Aliases for ERO1B Gene

Aliases for ERO1B Gene

  • Endoplasmic Reticulum Oxidoreductase 1 Beta 2 3 5
  • Endoplasmic Reticulum Oxidoreductin-1-Like Protein B 3 4
  • Endoplasmic Reticulum Oxidoreductase Beta 3 4
  • ERO1-Like Protein Beta 3 4
  • Oxidoreductin-1-L-Beta 3 4
  • ERO1-L-Beta 3 4
  • Ero1beta 2 3
  • ERO1LB 3 4
  • Endoplasmic Oxidoreductin-1-Like Protein B 3
  • ERO1-Like Beta (S. Cerevisiae) 2
  • ERO1-Like Beta 3
  • ERO1-L(Beta) 2
  • EC 1.8.4.- 4
  • EC 1.8.4 50
  • ERO1B 5

External Ids for ERO1B Gene

Previous HGNC Symbols for ERO1B Gene

  • ERO1LB

Summaries for ERO1B Gene

GeneCards Summary for ERO1B Gene

ERO1B (Endoplasmic Reticulum Oxidoreductase 1 Beta) is a Protein Coding gene. Diseases associated with ERO1B include Hypoascorbemia and Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus. Among its related pathways are Protein processing in endoplasmic reticulum and Peptide hormone metabolism. An important paralog of this gene is ERO1A.

UniProtKB/Swiss-Prot Summary for ERO1B Gene

  • 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. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis.

Gene Wiki entry for ERO1B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERO1B Gene

Genomics for ERO1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERO1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J236280 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 265.7 +0.4 382 2.8 SP1 ZNF600 MYC SIX5 ZNF580 ZNF592 POLR2A ZNF10 NFIC ZIC2 ERO1B ARID4B ENSG00000273058 ENSG00000230325 GGPS1 RF00004-011 RNU2-70P GPR137B
GH01J236470 Enhancer 1.1 Ensembl dbSUPER 10.2 -190.3 -190318 1.8 ZNF600 ZNF580 ATF2 ZNF10 ZSCAN16 ZIC2 FEZF1 ZNF639 ZNF341 ZEB1 LGALS8 LGALS8-AS1 ENSG00000273058 ENSG00000230325 GPR137B ERO1B ENO1P1 RF00994-104 EDARADD HSALNG0011770
GH01J236222 Enhancer 0.3 Ensembl 21.7 +58.4 58383 2 CEBPB ZNF121 ERO1B RNU2-70P HSALNG0011759 HSALNG0011762 GPR137B
GH01J236288 Enhancer 0.9 Ensembl ENCODE 7.9 -6.5 -6452 1.3 ZNF600 IKZF1 POLR2A NONO SMAD5 TBP ARNT TAF9B ZNF316 PRDM10 ENSG00000237922 LOC100130485 lnc-EDARADD-4 lnc-ERO1B-1 GPR137B ERO1B SNODB495 EDARADD
GH01J236302 Enhancer 0.8 Ensembl ENCODE 8.2 -20.2 -20218 0.4 ZNF341 MAFF ZNF316 ZFP37 ZNF398 MAFK PRDM10 ZFHX2 ZNF335 SCRT2 SNODB495 ERO1B HSALNG0011767 EDARADD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERO1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERO1B

Genomic Locations for ERO1B Gene

Latest Assembly
chr1:236,213,064-236,281,983
(GRCh38/hg38)
Size:
68,920 bases
Orientation:
Minus strand

Previous Assembly
chr1:236,378,401-236,445,258
(GRCh37/hg19 by Entrez Gene)
Size:
66,858 bases
Orientation:
Minus strand

chr1:236,378,855-236,445,319
(GRCh37/hg19 by Ensembl)
Size:
66,465 bases
Orientation:
Minus strand

Genomic View for ERO1B Gene

Genes around ERO1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERO1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERO1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERO1B Gene

Proteins for ERO1B Gene

  • Protein details for ERO1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YB8-ERO1B_HUMAN
    Recommended name:
    ERO1-like protein beta
    Protein Accession:
    Q86YB8
    Secondary Accessions:
    • B4DF57
    • Q5T1H4
    • Q8IZ11
    • Q9NR62

    Protein attributes for ERO1B Gene

    Size:
    467 amino acids
    Molecular mass:
    53543 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer; disulfide-linked. Heterodimer with ERO1A; disulfide-linked. Also detected as monomer. Homodimers may be somewhat less active than monomers. Interacts with P4HB. Interacts with ERP44.

    Alternative splice isoforms for ERO1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERO1B Gene

Selected DME Specific Peptides for ERO1B Gene

Q86YB8:
  • YVDLLLNPER
  • CLEKRVFY
  • NPERYTGY
  • IMDCVGC
  • IYEENCFKP
  • LTRQEIV
  • DYFRYYKVNLKRPCPFW

Post-translational modifications for ERO1B Gene

  • N-glycosylated.
  • The Cys-90/Cys-95 and Cys-393/Cys-396 disulfide bonds constitute the redox-active center. The Cys-90/Cys-95 disulfide bond accepts electron from P4HB and funnel them to the active site disulfide Cys-393/Cys-396. The Cys-81/Cys-390 disulfide bond may be critical for structural stability. Two long-range disulfide bonds participate in loose feedback regulation. The Cys-90/Cys-130 disulfide bond may be the predominant regulatory switch to modulate the catalytic activity, while the Cys-100/Cys-262 disulfide bond may play an auxiliary regulatory role.
  • Glycosylation at Asn122, Asn140, Asn145, and Asn383
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ERO1B_HUMAN (1226)

Other Protein References for ERO1B Gene

Domains & Families for ERO1B Gene

Gene Families for ERO1B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ERO1B Gene

InterPro:

Suggested Antigen Peptide Sequences for ERO1B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56569, highly similar to ERO1-like protein beta (EC 1.8.4.-) (B4DF57_HUMAN)
  • Oxidoreductin-1-L-beta (ERO1B_HUMAN)
  • ERO1-like beta (S. cerevisiae) (Q5TAE8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86YB8

UniProtKB/Swiss-Prot:

ERO1B_HUMAN :
  • Belongs to the EROs family.
Family:
  • Belongs to the EROs family.
genes like me logo Genes that share domains with ERO1B: view

Function for ERO1B Gene

Molecular function for ERO1B Gene

UniProtKB/Swiss-Prot 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. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by inducers of the unfolded protein response (UPR).
UniProtKB/Swiss-Prot EnzymeRegulation:
Glutathione may be required to regulate its activity in the endoplasmic reticulum.

Enzyme Numbers (IUBMB) for ERO1B Gene

Phenotypes From GWAS Catalog for ERO1B Gene

Gene Ontology (GO) - Molecular Function for ERO1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 20802462
GO:0015035 protein disulfide oxidoreductase activity IBA 21873635
GO:0016491 oxidoreductase activity NAS 10818100
GO:0016671 oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor IEA --
genes like me logo Genes that share ontologies with ERO1B: view
genes like me logo Genes that share phenotypes with ERO1B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERO1B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERO1B Gene

Localization for ERO1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERO1B Gene

Endoplasmic reticulum membrane. Peripheral membrane protein. Lumenal side. Note=The association with ERP44 may be essential for its retention in the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERO1B gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ERO1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,TAS 10818100
GO:0005789 endoplasmic reticulum membrane IEA,IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ERO1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERO1B Gene

Pathways & Interactions for ERO1B Gene

genes like me logo Genes that share pathways with ERO1B: view

Pathways by source for ERO1B Gene

SIGNOR curated interactions for ERO1B Gene

Activates:

Gene Ontology (GO) - Biological Process for ERO1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 10818100
GO:0018215 protein phosphopantetheinylation IEA --
GO:0034975 protein folding in endoplasmic reticulum IBA,IDA 21091435
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ERO1B: view

Drugs & Compounds for ERO1B Gene

(2) Drugs for ERO1B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
1-Ethyl-Pyrrolidine-2,5-Dione Experimental Pharma Target 0
genes like me logo Genes that share compounds with ERO1B: view

Transcripts for ERO1B Gene

mRNA/cDNA for ERO1B Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERO1B

Alternative Splicing Database (ASD) splice patterns (SP) for ERO1B Gene

No ASD Table

Relevant External Links for ERO1B Gene

GeneLoc Exon Structure for
ERO1B

Expression for ERO1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERO1B

mRNA Expression by UniProt/SwissProt for ERO1B Gene:

Q86YB8-ERO1B_HUMAN
Tissue specificity: Highly expressed in the digestive tract, including the duodenum and lower digestive tract. In the stomach, highly expressed in enzyme-producing chief cells (at protein level). In the pancreas, expressed in islets of Langerhans and, at lower levels, in enzyme-secreting cells (at protein level). Detected at low level in many other tissues.

Evidence on tissue expression from TISSUES for ERO1B Gene

  • Nervous system(4.3)
  • Blood(4.3)
  • Pancreas(4.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ERO1B: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERO1B Gene

Orthologs for ERO1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERO1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERO1LB 29 30
  • 99 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERO1LB 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ERO1LB 29 30
  • 93.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ERO1LB 29 30
  • 93.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ERO1LB 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ero1lb 29 30
  • 87.01 (n)
OneToOne
Ero1b 16
Rat
(Rattus norvegicus)
Mammalia Ero1lb 29
  • 86.04 (n)
Chicken
(Gallus gallus)
Aves ERO1LB 29 30
  • 81.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ERO1LB 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ero1l 29
  • 77.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii ero1lb 29 30
  • 70.62 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002816 29
  • 54.83 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ero1L 29 30
  • 53.83 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ero-1 29 30
  • 53.46 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERO1 30 32
  • 23 (a)
OneToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.2978 29
Species where no ortholog for ERO1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ERO1B Gene

ENSEMBL:
Gene Tree for ERO1B (if available)
TreeFam:
Gene Tree for ERO1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERO1B: view image
Alliance of Genome Resources:
Additional Orthologs for ERO1B

Paralogs for ERO1B Gene

Paralogs for ERO1B Gene

genes like me logo Genes that share paralogs with ERO1B: view

Variants for ERO1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERO1B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs61736438 Benign: not provided 236,218,524(-) T/C
NM_019891.4(ERO1B):c.1396A>G (p.Ser466Gly)
MISSENSE
rs1055851 -- p.His465Gln
rs2477599 -- p.Asp129Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERO1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ERO1B Gene

Variant ID Type Subtype PubMed ID
dgv156e212 CNV loss 25503493
dgv590n100 CNV gain 25217958
esv1064239 CNV insertion 17803354
esv3578490 CNV loss 25503493
nsv1005877 CNV gain 25217958
nsv1012436 CNV loss 25217958
nsv1122461 CNV deletion 24896259
nsv468450 CNV gain 19166990
nsv522991 CNV loss 19592680
nsv549394 CNV gain 21841781
nsv549400 CNV gain 21841781
nsv827487 CNV loss 20364138
nsv832969 CNV gain 17160897

Variation tolerance for ERO1B Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.56; 93.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERO1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERO1B
Leiden Open Variation Database (LOVD)
ERO1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERO1B Gene

Disorders for ERO1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERO1B Gene - From: COP

Disorder Aliases PubMed IDs
hypoascorbemia
  • scurvy
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
  • med-iddm syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERO1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ERO1B

genes like me logo Genes that share disorders with ERO1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERO1B Gene

Publications for ERO1B Gene

  1. Endoplasmic reticulum oxidoreductin 1-lbeta (ERO1-Lbeta), a human gene induced in the course of the unfolded protein response. (PMID: 10818100) Pagani M … Sitia R (The Journal of biological chemistry 2000) 2 3 4 22
  2. The endoplasmic reticulum sulfhydryl oxidase Ero1β drives efficient oxidative protein folding with loose regulation. (PMID: 21091435) Wang L … Wang CC (The Biochemical journal 2011) 2 3 4
  3. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PMID: 16263699) Lewandrowski U … Sickmann A (Molecular & cellular proteomics : MCP 2006) 3 4
  4. Tissue-specific expression and dimerization of the endoplasmic reticulum oxidoreductase Ero1beta. (PMID: 16012172) Dias-Gunasekara S … Benham AM (The Journal of biological chemistry 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ERO1B Gene

Sources for ERO1B Gene