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

    Gene ID: 30001, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in esophagus (RPKM 69.5), placenta (RPKM 19.1) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001382464.1NP_001369393.1  ERO1-like protein alpha isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60468
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    2. NM_001382465.1NP_001369394.1  ERO1-like protein alpha isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60451
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    3. NM_001382466.1NP_001369395.1  ERO1-like protein alpha isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60451
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    4. NM_001382467.1NP_001369396.1  ERO1-like protein alpha isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60446
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    5. NM_001382468.1NP_001369397.1  ERO1-like protein alpha isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60442
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    6. NM_001382469.1NP_001369398.1  ERO1-like protein alpha isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60438
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    7. NM_001382470.1NP_001369399.1  ERO1-like protein alpha isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60430
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    8. NM_001382471.1NP_001369400.1  ERO1-like protein alpha isoform 9 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:50426
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    9. NM_001382472.1NP_001369401.1  ERO1-like protein alpha isoform 10 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:42418
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    10. NM_001382473.1NP_001369402.1  ERO1-like protein alpha isoform 11 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60415
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    11. NM_001382474.1NP_001369403.1  ERO1-like protein alpha isoform 12 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60387
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    12. NM_001382475.1NP_001369404.1  ERO1-like protein alpha isoform 13 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60375
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    13. NM_001382476.1NP_001369405.1  ERO1-like protein alpha isoform 14 precursor

      Status: VALIDATED

      Source sequence(s)
      AL133453
      Conserved Domains (1) summary
      pfam04137
      Location:60370
      ERO1; Endoplasmic Reticulum Oxidoreductin 1 (ERO1)
    14. NM_014584.3NP_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:60455
      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)