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Aliases for ERO1A Gene

Aliases for ERO1A Gene

  • Endoplasmic Reticulum Oxidoreductase 1 Alpha 2 3 5
  • Endoplasmic Reticulum Oxidoreductase Alpha 3 4
  • Endoplasmic Oxidoreductin-1-Like Protein 3 4
  • Oxidoreductin-1-L-Alpha 3 4
  • ERO1-L-Alpha 3 4
  • ERO1-L 3 4
  • ERO1L 3 4
  • ERO1 (S. Cerevisiae)-Like 2
  • ERO1-Like (S. Cerevisiae) 2
  • ERO1-Like Protein Alpha 3
  • ERO1-Alpha 3
  • EC 1.8.4.- 4
  • Ero1alpha 3
  • EC 1.8.4 61
  • ERO1LA 3

External Ids for ERO1A Gene

Previous HGNC Symbols for ERO1A Gene

  • ERO1L

Summaries for ERO1A Gene

GeneCards Summary for ERO1A Gene

ERO1A (Endoplasmic Reticulum Oxidoreductase 1 Alpha) is a Protein Coding gene. Diseases associated with ERO1A include Cholera. Among its related pathways are Protein processing in endoplasmic reticulum and Metabolism of proteins. An important paralog of this gene is ERO1B.

UniProtKB/Swiss-Prot for ERO1A 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. 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.

Gene Wiki entry for ERO1A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERO1A Gene

Genomics for ERO1A Gene

Regulatory Elements for ERO1A Gene

Enhancers for ERO1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G052693 1 ENCODE 26.6 -0.4 -436 5.5 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 GLIS2 ZNF207 SP3 JUNB ERO1A STYX PSMC6
GH14G052917 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -223.2 -223158 3.7 PKNOX1 FEZF1 GATA2 ZSCAN5C FOS ETV6 CREM CEBPB OVOL3 JUNB ERO1A STYX LOC101927620 DDHD1 FERMT2 GC14P052872
GH14G052551 1.4 FANTOM5 ENCODE 7.2 +143.2 143163 3.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 TXNDC16 C14orf166 ERO1A GPR137C PTGDR
GH14G052740 0.9 Ensembl ENCODE 11 -46.4 -46392 3.4 PKNOX1 CEBPB ZBTB40 YY1 FOXA1 ARID3A GATA2 PBX2 ZBTB33 HNF4A STYX PSMC6 ERO1A ENSG00000259049
GH14G052457 1.3 Ensembl ENCODE 5.8 +237.6 237606 2.1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 FOS TSHZ1 MIER2 PPARG TXNDC16 PTGER2 ERO1A GC14M052143
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERO1A on UCSC Golden Path with GeneCards custom track

Promoters for ERO1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068448 731 2001 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 GLIS2 ZNF207 FOS SP3

Genomic Location for ERO1A Gene

Chromosome:
14
Start:
52,639,915 bp from pter
End:
52,695,931 bp from pter
Size:
56,017 bases
Orientation:
Minus strand

Genomic View for ERO1A Gene

Genes around ERO1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERO1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERO1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERO1A Gene

Proteins for ERO1A Gene

  • Protein details for ERO1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HE7-ERO1A_HUMAN
    Recommended name:
    ERO1-like protein alpha
    Protein Accession:
    Q96HE7
    Secondary Accessions:
    • A8K9X4
    • A8MYW1
    • Q7LD45
    • Q9P1Q9
    • Q9UKV6

    Protein attributes for ERO1A Gene

    Size:
    468 amino acids
    Molecular mass:
    54393 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Predominantly monomer. May function both as a monomer and a homodimer. Interacts with PDILT.

    Three dimensional structures from OCA and Proteopedia for ERO1A Gene

neXtProt entry for ERO1A Gene

Selected DME Specific Peptides for ERO1A Gene

Q96HE7:
  • YVDLLLNPER
  • LFNAFGRISTSV
  • TEFQQRFDG
  • FYRLISGLH
  • QCGRRDCAVKPC
  • NPERYTGY
  • HLSARYLL
  • IMDCVGC
  • IYEENCFKP
  • SKVLPFFER
  • WLEKKWGHN
  • PFFERPDFQLFTGNK
  • LTRQEIV
  • CDVETID
  • RISTSVKELENFR
  • DYFRYYKVNLKRPCPFW
  • EECEQAERLGAVDESLSEETQKAVLQWTKHDDSSD

Post-translational modifications for ERO1A Gene

  • N-glycosylated.
  • The Cys-94/Cys-99 and Cys-394/Cys-397 disulfide bonds constitute the redox-active center. The Cys-94/Cys-99 disulfide bond may accept electron from P4HB and funnel them to the active site disulfide Cys-394/Cys-397 (By similarity). The regulatory Cys-99/Cys-104 disulfide bond stabilizes the other regulatory bond Cys-94/Cys-131 (PubMed:23027870).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERO1A (ERO1L)
  • Abcam antibodies for ERO1A

Domains & Families for ERO1A Gene

Protein Domains for ERO1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERO1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HE7

UniProtKB/Swiss-Prot:

ERO1A_HUMAN :
  • Belongs to the EROs family.
Family:
  • Belongs to the EROs family.
genes like me logo Genes that share domains with ERO1A: view

No data available for Gene Families for ERO1A Gene

Function for ERO1A Gene

Molecular function for ERO1A Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is tightly regulated to prevent the accumulation of reactive oxygen species in the endoplasmic reticulum. Reversibly down-regulated by the formation of disulfide bonds between the active site Cys-94 and Cys-131, and between Cys-99 and Cys-104. Glutathione may be required to regulate its activity in the endoplasmic reticulum.
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. 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.
UniProtKB/Swiss-Prot Induction:
Stimulated by hypoxia; suggesting that it is regulated via the HIF-pathway.

Enzyme Numbers (IUBMB) for ERO1A Gene

Gene Ontology (GO) - Molecular Function for ERO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IEA,IBA --
GO:0005515 protein binding IPI 17170699
GO:0015035 protein disulfide oxidoreductase activity IBA,IEA --
GO:0015036 disulfide oxidoreductase activity TAS --
GO:0016491 oxidoreductase activity IEA,IDA 11707400
genes like me logo Genes that share ontologies with ERO1A: view
genes like me logo Genes that share phenotypes with ERO1A: view

Animal Model Products

CRISPR Products

miRNA for ERO1A Gene

miRTarBase miRNAs that target ERO1A

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERO1A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERO1A Gene

Localization for ERO1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERO1A Gene

Endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Note=The association with ERP44 is 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 ERO1A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
plasma membrane 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ERO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 10671517
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane IBA,IEA --
GO:0016020 membrane IDA,TAS 19946888
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with ERO1A: view

Pathways & Interactions for ERO1A Gene

genes like me logo Genes that share pathways with ERO1A: view

Pathways by source for ERO1A Gene

Gene Ontology (GO) - Biological Process for ERO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 10671517
GO:0006464 cellular protein modification process TAS 10671517
GO:0006915 apoptotic process IEA --
GO:0009266 response to temperature stimulus TAS 10671517
GO:0010260 animal organ senescence IEA --
genes like me logo Genes that share ontologies with ERO1A: view

No data available for SIGNOR curated interactions for ERO1A Gene

Drugs & Compounds for ERO1A Gene

(1) Drugs for ERO1A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
genes like me logo Genes that share compounds with ERO1A: view

Transcripts for ERO1A Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERO1A

Alternative Splicing Database (ASD) splice patterns (SP) for ERO1A Gene

No ASD Table

Relevant External Links for ERO1A Gene

GeneLoc Exon Structure for
ERO1A
ECgene alternative splicing isoforms for
ERO1A

Expression for ERO1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ERO1A Gene:

ERO1A

mRNA Expression by UniProt/SwissProt for ERO1A Gene:

Q96HE7-ERO1A_HUMAN
Tissue specificity: Widely expressed at low level. Expressed at high level in upper digestive tract. Highly expressed in esophagus. Weakly expressed in stomach and duodenum.

Evidence on tissue expression from TISSUES for ERO1A Gene

  • Eye(4.3)
  • Liver(4.3)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with ERO1A: view

Primer Products

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 ERO1A Gene

Orthologs for ERO1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERO1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERO1L 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia ERO1L 34 35
  • 93.45 (n)
dog
(Canis familiaris)
Mammalia ERO1L 34 35
  • 92.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ero1l 16 35 34
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Ero1l 34
  • 86.28 (n)
oppossum
(Monodelphis domestica)
Mammalia ERO1L 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERO1L 34 35
  • 73.23 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 78 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ero1lb 34
  • 71.26 (n)
zebrafish
(Danio rerio)
Actinopterygii ero1l 34 35
  • 66.02 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Ero1L 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ero-1 35
  • 36 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10241g 34
  • 51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERO1 34 35
  • 49.3 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL348W 34
  • 44.64 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ERO1 34
  • 51.98 (n)
rice
(Oryza sativa)
Liliopsida Os03g0733800 34
  • 54.34 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.1995 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ero12 34
  • 48.33 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02074 34
  • 44.98 (n)
Species where no ortholog for ERO1A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ERO1A Gene

ENSEMBL:
Gene Tree for ERO1A (if available)
TreeFam:
Gene Tree for ERO1A (if available)

Paralogs for ERO1A Gene

Paralogs for ERO1A Gene

Pseudogenes.org Pseudogenes for ERO1A Gene

genes like me logo Genes that share paralogs with ERO1A: view

Variants for ERO1A Gene

Sequence variations from dbSNP and Humsavar for ERO1A Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000020058 -- 52,662,897(+) AGATC(A/G)ATAGA intron-variant
rs1000113116 -- 52,689,332(+) GGTAT(A/C)CAAAT intron-variant
rs1000125724 -- 52,654,868(+) TCATG(C/G)CATGT intron-variant
rs1000128729 -- 52,669,421(+) AAATC(A/C)TTGTA intron-variant
rs1000138668 -- 52,697,280(+) ATGTG(G/T)TTTCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ERO1A Gene

Variant ID Type Subtype PubMed ID
nsv832796 CNV loss 17160897

Variation tolerance for ERO1A Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERO1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERO1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERO1A Gene

Disorders for ERO1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERO1A Gene - From: GeneCards

Disorder Aliases PubMed IDs
cholera
  • cholera - vibrio cholerae
- elite association - COSMIC cancer census association via MalaCards
Search ERO1A in MalaCards View complete list of genes associated with diseases

Relevant External Links for ERO1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERO1A
genes like me logo Genes that share disorders with ERO1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERO1A Gene

Publications for ERO1A Gene

  1. ERO1-L, a human protein that favors disulfide bond formation in the endoplasmic reticulum. (PMID: 10671517) Cabibbo A. … Sitia R. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. The cellular oxygen tension regulates expression of the endoplasmic oxidoreductase ERO1-Lalpha. (PMID: 12752442) Gess B. … Kurtz A. (Eur. J. Biochem. 2003) 3 4 22 64
  3. Hyperactivity of the Ero1I+ oxidase elicits endoplasmic reticulum stress but no broad antioxidant response. (PMID: 23027870) Hansen H.G. … Ellgaard L. (J. Biol. Chem. 2012) 3 4 64
  4. Crystal structures of human Ero1alpha reveal the mechanisms of regulated and targeted oxidation of PDI. (PMID: 20834232) Inaba K. … Suzuki M. (EMBO J. 2010) 3 4 64
  5. The Ero1alpha-PDI redox cycle regulates retro-translocation of cholera toxin. (PMID: 20130085) Moore P. … Tsai B. (Mol. Biol. Cell 2010) 3 22 64

Products for ERO1A Gene

  • Addgene plasmids for ERO1A

Sources for ERO1A Gene

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