ATG13
Autophagy Related 13
Gene Information Card
| Symbol | ATG13 |
|---|---|
| Full Name | Autophagy Related 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 9776 ncbi.nlm.nih.gov/gene/9776 |
| Ensembl ID | ENSG00000175224 |
| UniProt ID | O75143 |
| OMIM ID | 615089 |
| HGNC ID | 28991 |
| Aliases | KIAA0652, FLJ20698, MGC40489 |
Description
ATG13 (Autophagy Related 13) is a protein-coding gene that encodes a key component of the ULK1/2 complex, which is essential for the initiation of macroautophagy. The protein is required for autophagosome formation and is regulated by nutrient and energy status via mTOR and AMPK signaling. ATG13 interacts with ULK1/2, RB1CC1 (FIP200), and ATG101 to form the autophagy initiation complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired autophagy due to ATG13 dysregulation may contribute to accumulation of toxic protein aggregates. | PMID: 25621951 |
| Cancer (e.g., breast, colorectal) | Altered ATG13 expression can modulate tumor cell survival under metabolic stress. | COSMIC; PMID: 25921543 |
| Crohn's disease | Autophagy defects linked to ATG13 variants may impair clearance of intracellular bacteria. | ClinVar; PMID: 21170022 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 6.1 | Low |
| Skeletal muscle | 4.7 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical carcinoma cells |
| MCF7 | 9.8 | Breast cancer cells |
| HepG2 | 7.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.125C>T (p.Thr42Ile) | Missense | 0.02% | Unknown functional effect |
| c.788delG (p.Gly263Valfs*12) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the start codon are classified as loss-of-function, impairing autophagy initiation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ATG13.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting ULK1 complex assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Autophagy - animal (KEGG: hsa04140)
• mTOR signaling pathway (KEGG: hsa04150)
• AMPK signaling pathway (KEGG: hsa04152)
• Regulation of autophagy (Reactome: R-HSA-1632852)
Protein Summary
ATG13 is a 517-amino acid protein (UniProt O75143) that localizes to the phagophore assembly site (PAS) and is essential for autophagosome formation. It contains a conserved HORMA domain and an intrinsically disordered region that mediates interactions with ULK1/2 and ATG101. Post-translational modifications include phosphorylation by mTOR and AMPK, which regulate its activity in response to nutrient availability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG13 Knockout HEK293 Cell Line | EDJ-KQ6744 | Human | 9776 | Details Get a Quote |
| ATG13 Knockout A-549 Cell Line | EDJ-KQ31146 | Human | 9776 | Details Get a Quote |
| ATG13 Knockout HCT 116 Cell Line | EDJ-KQ31147 | Human | 9776 | Details Get a Quote |
| ATG13 Knockout HeLa Cell Line | EDJ-KQ31148 | Human | 9776 | Details Get a Quote |
