ERO1A
protein-codingendoplasmic reticulum oxidoreductase 1 alpha
Gene summary
Enables thiol oxidase activity. Involved in cell redox homeostasis and protein folding. Located in Golgi lumen; endoplasmic reticulum; and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]
- ERO1L
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~56.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ERO1A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014584.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 2 | 3 | |||
| missense | 44 | 44 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 6 | 6 | ||||
| Total | 0 | 0 | 51 | 0 | 2 | 53 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055399.1 | 16 | MANE Select | |
| Ensembl | ENSP00000379042.3 | 16 | MANE Select | |
| RefSeq | NP_001369393.1 | 17 | Standard | |
| RefSeq | NP_001369394.1 | 15 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Protein processing in endoplasmic reticulum - Homo sapiens (human)
- Vibrio cholerae infection - Homo sapiens (human)
- Detoxification of Reactive Oxygen Species
- Peptide hormone metabolism
- Cellular responses to stress
Biological Process
- protein folding
- cellular protein modification process
- response to temperature stimulus
- animal organ senescence
- 4-hydroxyproline metabolic process
Molecular Function
- protein disulfide isomerase activity
- protein binding
- protein disulfide oxidoreductase activity
- disulfide oxidoreductase activity
- oxidoreductase activity
Cellular Component
- endoplasmic reticulum
- endoplasmic reticulum lumen
- endoplasmic reticulum membrane
- membrane
- dendrite
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000395686
- Coding exons
- 16
- Length
- 55985
- Individuals with no LoFs
- 125726
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 15
- Defined
- 125741
- p
- 0.0000596
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.30 | 169 | 224 | 0.756 | 0.0000105 | 3088 |
| Missense (PolyPhen) | 67 | 101.28 | 0.66153 | 1343 | ||
| Synonymous | 0.629 | 70 | 77.0 | 0.909 | 0.00000378 | 795 |
| Loss of Function | 4.25 | 6 | 31.9 | 0.188 | 0.00000160 | 401 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000055 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000062 | 0.000062 | rare |
| South Asian | 0.00017 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin. Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. {ECO:0000269|PubMed:10671517, ECO:0000269|PubMed:10970843, ECO:0000269|PubMed:11707400, ECO:0000269|PubMed:12403808, ECO:0000269|PubMed:18833192, ECO:0000269|PubMed:18971943, ECO:0000269|PubMed:23027870}.;
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- RVIS EVS
- -0.4
- RVIS percentile EVS
- 26.53
Essentials
- Essential (gene trap)
- N