{ "uniprot_canonical_ac": "P13797-1", "uniprot_ac": "P13797", "uniprot_id": "PLST_HUMAN", "mass": { "chemical_mass": 70811.0, "monoisotopic_mass": 70811.0 }, "refseq": { "ac": "NP_001129497", "name": "plastin-3 isoform 1", "summary": "Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" }, "gene_names": [ { "name": "PLS3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13797", "id": "P13797" }, { "name": "BMND18; DIH5; T-plastin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497", "id": "NP_001129497" }, { "name": "PLS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497", "id": "NP_001129497" } ], "protein_names": [ { "name": "Plastin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13797" }, { "name": "T fimbrin; T plastin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497", "id": "NP_001129497" }, { "name": "T-plastin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13797" }, { "name": "plastin-3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497", "id": "NP_001129497" } ], "function": [ { "annotation": "Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development.", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797#function" } ] }, { "annotation": "Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" }, { "database": "PubMed", "id": "36812914", "url": "https://glygen.org/publication/PubMed/36812914" } ] }, { "annotation": "PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" }, { "database": "PubMed", "id": "38043102", "url": "https://glygen.org/publication/PubMed/38043102" } ] }, { "annotation": "PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" }, { "database": "PubMed", "id": "37751738", "url": "https://glygen.org/publication/PubMed/37751738" } ] }, { "annotation": "PLS3 promotes papillary thyroid carcinoma progression by activating the Notch signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" }, { "database": "PubMed", "id": "37347555", "url": "https://glygen.org/publication/PubMed/37347555" } ] }, { "annotation": "Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy.", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" }, { "database": "PubMed", "id": "36607273", "url": "https://glygen.org/publication/PubMed/36607273" } ] }, { "annotation": "Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" } ] } ], "disease": [ { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "fracture, hip, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, involutional", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "evidence": [ { "id": "166710", "database": "MIM", "url": "https://www.omim.org/entry/166710" } ] }, { "disease_id": "MONDO:0018315", "recommended_name": { "id": "MONDO:0018315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018315", "name": "X-linked osteoporosis with fractures", "description": "" }, "synonyms": [], "evidence": [ { "id": "300910", "database": "MIM", "url": "https://www.omim.org/entry/300910" } ] } ], "snv": [ { "evidence": [ { "id": "P13797", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13797" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 100, "end_pos": 100, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRK->NRT).", "chr_id": "X", "chr_pos": "115629259", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K100", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease 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"database": "BioXpress", "id": "P13797", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13797" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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[DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13797", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13797" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHSYSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLFADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTSIQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARVYALPEDLVEVKPKMVMTVFACLMGRGMKRV", "length": 630, "header": "sp|P13797-1|PLST_HUMAN Isoform 1 of Plastin-3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=4 CANONICAL=P13797-1" }, "isoforms": [ { "isoform_ac": "F2Z2Z9-1", "url": "", "sequence": { "sequence": "MDEMATTQISKDELDELKEAFAKVVETEFHRVSQDGLDLLTS", "length": 42, "header": "tr|F2Z2Z9-1|PLST_HUMAN Computationally mapped isoform of Plastin-3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=1 CANONICAL=P13797-1" }, "locus": { "chromosome": "X", "start_pos": 115614205, "end_pos": 115610251, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626746.2", "url": "https://www.ensembl.org/id/ENST00000626746.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487343.1", "url": "https://www.ensembl.org/id/ENSP00000487343.1" } ] } }, { "isoform_ac": "H7C4N2-1", "url": "", "sequence": { "sequence": "XFKLCFVELSTQPEFMLTDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVEL", "length": 190, "header": "tr|H7C4N2-1|PLST_HUMAN Computationally mapped isoform of Plastin-3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=1 CANONICAL=P13797-1" }, "locus": { "chromosome": "X", "start_pos": 115646431, "end_pos": 115639718, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497870.1", "url": "https://www.ensembl.org/id/ENST00000497870.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417728.1", "url": "https://www.ensembl.org/id/ENSP00000417728.1" } ] } }, { "isoform_ac": "P13797-1", "url": "", "sequence": { "sequence": "MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHSYSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLFADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTSIQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARVYALPEDLVEVKPKMVMTVFACLMGRGMKRV", "length": 630, "header": "sp|P13797-1|PLST_HUMAN Isoform 1 of Plastin-3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=4 CANONICAL=P13797-1" }, "locus": { "chromosome": "X", "start_pos": 115649558, "end_pos": 115610251, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355899.8", "url": "https://www.ensembl.org/id/ENST00000355899.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000348163.3", "url": "https://www.ensembl.org/id/ENSP00000348163.3" } ] } }, { "isoform_ac": "P13797-2", "url": "", "sequence": { "sequence": "MEDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHSYSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLFADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKLIDFSNSVKDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTSIQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARVYALPEDLVEVKPKMVMTVFACLMGRGMKRV", "length": 617, "header": "sp|P13797-2|PLST_HUMAN Isoform 2 of Plastin-3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=4 CANONICAL=P13797-1" }, "locus": { "chromosome": "X", "start_pos": 115649558, "end_pos": 115610915, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000289290.7", "url": "https://www.ensembl.org/id/ENST00000289290.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000289290.4", "url": "https://www.ensembl.org/id/ENSP00000289290.4" } ] } }, { "isoform_ac": "P13797-3", "url": "", "sequence": { "sequence": "MPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHSYSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLFADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTSIQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARVYALPEDLVEVKPKMVMTVFACLMGRGMKRV", "length": 585, "header": "sp|P13797-3|PLST_HUMAN Isoform 3 of Plastin-3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=4 CANONICAL=P13797-1" }, "locus": {} }, { "isoform_ac": "U3KQI3-1", "url": "", "sequence": { "sequence": "MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYLWPKPFVLNSMFNKEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQ", "length": 164, "header": "tr|U3KQI3-1|U3KQI3_HUMAN Computationally mapped isoform of Plastin 3 OS=Homo sapiens OX=9606 GN=PLS3 PE=1 SV=1 CANONICAL=P13797-1" }, "locus": { "chromosome": "X", "start_pos": 115634081, "end_pos": 115610251, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000473026.6", "url": "https://www.ensembl.org/id/ENST00000473026.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000475900.1", "url": "https://www.ensembl.org/id/ENSP00000475900.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 122, "start_aa": "Ser", "end_pos": 122, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser122", "evidence": [ { "id": "P13797", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" } ] } ], "phosphorylation": [ { "start_pos": 117, "end_pos": 117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Thr117" }, { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser173" }, { "start_pos": 203, "end_pos": 203, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser203" }, { "start_pos": 205, "end_pos": 205, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser205" }, { "start_pos": 268, "end_pos": 268, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser268" }, { "start_pos": 293, "end_pos": 293, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser293" }, { "start_pos": 326, "end_pos": 326, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" } ], "site_lbl": "Ser326" }, { "start_pos": 339, "end_pos": 339, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser339" }, { "start_pos": 391, "end_pos": 391, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" } ], "site_lbl": "Thr391" }, { "start_pos": 617, "end_pos": 617, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr617" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "iPTMnet", "id": "P13797-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P13797-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "iPTMnet", "id": "P13797-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P13797-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "iPTMnet", "id": "P13797-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Correction of the N-terminal sequences of the human plastin isoforms by using anchored polymerase chain reaction: identification of a potential calcium-binding domain.", "journal": "Mol. Cell. Biol.", "date": "1990", "authors": "Lin C S, Aebersold R H, Leavitt J", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" } ], "reference": [ { "type": "PubMed", "id": "2378651", "url": "https://glygen.org/publication/PubMed/2378651" } ] }, { "title": "PLS3 mutations in X-linked osteoporosis with fractures.", "journal": "The New England journal of medicine", "date": "2013", "authors": "van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" } ], "reference": [ { "type": "PubMed", "id": "24088043", "url": "https://glygen.org/publication/PubMed/24088043" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" }, { "database": "iPTMnet", "id": "P13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13797" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Molecular cloning and characterization of plastin, a human leukocyte protein expressed in transformed human fibroblasts.", "journal": "Mol. Cell. Biol.", "date": "1988", "authors": "Lin CS, Aebersold RH, Kent SB, Varma M, Leavitt J", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" } ], "reference": [ { "type": "PubMed", "id": "3211125", "url": "https://glygen.org/publication/PubMed/3211125" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13797", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13797" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy.", "journal": "The Journal of cell biology", "date": "2023-03-06", "authors": "Hennlein Luisa, Ghanawi Hanaa, Gerstner Florian, Palominos Garc\u00eda Eduardo, Yildirim Ezgi, Saal-Bauernschubert Lena, Moradi Mehri, Deng Chunchu, Klein Teresa, Appenzeller Silke, Sauer Markus, Briese Michael, Simon Christian, Sendtner Michael, Jablonka Sibylle", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" } ], "reference": [ { "type": "PubMed", "id": "36607273", "url": "https://glygen.org/publication/PubMed/36607273" } ] }, { "title": "Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.", "journal": "American journal of human genetics", "date": "2023-03-02", "authors": "Strathmann Eike A, H\u00f6lker Irmgard, Tschernoster Nikolai, Hosseinibarkooie Seyyedmohsen, Come Julien, Martinat Cecile, Altm\u00fcller Janine, Wirth Brunhilde", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" } ], "reference": [ { "type": "PubMed", "id": "36812914", "url": "https://glygen.org/publication/PubMed/36812914" } ] }, { "title": "PLS3 promotes papillary thyroid carcinoma progression by activating the Notch signaling pathway.", "journal": "Environmental toxicology", "date": "2024-02", "authors": "Wang Dongtao, Liu Jingping, Chen Yong, Jia Lanning, Zhao Ke, He Xianghui", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" } ], "reference": [ { "type": "PubMed", "id": "37347555", "url": "https://glygen.org/publication/PubMed/37347555" } ] }, { "title": "PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.", "journal": "American journal of human genetics", "date": "2023-10-05", "authors": "Petit Florence, Longoni Mauro, Wells Julie, Maser Richard S, Bogenschutz Eric L, Dysart Matthew J, Contreras Hannah T M, Fr\u00e9nois Frederic, Pober Barbara R, Clark Robin D, Giampietro Philip F, Ropers Hilger H, Hu Hao, Loscertales Maria, Wagner Richard, Ai Xingbin, Brand Harrison, Jourdain Anne-Sophie, Delrue Marie-Ange, Gilbert-Dussardier Brigitte, Devisme Louise, Keren Boris, McCulley David J, Qiao Lu, Hernan Rebecca, Wynn Julia, Scott Tiana M, Calame Daniel G, Coban-Akdemir Zeynep, Hernandez Patricia, Hernandez-Garcia Andres, Yonath Hagith, Lupski James R, Shen Yufeng, Chung Wendy K, Scott Daryl A, Bult Carol J, Donahoe Patricia K, High Frances A", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" } ], "reference": [ { "type": "PubMed", "id": "37751738", "url": "https://glygen.org/publication/PubMed/37751738" } ] }, { "title": "PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.", "journal": "Calcified tissue international", "date": "2024-02", "authors": "Costa Adriana, Martins Andreia, Machado Catarina, Lundberg Elena, Nilsson Ola, Wang Fan, Costantini Alice, Tournis Symeon, H\u00f6ppner Jakob, Grasemann Corinna, M\u00e4kitie Outi", "evidence": [ { "database": "RefSeq", "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497" } ], "reference": [ { "type": "PubMed", "id": "38043102", "url": "https://glygen.org/publication/PubMed/38043102" } ] }, { "title": "Human plastin genes. Comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells.", "journal": "J. Biol. Chem.", "date": "1993", "authors": "Lin C S, Park T, Chen Z P, Leavitt J", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" } ], "reference": [ { "type": "PubMed", "id": "8428952", "url": "https://glygen.org/publication/PubMed/8428952" } ] }, { "title": "The structure of an actin-crosslinking domain from human fimbrin.", "journal": "Nat. Struct. Biol.", "date": "1997", "authors": "Goldsmith S C, Pokala N, Shen W, Fedorov A A, Matsudaira P, Almo S C", "evidence": [ { "database": "UniProtKB", "id": "P13797", "url": "https://www.uniprot.org/uniprot/P13797" } ], "reference": [ { "type": "PubMed", "id": "9302997", "url": "https://glygen.org/publication/PubMed/9302997" } ] } ], "pathway": [ { "id": "hsa:5358", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5358", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q99K51-1", "protein_name": "Plastin-3", "gene_name": "Pls3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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