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
  • ERO1-Like Protein Alpha 3 4
  • Oxidoreductin-1-L-Alpha 3 4
  • ERO1-L-Alpha 3 4
  • ERO1-Alpha 2 3
  • Ero1alpha 2 3
  • ERO1-L 3 4
  • ERO1L 3 4
  • ERO1 (S. Cerevisiae)-Like 2
  • ERO1-Like (S. Cerevisiae) 2
  • EC 1.8.4.- 4
  • EC 1.8.4 50
  • ERO1LA 3
  • ERO1A 5

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 Insulin receptor recycling and Protein processing in endoplasmic reticulum. An important paralog of this gene is ERO1B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ERO1A Gene

Genomics for ERO1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERO1A 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
GH14J052693 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 276.5 -0.5 -455 5.5 BCLAF1 ZNF207 IKZF1 ZNF600 CEBPA POLR2A ZBTB10 YY1 CTCF REST ERO1A STYX PSMC6 lnc-ERO1A-2
GH14J052551 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 7.2 +143.1 143099 4.4 SP1 ZNF207 MYC ZNF600 JUND ATF2 KLF9 POLR2A ZNF10 ATF3 TXNDC16 GPR137C NONHSAG014968.2 lnc-TXNDC16-2 RTRAF ERO1A PTGDR HSALNG0101295
GH14J052917 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -223.2 -223189 3.7 ZNF580 ZNF10 CEBPB FEZF1 PRDM1 FOXA2 RXRA TEAD3 ZNF843 BCL11B HSALNG0101310 lnc-FERMT2-2 ERO1A STYX DDHD1-DT DDHD1 piR-50443-113 FERMT2 LOC105370500 ENSG00000285664
GH14J052563 Enhancer 0.7 Ensembl 16.6 +132.6 132599 0.2 ZNF600 JUND ATF2 ZNF639 ZEB1 NFE2 PRDM10 HDAC2 ZFP37 ZBTB21 ERO1A GPR137C NONHSAG014968.2 piR-57133-151 HSALNG0101295
GH14J052740 Promoter/Enhancer 0.9 Ensembl ENCODE 11 -46.2 -46222 3 SPI1 ELF1 PKNOX1 ARID3A RUNX3 ZBTB40 RELB MLLT1 STYX PSMC6 ERO1A piR-57460-185 lnc-PSMC6-1 GNPNAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERO1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERO1A

Genomic Locations for ERO1A Gene

Latest Assembly
chr14:52,639,915-52,695,900
(GRCh38/hg38)
Size:
55,986 bases
Orientation:
Minus strand

Previous Assembly
chr14:53,106,633-53,162,276
(GRCh37/hg19 by Entrez Gene)
Size:
55,644 bases
Orientation:
Minus strand

chr14:53,106,634-53,162,618
(GRCh37/hg19 by Ensembl)
Size:
55,985 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).
  • Glycosylation at Asn280 and Asn384
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ERO1A_HUMAN (1225)

Domains & Families for ERO1A Gene

Gene Families for ERO1A Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ERO1A Gene

InterPro:

Suggested Antigen Peptide Sequences for ERO1A Gene

GenScript: Design optimal peptide antigens:
  • Oxidoreductin-1-L-alpha (ERO1A_HUMAN)

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

Function for ERO1A Gene

Molecular function for ERO1A 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. 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.
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.

Enzyme Numbers (IUBMB) for ERO1A Gene

Phenotypes From GWAS Catalog 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 21873635
GO:0005515 protein binding IPI 17170699
GO:0015035 protein disulfide oxidoreductase activity IEA,IBA 21873635
GO:0016491 oxidoreductase activity IEA,IDA 11707400
GO:0016671 oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor IEA --
genes like me logo Genes that share ontologies with ERO1A: view
genes like me logo Genes that share phenotypes with ERO1A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 2
peroxisome 1
endosome 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 IEA,IBA 21873635
GO:0016020 membrane IEA,HDA 19946888
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with ERO1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERO1A Gene

Pathways & Interactions for ERO1A Gene

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

Pathways by source for ERO1A Gene

1 Qiagen pathway for ERO1A Gene
  • Cholera Infection
1 Cell Signaling Technology pathway for ERO1A Gene

SIGNOR curated interactions for ERO1A Gene

Activates:

Gene Ontology (GO) - Biological Process for ERO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA,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

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

mRNA/cDNA for ERO1A Gene

14 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 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 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

Expression for ERO1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

  • Liver(4.5)
  • Eye(4.4)
  • Nervous system(3.2)
  • Pancreas(2.5)
  • Heart(2.3)
  • Intestine(2.3)
  • Stomach(2.2)
  • Bone marrow(2.2)
  • Skin(2.1)
  • Kidney(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with ERO1A: view

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 29 30
  • 99.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ERO1L 29 30
  • 93.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ERO1L 29 30
  • 92.88 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 91 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ero1l 29 30
  • 87.14 (n)
OneToOne
Ero1a 16
Rat
(Rattus norvegicus)
Mammalia Ero1l 29
  • 86.28 (n)
Oppossum
(Monodelphis domestica)
Mammalia ERO1L 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ERO1L 29 30
  • 73.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 78 (a)
OneToMany
-- 30
  • 73 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ero1lb 29
  • 71.26 (n)
Zebrafish
(Danio rerio)
Actinopterygii ero1l 29 30
  • 66.02 (n)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ero1L 30
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ero-1 30
  • 36 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10241g 29
  • 51 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERO1 29 30
  • 49.3 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL348W 29
  • 44.64 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ERO1 29
  • 51.98 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0733800 29
  • 54.34 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.1995 29
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ero12 29
  • 48.33 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02074 29
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ERO1A: view image
Alliance of Genome Resources:
Additional Orthologs for ERO1A

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERO1A Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs114268892 Benign: not provided 52,658,016(-) A/C
NM_014584.3(ERO1A):c.716-7T>G
INTRON
rs200092223 Benign: not provided 52,671,708(-) A/G
NM_014584.3(ERO1A):c.435-5T>C
INTRON
rs34558958 Benign: not provided 52,646,210(-) A/G
NM_014584.3(ERO1A):c.1290T>C (p.Ser430=)
SYNONYMOUS
rs62639686 Benign: not provided 52,658,149(-) C/T
NM_014584.3(ERO1A):c.690G>A (p.Glu230=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERO1A 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 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)

Additional Variant Information for ERO1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERO1A
Leiden Open Variation Database (LOVD)
ERO1A

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

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

Additional Disease Information for 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 (The Journal of biological chemistry 2000) 2 3 4 22
  2. The cellular oxygen tension regulates expression of the endoplasmic oxidoreductase ERO1-Lalpha. (PMID: 12752442) Gess B … Kurtz A (European journal of biochemistry 2003) 3 4 22
  3. Hyperactivity of the Ero1α oxidase elicits endoplasmic reticulum stress but no broad antioxidant response. (PMID: 23027870) Hansen HG … Ellgaard L (The Journal of biological chemistry 2012) 3 4
  4. The Ero1alpha-PDI redox cycle regulates retro-translocation of cholera toxin. (PMID: 20130085) Moore P … Tsai B (Molecular biology of the cell 2010) 3 22
  5. Crystal structures of human Ero1α reveal the mechanisms of regulated and targeted oxidation of PDI. (PMID: 20834232) Inaba K … Suzuki M (The EMBO journal 2010) 3 4

Products for ERO1A Gene

Sources for ERO1A Gene