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        "title": "The cellular oxygen tension regulates expression of the endoplasmic oxidoreductase ERO1-Lalpha.",
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    {
        "title": "Thiol-mediated protein retention in the endoplasmic reticulum: the role of ERp44.",
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    {
        "title": "Two conserved cysteine triads in human Ero1alpha cooperate for efficient disulfide bond formation in the endoplasmic reticulum.",
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                "start_pos": 104,
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                "sequence_org": "C",
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                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
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                    {
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                    {
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                ],
                "uniprot_canonical_ac": "Q96HE7-1"
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            {
                "start_pos": 241,
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                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
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                    {
                        "database": "PubMed",
                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
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                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 241,
                "end_pos": 241,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
                    },
                    {
                        "database": "PubMed",
                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
                    }
                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 280,
                "end_pos": 280,
                "sequence_org": "N",
                "sequence_mut": "A",
                "comment": "No effect on activity.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
                    }
                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "N",
                "sequence_mut": "A",
                "comment": "No effect on activity.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
                    }
                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 391,
                "end_pos": 391,
                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "Alters protein folding. Prevents formation of regulatory disulfide bond and down-regulation of activity. Decreases association with P4HB.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "10671517",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10671517"
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/10970843"
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                    {
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                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
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                "uniprot_canonical_ac": "Q96HE7-1"
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            {
                "start_pos": 394,
                "end_pos": 394,
                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "Retains activity towards P4HB. Does not act as a dominant negative mutant. Induces defects in folding. Remains associated with P4HB.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "11707400",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11707400"
                    },
                    {
                        "database": "PubMed",
                        "id": "10671517",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10671517"
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                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/18833192"
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                    {
                        "database": "PubMed",
                        "id": "10970843",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10970843"
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                    {
                        "database": "PubMed",
                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
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                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 397,
                "end_pos": 397,
                "sequence_org": "C",
                "sequence_mut": "A",
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                "evidence": [
                    {
                        "database": "UniProtKB",
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                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
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                    {
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/10970843"
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                    {
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                        "id": "15136577",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
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                ],
                "uniprot_canonical_ac": "Q96HE7-1"
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                "sequence_org": "C",
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                "evidence": [
                    {
                        "database": "UniProtKB",
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                    {
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                "sequence_mut": "S",
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                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
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                    {
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                "sequence_org": "C",
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                "comment": "Induces a decrease in activity towards thioredoxin. Loss of activity towards thioredoxin and loss of regulatory disulfide bond formation; when associated with A-99.",
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                    {
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    {
        "title": "Glutathione limits Ero1-dependent oxidation in the endoplasmic reticulum.",
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        "authors": "Molteni SN, Fassio A, Ciriolo MR, Filomeni G, Pasqualetto E, Fagioli C, Sitia R",
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                ],
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    {
        "title": "PDILT, a divergent testis-specific protein disulfide isomerase with a non-classical SXXC motif that engages in disulfide-dependent interactions in the endoplasmic reticulum.",
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        "authors": "van Lith M, Hartigan N, Hatch J, Benham AM",
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        ],
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                    {
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                        "field": "o_linked_glycan_sites",
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                    {
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            {
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                        "field": "total",
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                    {
                        "field": "total_sites",
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                    {
                        "field": "n_linked_glycan_sites",
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                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "A novel disulphide switch mechanism in Ero1alpha balances ER oxidation in human cells.",
        "journal": "The EMBO journal",
        "date": "2008",
        "authors": "Appenzeller-Herzog C, Riemer J, Christensen B, Sorensen ES, Ellgaard L",
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            "type": "PubMed",
            "id": "18833192",
            "url": "https://pubmed.ncbi.nlm.nih.gov/18833192"
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            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
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                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "mutagenesis": [
            {
                "start_pos": 131,
                "end_pos": 131,
                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "Loss of regulatory disulfide bond formation and increased activity towards P4HB. Loss of regulatory disulfide bond formation and strongly increased activity towards P4HB; when associated with A-85. Loss of regulatory disulfide bond formation, strongly increased activity towards P4HB and UPR induction, but no broad oxidative injury; when associated with A-104.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
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                    {
                        "database": "PubMed",
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                    {
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                    {
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                ],
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            },
            {
                "start_pos": 394,
                "end_pos": 394,
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                "comment": "Retains activity towards P4HB. Does not act as a dominant negative mutant. Induces defects in folding. Remains associated with P4HB.",
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                    {
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                    {
                        "database": "PubMed",
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                    {
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                        "id": "10671517",
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                    {
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                    {
                        "database": "PubMed",
                        "id": "10970843",
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        ],
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        "abstract": "",
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                    {
                        "field": "total",
                        "count": 1
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                ],
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                ],
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                    {
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                        "field": "o_linked_glycans",
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            {
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                        "field": "o_linked_sites",
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                        "field": "o_linked_glycan_sites",
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                        "field": "o_linked_glycans",
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            {
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                        "field": "o_linked_sites",
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                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
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                ],
                "sort_fields": []
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        ]
    },
    {
        "title": "Low reduction potential of Ero1alpha regulatory disulphides ensures tight control of substrate oxidation.",
        "journal": "The EMBO journal",
        "date": "2008",
        "authors": "Baker KM, Chakravarthi S, Langton KP, Sheppard AM, Lu H, Bulleid NJ",
        "reference": {
            "type": "PubMed",
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        ],
        "species": [
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                ],
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                "reference_species": "Homo sapiens [9606]"
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            {
                "start_pos": 104,
                "end_pos": 104,
                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "No effect. Strongly increased activity towards P4HB and UPR induction, but no broad oxidative injury; when associated with A-131.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
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                    {
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            {
                "start_pos": 104,
                "end_pos": 104,
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                "sequence_mut": "S",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
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                    {
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            {
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                "comment": "Loss of regulatory disulfide bond formation and increased activity towards P4HB. Loss of regulatory disulfide bond formation and strongly increased activity towards P4HB; when associated with A-85. Loss of regulatory disulfide bond formation, strongly increased activity towards P4HB and UPR induction, but no broad oxidative injury; when associated with A-104.",
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            {
                "start_pos": 166,
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                "sequence_mut": "A",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
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                "start_pos": 208,
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                "comment": "No effect.",
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                        "database": "UniProtKB",
                        "id": "Q96HE7",
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                    {
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                    {
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            {
                "start_pos": 208,
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                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
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                    {
                        "database": "PubMed",
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            },
            {
                "start_pos": 241,
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                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
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                    {
                        "database": "PubMed",
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                ],
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            },
            {
                "start_pos": 241,
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                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "No effect.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
                    },
                    {
                        "database": "PubMed",
                        "id": "15136577",
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                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 85,
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                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "Alters protein folding and stability. Loss of regulatory disulfide bond formation and increased activity towards P4HB; when associated with A-131.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
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                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
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                    {
                        "database": "PubMed",
                        "id": "15136577",
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                ],
                "uniprot_canonical_ac": "Q96HE7-1"
            },
            {
                "start_pos": 85,
                "end_pos": 85,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "Induces a decrease in activity.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q96HE7",
                        "url": "https://www.uniprot.org/uniprotkb/Q96HE7"
                    },
                    {
                        "database": "PubMed",
                        "id": "18971943",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18971943"
                    },
                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136577"
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                ],
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            },
            {
                "start_pos": 94,
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                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "Induces a decrease in activity towards thioredoxin. Loss of activity towards thioredoxin and loss of regulatory disulfide bond formation; when associated with A-99.",
                "evidence": [
                    {
                        "database": "UniProtKB",
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                    {
                        "database": "PubMed",
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    {
        "title": "The endoplasmic reticulum sulfhydryl oxidase Ero1beta drives efficient oxidative protein folding with loose regulation.",
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        "authors": "Wang L, Zhu L, Wang CC",
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        "title": "Secretory kinase Fam20C tunes endoplasmic reticulum redox state via phosphorylation of Ero1alpha.",
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        "title": "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.",
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        "title": "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.",
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        "title": "When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis.",
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        "title": "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.",
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    {
        "title": "Protein phosphatase 2Cepsilon is an endoplasmic reticulum integral membrane protein that dephosphorylates the ceramide transport protein CERT to enhance its association with organelle membranes.",
        "journal": "The Journal of biological chemistry",
        "date": "2008",
        "authors": "Saito S, Matsui H, Kawano M, Kumagai K, Tomishige N, Hanada K, Echigo S, Tamura S, Kobayashi T",
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                "protein_name": "Ceramide synthase 4",
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                "protein_name": "ORM1-like protein 1",
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                "uniprot_canonical_ac": "Q96LT4-1",
                "protein_name": "Sphingomyelin synthase-related protein 1",
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                "tax_name": "Human"
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            },
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        ],
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                "name": "Homo sapiens",
                "taxid": 9606,
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        ],
        "record_id": "pubmed.18165232",
        "abstract": "",
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    {
        "title": "Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate.",
        "journal": "The Journal of biological chemistry",
        "date": "2008",
        "authors": "Laviad EL, Albee L, Pankova-Kholmyansky I, Epstein S, Park H, Merrill AH Jr, Futerman AH",
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    {
        "title": "(R)-FTY720 methyl ether is a specific sphingosine kinase 2 inhibitor: Effect on sphingosine kinase 2 expression in HEK 293 cells and actin rearrangement and survival of MCF-7 breast cancer cells.",
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        "title": "Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.",
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        "authors": "Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J",
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    {
        "title": "Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.",
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        "date": "2014",
        "authors": "Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F",
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    {
        "title": "A selective ATP-competitive sphingosine kinase inhibitor demonstrates anti-cancer properties.",
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        "date": "2015",
        "authors": "Pitman MR, Powell JA, Coolen C, Moretti PA, Zebol JR, Pham DH, Finnie JW, Don AS, Ebert LM, Bonder CS, Gliddon BL, Pitson SM",
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        "title": "Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.",
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                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    }
]
