QSOX1: Quiescin Sulfhydryl Oxidase 1
A key enzyme in oxidative protein folding and redox regulation, implicated in cancer and fibrosis.
Gene Information Card
| Symbol | QSOX1 |
|---|---|
| Full Name | Quiescin Sulfhydryl Oxidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 5768 ncbi.nlm.nih.gov/gene/5768 |
| Ensembl ID | ENSG00000116260 |
| UniProt ID | O00391 |
| OMIM ID | 603564 |
| HGNC ID | 9601 |
| Aliases | QSCN6, Q6, SOx |
Description
QSOX1 encodes a sulfhydryl oxidase that catalyzes the formation of disulfide bonds in proteins, playing a critical role in oxidative protein folding in the endoplasmic reticulum and extracellular matrix. It is involved in redox homeostasis, cell proliferation, and migration. Overexpression is linked to tumor progression and fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, pancreatic, prostate) | Overexpression promotes tumor cell invasion and metastasis via ECM remodeling and redox signaling. | COSMIC, NCBI Gene |
| Pulmonary fibrosis | Increased QSOX1 activity contributes to extracellular matrix crosslinking and fibrotic progression. | NCBI Gene, UniProt |
| Liver fibrosis | Upregulation in hepatic stellate cells enhances collagen maturation. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Breast | 8.3 | Medium |
| Lung | 7.1 | Low |
| Prostate | 9.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| PANC-1 (pancreatic cancer) | 18.7 | High expression |
| HepG2 (liver cancer) | 11.2 | Medium expression |
| A549 (lung cancer) | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown functional impact |
| c.1546C>T (p.Arg516Trp) | Missense | <0.1% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in QSOX1.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function via increased disulfide bond formation.
Dominant Negative (DN)
Not described for QSOX1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein folding and processing in endoplasmic reticulum
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Redox regulation of integrin signaling
Protein Summary
QSOX1 is a 604-amino acid flavoprotein containing a thioredoxin domain and an ERV1-like sulfhydryl oxidase domain. It localizes to the endoplasmic reticulum and extracellular space, catalyzing disulfide bond formation in secreted and membrane proteins. Its activity is essential for proper folding of ECM components and is upregulated in various cancers, where it facilitates invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QSOX1 Knockout HEK293 Cell Line | EDJ-KQ5594 | Human | 5768 | Details Get a Quote |
| QSOX1 Knockout A-549 Cell Line | EDJ-KQ28862 | Human | 5768 | Details Get a Quote |
| QSOX1 Knockout HCT 116 Cell Line | EDJ-KQ28863 | Human | 5768 | Details Get a Quote |
| QSOX1 Knockout HeLa Cell Line | EDJ-KQ28864 | Human | 5768 | Details Get a Quote |
