ATOX1
Antioxidant 1 Copper Chaperone
Gene Information Card
| Symbol | ATOX1 |
|---|---|
| Full Name | Antioxidant 1 Copper Chaperone |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 475 ncbi.nlm.nih.gov/gene/475 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | O00244 |
| OMIM ID | 602270 |
| HGNC ID | 798 |
| Aliases | HAH1, ATOX-1, ATX1, HAH1P |
Description
ATOX1 encodes a copper chaperone that delivers copper to the trans-Golgi network for incorporation into copper-dependent enzymes, such as superoxide dismutase and ceruloplasmin. It also functions as an antioxidant by protecting cells from oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Menkes disease | Defective copper transport due to ATP7A mutations; ATOX1 interacts with ATP7A | PMID: 10430879 |
| Wilson disease | Copper accumulation; ATOX1 delivers copper to ATP7B | PMID: 10625637 |
| Cancer (breast, lung) | Altered ATOX1 expression may affect copper-dependent signaling and proliferation | PMID: 22952446 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 10.8 | Medium |
| Heart | 8.5 | Low |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.1 | High expression |
| HepG2 | 11.4 | Moderate expression |
| MCF7 | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced copper chaperone activity |
| c.64C>T | missense | <0.01% | Impaired interaction with ATP7A |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce copper delivery, leading to copper accumulation and oxidative stress.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding | • copper chaperone activity |
| • antioxidant activity | • intracellular copper ion transport |
| • response to oxidative stress |
Pathways
• Copper homeostasis
• Response to oxidative stress
Protein Summary
ATOX1 is a small cytosolic protein (68 amino acids) that binds a single copper ion via a conserved CXXC motif. It shuttles copper to ATP7A and ATP7B in the secretory pathway, essential for cuproenzyme maturation and cellular copper balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATOX1 Knockout HEK293 Cell Line | EDJ-KQ2078 | Human | 475 | Details Get a Quote |
| ATOX1 Knockout A-549 Cell Line | EDJ-KQ23537 | Human | 475 | Details Get a Quote |
| ATOX1 Knockout HCT 116 Cell Line | EDJ-KQ23538 | Human | 475 | Details Get a Quote |
| ATOX1 Knockout HeLa Cell Line | EDJ-KQ23539 | Human | 475 | Details Get a Quote |
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