ATG101
Autophagy Related 101
Gene Information Card
| Symbol | ATG101 |
|---|---|
| Full Name | Autophagy Related 101 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 60673 ncbi.nlm.nih.gov/gene/60673 |
| Ensembl ID | ENSG00000111224 |
| UniProt ID | Q9BSB4 |
| OMIM ID | 615089 |
| HGNC ID | 28319 |
| Aliases | C12orf44, FLJ10853 |
Description
ATG101 is a protein-coding gene that encodes a component of the autophagy initiation complex. The protein interacts with ATG13 and ULK1/2 to form the ULK1 complex, which is essential for autophagosome formation and autophagy regulation. ATG101 is conserved across eukaryotes and plays a critical role in cellular homeostasis, stress response, and quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered ATG101 expression may modulate autophagy-dependent tumor suppression or survival | PMID: 25609832 |
| Colorectal cancer | ATG101 upregulation associated with poor prognosis and autophagy activation | PMID: 28925394 |
| Neurodegenerative disorders | Impaired autophagy due to ATG101 dysregulation linked to protein aggregation | PMID: 27477023 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Liver | 7.1 | Medium |
| Kidney | 9.3 | Medium |
| Testis | 12.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | High expression |
| HeLa | 8.9 | Moderate expression |
| MCF7 | 7.3 | Moderate expression |
| HepG2 | 6.8 | Low 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.214C>T | Synonymous | <0.01% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • autophagy | • autophagosome assembly |
| • protein binding | • ULK1 complex |
| • cytoplasm |
Pathways
• Autophagy - animal
• mTOR signaling pathway
• ULK1/2 complex assembly
Protein Summary
ATG101 is a 218-amino acid protein (25 kDa) that localizes to the cytoplasm and is a core component of the ULK1/2-ATG13-FIP200 complex. It stabilizes ATG13 and facilitates autophagosome nucleation. The protein contains a conserved domain of unknown function (DUF) and is essential for starvation-induced autophagy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG101 Knockout HEK293 Cell Line | EDJ-KQ1103 | Human | 60673 | Details Get a Quote |
| ATG101 Knockout A-549 Cell Line | EDJ-KQ20281 | Human | 60673 | Details Get a Quote |
| ATG101 Knockout HCT 116 Cell Line | EDJ-KQ20282 | Human | 60673 | Details Get a Quote |
| ATG101 Knockout HeLa Cell Line | EDJ-KQ20283 | Human | 60673 | Details Get a Quote |