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                "reference_species": "Mus musculus [10090]"
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        ],
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        "abstract": "",
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    {
        "title": "Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "2021",
        "authors": "Chen X, Zhang J, Liu P, Wei Y, Wang X, Xiao J, Wang CC, Wang L",
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                "uniprot_canonical_ac": "Q9WTZ2-1",
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                "tax_name": "Mouse"
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            {
                "uniprot_canonical_ac": "Q14703-1",
                "protein_name": "Membrane-bound transcription factor site-1 protease",
                "gene_name": "MBTPS1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8IXL6-1",
                "protein_name": "Extracellular serine/threonine protein kinase FAM20C",
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        ],
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                "common_name": "Mouse",
                "glygen_name": "Mouse",
                "reference_species": "Mus musculus [10090]"
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        ],
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            {
                "start_pos": 414,
                "end_pos": 414,
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                "sequence_mut": "A",
                "comment": "Abolishes serine protease activity. Does not promote FAM20C kinase activity.",
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                    {
                        "database": "UniProtKB",
                        "id": "Q14703",
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                    },
                    {
                        "database": "PubMed",
                        "id": "30046013",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30046013"
                    },
                    {
                        "database": "PubMed",
                        "id": "34349020",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34349020"
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                ],
                "uniprot_canonical_ac": "Q14703-1"
            },
            {
                "start_pos": 106,
                "end_pos": 106,
                "sequence_org": "S",
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                "comment": "Abolishes phosphorylation.",
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                    {
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                        "url": "https://www.uniprot.org/uniprotkb/Q8IXL6"
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                    {
                        "database": "PubMed",
                        "id": "34349020",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34349020"
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                ],
                "uniprot_canonical_ac": "Q8IXL6-1"
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            {
                "start_pos": 28,
                "end_pos": 31,
                "sequence_org": "DLLP",
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                "comment": "Loss of membrane localization with more efficient secretion and loss of propeptide cleavage. Reduced oligomerization.",
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                    {
                        "database": "UniProtKB",
                        "id": "Q8IXL6",
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                    {
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                        "id": "34349020",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34349020"
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                ],
                "uniprot_canonical_ac": "Q8IXL6-1"
            },
            {
                "start_pos": 46,
                "end_pos": 46,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "No effect on homodimer formation. Complete disruption of homodimer formation but no effect on secretion; when associated with S-48.",
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                    {
                        "database": "UniProtKB",
                        "id": "Q8IXL6",
                        "url": "https://www.uniprot.org/uniprotkb/Q8IXL6"
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                    {
                        "database": "PubMed",
                        "id": "34349020",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34349020"
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                ],
                "uniprot_canonical_ac": "Q8IXL6-1"
            },
            {
                "start_pos": 478,
                "end_pos": 478,
                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "Unable to bind manganese. Abrogates kinase activity. Loss of ERO1A phosphorylation. Loss of autophosphorylation. Loss of ability to promote osteoblast differentiation.",
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                    {
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                    {
                        "database": "PubMed",
                        "id": "22582013",
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                    {
                        "database": "PubMed",
                        "id": "26091039",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26091039"
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                    {
                        "database": "PubMed",
                        "id": "23754375",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/23754375"
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                    {
                        "database": "PubMed",
                        "id": "25789606",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/25789606"
                    },
                    {
                        "database": "PubMed",
                        "id": "29858230",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/29858230"
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                    {
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                        "id": "34349020",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34349020"
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                ],
                "uniprot_canonical_ac": "Q8IXL6-1"
            },
            {
                "start_pos": 48,
                "end_pos": 48,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "No effect on homodimer formation. Complete disruption of homodimer formation but no effect on secretion; when associated with S-46.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8IXL6",
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                    {
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            },
            {
                "start_pos": 89,
                "end_pos": 89,
                "sequence_org": "R",
                "sequence_mut": "A",
                "comment": "Impaired secretion. Loss of ability to promote osteoblast differentiation; when associated with A-92.",
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                "start_pos": 90,
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                "sequence_org": "I",
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                        "database": "UniProtKB",
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                "comment": "Impaired secretion.",
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                ],
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            },
            {
                "start_pos": 92,
                "end_pos": 92,
                "sequence_org": "Q",
                "sequence_mut": "A",
                "comment": "Impaired secretion. Loss of ability to promote osteoblast differentiation; when associated with A-89.",
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                    {
                        "database": "UniProtKB",
                        "id": "Q8IXL6",
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                        "database": "PubMed",
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                ],
                "uniprot_canonical_ac": "Q8IXL6-1"
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        ],
        "phosphorylation": [
            {
                "start_pos": 106,
                "end_pos": 106,
                "kinase_uniprot_canonical_ac": "",
                "kinase_gene_name": "",
                "residue": "Ser",
                "comment": "Phosphoserine",
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                    {
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                        "id": "34349020",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34349020"
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                    {
                        "database": "iPTMnet",
                        "id": "Q8IXL6",
                        "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXL6"
                    }
                ],
                "site_lbl": "Ser106",
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        "record_id": "pubmed.34349020",
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                "table_id": "glycosylation_reported_with_glycan",
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        ]
    },
    {
        "title": "S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.",
        "journal": "EMBO Mol. Med.",
        "date": "2022",
        "authors": "Chen Fuying, Ni Cheng, Wang Xiaoxiao, Cheng Ruhong, Pan Chaolan, Wang Yumeng, Liang Jianying, Zhang Jia, Cheng Jinke, Chin Y Eugene, Zhou Yi, Wang Zhen, Guo Yiran, Chen She, Htun Stephanie, Mathes Erin F, de Alba Campomanes Alejandra G, Slavotinek Anne M, Zhang Si, Li Ming, Yao Zhirong",
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            {
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            },
            {
                "uniprot_canonical_ac": "P38117-1",
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            },
            {
                "uniprot_canonical_ac": "P13804-1",
                "protein_name": "Electron transfer flavoprotein subunit alpha, mitochondrial",
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        ],
        "species": [
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                "name": "Mus musculus",
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                ],
                "common_name": "Mouse",
                "glygen_name": "Mouse",
                "reference_species": "Mus musculus [10090]"
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        ],
        "record_id": "pubmed.35362222",
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]
