ERO1B
Endoplasmic Reticulum Oxidoreductase 1 Beta
Gene Information Card
| Symbol | ERO1B |
|---|---|
| Full Name | Endoplasmic Reticulum Oxidoreductase 1 Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 56605 ncbi.nlm.nih.gov/gene/56605 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q86YB8 |
| OMIM ID | 615437 |
| HGNC ID | 24980 |
| Aliases | ERO1-beta, ERO1LB, FLJ10404 |
Description
ERO1B encodes an endoplasmic reticulum (ER) oxidoreductase that introduces disulfide bonds into nascent proteins in the ER lumen. It is a paralog of ERO1A and is involved in oxidative protein folding, ER stress response, and redox homeostasis. ERO1B is induced by the unfolded protein response (UPR) and plays a role in the production of reactive oxygen species (ROS) during disulfide bond formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | ERO1B overexpression may promote tumor growth by enhancing protein folding and reducing ER stress, leading to increased cell survival. | COSMIC; literature |
| Diabetes | Altered ERO1B expression in pancreatic beta cells may affect insulin folding and secretion, contributing to beta-cell dysfunction. | UniProt; literature |
| Neurodegenerative disorders | Dysregulation of ERO1B may contribute to ER stress and protein misfolding in neurons. | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Testis | 4.2 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| HepG2 | 9.1 | Medium expression |
| K562 | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted to affect translation initiation |
| c.100C>T (p.Arg34Cys) | missense | <0.01% | May alter disulfide bond formation; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • oxidoreductase activity | • acting on a sulfur group of donors |
| • disulfide as acceptor | • protein disulfide isomerase activity |
| • endoplasmic reticulum lumen | • protein folding in endoplasmic reticulum |
| • response to endoplasmic reticulum stress | • cell redox homeostasis |
Pathways
• Unfolded Protein Response (UPR)
• Endoplasmic Reticulum Protein Processing
• Disulfide Bond Formation
Protein Summary
ERO1B is a 468-amino acid protein localized to the endoplasmic reticulum lumen. It contains a flavin adenine dinucleotide (FAD)-binding domain and a thioredoxin-like domain. The enzyme reoxidizes protein disulfide isomerase (PDI) to facilitate disulfide bond formation in newly synthesized proteins, generating hydrogen peroxide as a byproduct. ERO1B is transcriptionally regulated by the UPR and is essential for efficient oxidative protein folding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERO1B Knockout HEK293 Cell Line | EDJ-KQ13323 | Human | 56605 | Details Get a Quote |
| ERO1B Knockout A-549 Cell Line | EDJ-KQ42792 | Human | 56605 | Details Get a Quote |
| ERO1B Knockout HCT 116 Cell Line | EDJ-KQ42793 | Human | 56605 | Details Get a Quote |
| ERO1B Knockout HeLa Cell Line | EDJ-KQ56741 | Human | 56605 | Details Get a Quote |
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