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    ERO1A endoplasmic reticulum oxidoreductase 1 alpha [ Homo sapiens (human) ]

    Gene ID: 30001, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ERO1Aprovided by HGNC
    Official Full Name
    endoplasmic reticulum oxidoreductase 1 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:13280
    See related
    Ensembl:ENSG00000197930 MIM:615435; AllianceGenome:HGNC:13280
    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
    ERO1L; ERO1-L; ERO1LA; Ero1alpha; ERO1-alpha; ERO1-L-alpha
    Summary
    Enables oxidoreductase activity. Involved in cell redox homeostasis and chaperone cofactor-dependent protein refolding. Located in Golgi lumen; endoplasmic reticulum; and extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in esophagus (RPKM 69.5), placenta (RPKM 19.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERO1A in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (52639915..52695558, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (46847757..46903365, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53106633..53162276, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene thioredoxin domain containing 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5745 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53034445-53035160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53035161-53035876 Neighboring gene G protein-coupled receptor 137C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:53062685-53063186 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:53130319-53130927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:53161801-53162302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5748 Neighboring gene Sharpr-MPRA regulatory region 400 Neighboring gene proteasome 26S subunit, ATPase 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:53218646-53218797 Neighboring gene serine/threonine/tyrosine interacting protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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?
    1. SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
      Title: SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
    2. Biological mechanisms and clinical significance of endoplasmic reticulum oxidoreductase 1 alpha (ERO1alpha) in human cancer.
      Title: Biological mechanisms and clinical significance of endoplasmic reticulum oxidoreductase 1 alpha (ERO1α) in human cancer.
    3. ERO1alpha promotes the proliferation and inhibits apoptosis of colorectal cancer cells by regulating the PI3K/AKT pathway.
      Title: ERO1α promotes the proliferation and inhibits apoptosis of colorectal cancer cells by regulating the PI3K/AKT pathway.
    4. Ablation of ERO1A induces lethal endoplasmic reticulum stress responses and immunogenic cell death to activate anti-tumor immunity.
      Title: Ablation of ERO1A induces lethal endoplasmic reticulum stress responses and immunogenic cell death to activate anti-tumor immunity.
    5. ERO1alpha primes the ryanodine receptor to respond to arsenite with concentration dependent Ca[2+] release sequentially triggering two different mechanisms of ROS formation.
      Title: ERO1α primes the ryanodine receptor to respond to arsenite with concentration dependent Ca(2+) release sequentially triggering two different mechanisms of ROS formation.
    6. Endoplasmic reticulum oxidoreductin 1-alpha deficiency and activation of protein translation synergistically impair breast tumour resilience.
      Title: Endoplasmic reticulum oxidoreductin 1-alpha deficiency and activation of protein translation synergistically impair breast tumour resilience.
    7. ERO1 alpha deficiency impairs angiogenesis by increasing N-glycosylation of a proangiogenic VEGFA.
      Title: ERO1 alpha deficiency impairs angiogenesis by increasing N-glycosylation of a proangiogenic VEGFA.
    8. ERO1L promotes the proliferation and metastasis of lung adenocarcinoma via the Wnt2/beta-catenin signaling pathway.
      Title: ERO1L promotes the proliferation and metastasis of lung adenocarcinoma via the Wnt2/β-catenin signaling pathway.
    9. Crosstalk between ERO1alpha and ryanodine receptor in arsenite-dependent mitochondrial ROS formation.
      Title: Crosstalk between ERO1α and ryanodine receptor in arsenite-dependent mitochondrial ROS formation.
    10. ERO1-PDI Redox Signaling in Health and Disease.
      Title: ERO1-PDI Redox Signaling in Health and Disease.
    Submit: New GeneRIF Correction See all GeneRIFs (66)

    Phenotypes

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    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with GPX7; predicted interaction to be within the endoplasmic reticulum and function as a reductase PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-disulfide reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thiol oxidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-ascorbic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brown fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell redox homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chaperone cofactor-dependent protein refolding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein folding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation by protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to temperature stimulus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    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
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    ERO1-like protein alpha
    Names
    endoplasmic oxidoreductin-1-like protein
    endoplasmic reticulum oxidoreductase alpha
    oxidoreductin-1-L-alpha
    NP_001369393.1
    NP_001369394.1
    NP_001369395.1
    NP_001369396.1
    NP_001369397.1
    NP_001369398.1
    NP_001369399.1
    NP_001369400.1
    NP_001369401.1
    NP_001369402.1
    NP_001369403.1
    NP_001369404.1
    NP_001369405.1
    NP_055399.1

    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.

    mRNA and Protein(s)

    1. NM_001382464.1 → NP_001369393.1  ERO1-like protein alpha isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 468
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    2. NM_001382465.1 → NP_001369394.1  ERO1-like protein alpha isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 451
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    3. NM_001382466.1 → NP_001369395.1  ERO1-like protein alpha isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 451
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    4. NM_001382467.1 → NP_001369396.1  ERO1-like protein alpha isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 446
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    5. NM_001382468.1 → NP_001369397.1  ERO1-like protein alpha isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 442
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    6. NM_001382469.1 → NP_001369398.1  ERO1-like protein alpha isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 438
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    7. NM_001382470.1 → NP_001369399.1  ERO1-like protein alpha isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 430
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    8. NM_001382471.1 → NP_001369400.1  ERO1-like protein alpha isoform 9 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:50 → 426
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    9. NM_001382472.1 → NP_001369401.1  ERO1-like protein alpha isoform 10 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:42 → 418
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    10. NM_001382473.1 → NP_001369402.1  ERO1-like protein alpha isoform 11 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 415
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    11. NM_001382474.1 → NP_001369403.1  ERO1-like protein alpha isoform 12 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 387
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    12. NM_001382475.1 → NP_001369404.1  ERO1-like protein alpha isoform 13 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 375
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    13. NM_001382476.1 → NP_001369405.1  ERO1-like protein alpha isoform 14 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 370
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    14. NM_014584.3 → NP_055399.1  ERO1-like protein alpha isoform 2 precursor

      See identical proteins and their annotated locations for NP_055399.1

      Status: VALIDATED

      Source sequence(s)
      AL133453, BC012941
      Consensus CDS
      CCDS9709.1
      UniProtKB/Swiss-Prot
      A8K9X4, A8MYW1, Q7LD45, Q96HE7, Q9P1Q9, Q9UKV6
      Related
      ENSP00000379042.3, ENST00000395686.8
      Conserved Domains (1) summary
      pfam04137
      Location:60 → 455
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      52639915..52695558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      46847757..46903365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HE7.2 GenPept UniProtKB/Swiss-Prot:Q96HE7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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