ERO1A

endoplasmic reticulum oxidoreductase 1 alpha

Basic information

Region (hg38): 14:52639915-52695900

Previous symbols: [ "ERO1L" ]

Links

ENSG00000197930NCBI:30001OMIM:615435HGNC:13280Uniprot:Q96HE7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERO1A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERO1A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
14
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
3
3
non coding
0
Total 0 0 14 0 1

Variants in ERO1A

This is a list of pathogenic ClinVar variants found in the ERO1A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
14-52646210-A-G Benign (Jun 06, 2018)776840
14-52646243-T-G not specified Uncertain significance (Jan 08, 2024)3090340
14-52646418-T-C not specified Uncertain significance (Jun 21, 2023)2599136
14-52652285-T-C not specified Uncertain significance (Jun 23, 2023)2591904
14-52653116-C-A not specified Uncertain significance (Feb 28, 2023)2461973
14-52653146-A-T not specified Uncertain significance (Jun 02, 2024)3276414
14-52653153-C-A not specified Uncertain significance (Jul 05, 2023)2589282
14-52653184-C-T not specified Uncertain significance (Jun 13, 2022)2295391
14-52653255-C-A not specified Uncertain significance (Jul 12, 2022)2258106
14-52658007-G-C not specified Uncertain significance (Jul 12, 2022)2300549
14-52658016-A-C Benign (Aug 04, 2017)716384
14-52658149-C-T Benign (Aug 04, 2017)716385
14-52663830-C-G not specified Uncertain significance (Feb 10, 2022)2276246
14-52666490-G-C not specified Uncertain significance (Aug 26, 2022)2400054
14-52671708-A-G Benign (Aug 04, 2017)716386
14-52671846-A-G not specified Uncertain significance (Nov 22, 2023)3090341
14-52678444-G-A not specified Uncertain significance (May 10, 2024)3276413
14-52695383-C-G not specified Uncertain significance (Nov 08, 2022)2323015
14-52695390-G-C not specified Uncertain significance (Dec 06, 2022)2357077
14-52695433-G-C not specified Uncertain significance (May 08, 2024)3276415
14-52695472-C-T not specified Uncertain significance (Nov 03, 2022)2322085

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ERO1Aprotein_codingprotein_codingENST00000395686 1655985
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8090.1911257260151257410.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.301692240.7560.00001053088
Missense in Polyphen67101.280.661531343
Synonymous0.6297077.00.9090.00000378795
Loss of Function4.25631.90.1880.00000160401

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009120.0000905
Ashkenazi Jewish0.000.00
East Asian0.00005450.0000544
Finnish0.000.00
European (Non-Finnish)0.00006240.0000615
Middle Eastern0.00005450.0000544
South Asian0.0001690.000163
Other0.000.00

dbNSFP

Source: dbNSFP

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}.;
Pathway
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;Metabolism of proteins;Cellular responses to external stimuli;Insulin processing (Consensus)

Recessive Scores

pRec
0.129

Intolerance Scores

loftool
rvis_EVS
-0.4
rvis_percentile_EVS
26.53

Haploinsufficiency Scores

pHI
0.243
hipred
Y
hipred_score
0.540
ghis
0.470

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Ero1l
Phenotype
hematopoietic system phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
protein folding;cellular protein modification process;response to temperature stimulus;animal organ senescence;4-hydroxyproline metabolic process;protein maturation by protein folding;extracellular matrix organization;endoplasmic reticulum unfolded protein response;cellular response to oxidative stress;protein folding in endoplasmic reticulum;response to endoplasmic reticulum stress;cell redox homeostasis;brown fat cell differentiation;chaperone cofactor-dependent protein refolding;release of sequestered calcium ion into cytosol;oxidation-reduction process;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;cellular response to hypoxia
Cellular component
endoplasmic reticulum;endoplasmic reticulum lumen;endoplasmic reticulum membrane;membrane;dendrite;intracellular membrane-bounded organelle
Molecular function
protein disulfide isomerase activity;protein binding;protein disulfide oxidoreductase activity;disulfide oxidoreductase activity;oxidoreductase activity;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor