Low |
| Heart | 2.9 | Low |
| Kidney | 4.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | High expression |
| HeLa | 5.8 | High expression |
| MCF7 | 4.2 | Medium expression |
| HepG2 | 3.9 | Medium expression |
| SH-SY5Y | 5.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1450C>T (p.Arg484Ter) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; initiation codon disruption |
| c.1048G>A (p.Glu350Lys) | Missense | Rare | Reduced E1 activity; impaired autophagy |
| c.1699C>T (p.Arg567Cys) | Missense | Rare | Decreased protein stability; partial loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt the E1 catalytic activity or protein stability, leading to impaired autophagy and accumulation of p62/SQSTM1.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ATG7.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; ATG7 functions as a homodimer, but heterozygous loss-of-function may cause haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • photoreceptor activity (GO:0009881) | • ligase activity (GO:0016874) |
| • ubiquitin-like modifier activating enzyme activity (GO:0008641) | • autophagy (GO:0006914) |
| • autophagosome assembly (GO:0030242) | • cytoplasm (GO:0005737) |
| • autophagosome (GO:0005776) |
Pathways
• Autophagy - Homo sapiens (human) (KEGG: hsa04140)
• Mitophagy - Homo sapiens (human) (Reactome: R-HSA-5205647)
• Selective autophagy (Reactome: R-HSA-9663891)
• LC3/GABARAP conjugation (Reactome: R-HSA-1632852)
Protein Summary
ATG7 is a 699-amino acid protein (78 kDa) that functions as an E1-like activating enzyme for the ubiquitin-like proteins ATG12 and LC3. It contains an N-terminal domain for dimerization and a C-terminal catalytic domain with a conserved cysteine residue (Cys572) that forms a thioester intermediate. ATG7 is essential for autophagosome biogenesis and is widely expressed in human tissues. Its activity is regulated by phosphorylation and acetylation, and its deficiency leads to severe autophagy defects, accumulation of protein aggregates, and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG7 Knockout HEK293 Cell Line | EDC90151 | Human | 10533 | Details Get a Quote |
| ATG7 Knockout HeLa Cell Line | EDJ-KQ18266 | Human | 10533 | Details Get a Quote |
| ATG7 Knockout A-549 Cell Line | EDJ-KQ25486 | Human | 10533 | Details Get a Quote |
| ATG7 Knockout HCT 116 Cell Line | EDJ-KQ25487 | Human | 10533 | Details Get a Quote |
| ATG7 Knockout VeroE6/TMPRSS2 Cell Line | EDJ-KZ102 | African green monkey | 10533 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
