ERO1B endoplasmic reticulum oxidoreductase 1 beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERO1Bprovided by HGNC
Official Full Name: endoplasmic reticulum oxidoreductase 1 betaprovided by HGNC
Primary source: HGNC:HGNC:14355
See related: Ensembl:ENSG00000086619 MIM:615437; AllianceGenome:HGNC:14355
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ERO1LB; Ero1beta
Summary: Enables protein-disulfide reductase activity and thiol oxidase activity. Involved in protein folding in endoplasmic reticulum. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum lumen and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in stomach (RPKM 19.2), thyroid (RPKM 16.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (236215101..236281958, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (235617345..235684232, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (236378401..236445258, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pharmacologic inhibition or knock-down of downstream targets of ATF6a, protein disulfide isomerases (PDI) and ERO1b, a thiol oxidase that is involved in the re-oxidation of PDIs also independently induced pronounced killing of osteosarcoma (OS) cells following chemotherapy.
Title: ATF6α Activation Enhances Survival against Chemotherapy and Serves as a Prognostic Indicator in Osteosarcoma.
This peptide, Ac-VDTTD-AFC, was efficiently cleaved by purified caspase-2 and auto-activating caspase-2 in mammalian cells, and exhibited better selectivity for caspase-2 relative to caspase-3 than reagents that are currently available.
Title: Biochemical evidence that regulation of Ero1β activity in human cells does not involve the isoform-specific cysteine 262.
GJB2 and ERO1LB are implicated in pancreatic cancer progression and can be used to predict patient survival
Title: Genome-scale analysis identifies GJB2 and ERO1LB as prognosis markers in patients with pancreatic cancer.
upregulated in pancreatic neuroendocrine tumors
Title: The Immunohistochemical Evaluation of Solid Pseudopapillary Tumors of the Pancreas and Pancreatic Neuroendocrine Tumors Reveals ERO1Lβ as a New Biomarker.
In the present work, it was shown that recombinant human Ero1beta is twice as active as Ero1alpha in enzymatic assays.
Title: The endoplasmic reticulum sulfhydryl oxidase Ero1β drives efficient oxidative protein folding with loose regulation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The lack of correlation between changes in SAT adiponectin gene and protein expression and its circulating levels suggests that adipose tissue synthesis and release of adiponectin are highly regulated pathways.
Title: Response of adiponectin and its receptors to changes in metabolic state after gastric bypass surgery: dissociation between adipose tissue expression and circulating levels.
Observational study of gene-disease association. (HuGE Navigator)
Title: The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
analysis of Ero1beta tissue distribution and dimerization
Title: Tissue-specific expression and dimerization of the endoplasmic reticulum oxidoreductase Ero1beta.
glutathione limits Ero1-dependent oxidation in the endoplasmic reticulum
Title: Glutathione limits Ero1-dependent oxidation in the endoplasmic reticulum.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31075 (e-PCR)
- UniSTS:74758

AL033832 (e-PCR)
- UniSTS:93708

SHGC-76542 (e-PCR)
- UniSTS:79399

SHGC-153442 (e-PCR)
- UniSTS:177751

SHGC-76552 (e-PCR)
- UniSTS:64638

PMC150226P1 (e-PCR)
- UniSTS:271054

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase activity	EXP Inferred from Experiment more info	PubMed
enables protein-disulfide reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thiol oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in insulin processing	TAS Traceable Author Statement more info
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein folding in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ERO1-like protein beta

Names: ERO1-L-beta; ERO1-like beta; endoplasmic oxidoreductin-1-like protein B; endoplasmic reticulum oxidoreductase beta; endoplasmic reticulum oxidoreductin-1-like protein B; oxidoreductin-1-L-beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.