ERO1A

endoplasmic reticulum oxidoreductase 1 alpha

Basic information

Region (hg38): 14:52639915-52695900

Previous symbols: [ "ERO1L" ]

Links

ENSG00000197930 ∙ NCBI:30001 ∙ OMIM:615435 ∙ HGNC:13280 ∙ Uniprot:Q96HE7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not_specified (39 variants)
• not_provided (4 variants)

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. These statistics are base on transcript: NM_000014584.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			39			39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	0	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERO1A	protein_coding	protein_coding	ENST00000395686	16	55985

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.809	0.191	125726	0	15	125741	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.30	169	224	0.756	0.0000105	3088
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000912	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000624	0.0000615
Middle Eastern	0.0000545	0.0000544
South Asian	0.000169	0.000163
Other	0.00	0.00

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

• 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_gene_trap: N

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