{ "uniprot_canonical_ac": "P02786-1", "uniprot_ac": "P02786", "uniprot_id": "TFR1_HUMAN", "mass": { "chemical_mass": 84871.0, "monoisotopic_mass": 84871.0 }, "refseq": { "ac": "NP_001121620", "name": "transferrin receptor protein 1 isoform 1", "summary": "This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" }, "gene_names": [ { "name": "TFRC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02786", "id": "P02786" }, { "name": "CD71; IMD46; p90; T9; TFR; TFR1; TR; TRFR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620", "id": "NP_001121620" }, { "name": "TFRC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620", "id": "NP_001121620" }, { "name": "hCG_22086", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02786", "id": "P02786" } ], "protein_names": [ { "name": "Transferrin receptor protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02786" }, { "name": "T9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02786" }, { "name": "TR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02786" }, { "name": "TfR1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02786" }, { "name": "TfR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02786" }, { "name": "Trfr", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02786" }, { "name": "p90", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02786" }, { "name": "transferrin receptor protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620", "id": "NP_001121620" }, { "name": "transferrin receptor protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620", "id": "NP_001121620" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786#function" }, { "database": "PubMed", "id": "18268337", "url": "https://glygen.org/publication/PubMed/18268337" }, { "database": "PubMed", "id": "17287727", "url": "https://glygen.org/publication/PubMed/17287727" } ] }, { "annotation": "Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Acts as a lipid sensor that regulates mitochondrial fusion by regulating activation of the JNK pathway.", "evidence": [ { "database": "UniProtKB", "id": "A0A8V8TM46", "url": "https://www.uniprot.org/uniprot/A0A8V8TM46#function" }, { "database": "UniProtKB", "id": "RU367157", "url": "https://www.uniprot.org/uniprot/RU367157#function" }, { "database": "UniProtKB", "id": "A0A8V8TND0", "url": "https://www.uniprot.org/uniprot/A0A8V8TND0#function" }, { "database": "UniProtKB", "id": "A0A8V8TN37", "url": "https://www.uniprot.org/uniprot/A0A8V8TN37#function" }, { "database": "UniProtKB", "id": "A0A8V8TLM6", "url": "https://www.uniprot.org/uniprot/A0A8V8TLM6#function" }, { "database": "UniProtKB", "id": "A0A8V8TLN0", "url": "https://www.uniprot.org/uniprot/A0A8V8TLN0#function" }, { "database": "UniProtKB", "id": "A0A8V8TLK4", "url": "https://www.uniprot.org/uniprot/A0A8V8TLK4#function" }, { "database": "UniProtKB", "id": "A0A8V8TLK7", "url": "https://www.uniprot.org/uniprot/A0A8V8TLK7#function" }, { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786#function" }, { "database": "PubMed", "id": "3568132", "url": "https://glygen.org/publication/PubMed/3568132" }, { "database": "PubMed", "id": "26642240", "url": "https://glygen.org/publication/PubMed/26642240" }, { "database": "PubMed", "id": "26214738", "url": "https://glygen.org/publication/PubMed/26214738" }, { "database": "UniProtKB", "id": "G3V0E5", "url": "https://www.uniprot.org/uniprot/G3V0E5#function" }, { "database": "UniProtKB", "id": "A0A8V8TM41", "url": "https://www.uniprot.org/uniprot/A0A8V8TM41#function" } ] }, { "annotation": "Dysregulation of iron homeostasis by TfR-1 renders EZH2 wild type diffuse large B-cell lymphoma resistance to EZH2 inhibition.", "evidence": [ { "database": "RefSeq", "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" }, { "database": "PubMed", "id": "37225847", "url": "https://glygen.org/publication/PubMed/37225847" } ] }, { "annotation": "Influenza A virus exploits transferrin receptor recycling to enter host cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" }, { "database": "PubMed", "id": "37192162", "url": "https://glygen.org/publication/PubMed/37192162" } ] }, { "annotation": "NUF2 Drives Cholangiocarcinoma Progression and Migration via Inhibiting Autophagic Degradation of TFR1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" }, { "database": "PubMed", "id": "37056930", "url": "https://glygen.org/publication/PubMed/37056930" } ] }, { "annotation": "TfR1 gene expression as a potential biomarker for iron deficiency in heart failure.", "evidence": [ { "database": "RefSeq", "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" }, { "database": "PubMed", "id": "37230427", "url": "https://glygen.org/publication/PubMed/37230427" } ] }, { "annotation": "The hepatic niche leads to aggressive natural killer cell leukemia proliferation through the transferrin-transferrin receptor 1 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" }, { "database": "PubMed", "id": "37146246", "url": "https://glygen.org/publication/PubMed/37146246" } ] }, { "annotation": "This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001121620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121620" } ] } ], "disease": [ { "disease_id": "DOID:0111948", "recommended_name": { "id": "DOID:0111948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111948", "name": "immunodeficiency 46", "description": "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29." }, "synonyms": [ { "id": "DOID:0111948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111948", "name": "IMD46", "description": "" }, { "id": "DOID:0111948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111948", "name": "CID due to TFRC deficiency", "description": "" }, { "id": "DOID:0111948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111948", "name": "TFRC-related combined immunodeficiency", "description": "" }, { "id": "DOID:0111948", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111948", "name": "combined immunodeficiency due to TFRC deficiency", "description": "" }, { "id": "MONDO:0014760", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014760", "name": "TFRC-related combined immunodeficiency", "description": "" }, { "id": "MONDO:0014760", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014760", "name": "CID due to TFRC deficiency", "description": "" }, { "id": "MONDO:0014760", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014760", "name": "IMD46", "description": "" }, { "id": "MONDO:0014760", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014760", "name": "immunodeficiency 46", "description": "" }, { "id": "MONDO:0014760", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014760", "name": "immunodeficiency type 46", "description": "" }, { "id": "MONDO:0014760", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014760", "name": "combined immunodeficiency due to TFRC deficiency", "description": "" }, { "id": "MIM:616740", "resource": "MIM", "url": "https://www.omim.org/entry/616740", "name": "Immunodeficiency 46", "description": "Immunodeficiency 46" } ], "evidence": [ { "id": "616740", "database": "MIM", "url": "https://www.omim.org/entry/616740" } ] } ], "snv": [ { "evidence": [ { "id": "rs202242239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202242239" }, { "id": "rs202242239", "database": "ExAC", "url": 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n-glyco-sequon-gain (NNG->NNS).", "chr_id": "3", "chr_pos": "196052055", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "G724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168459895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168459895" }, { "id": "rs1168459895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168459895" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 725, "end_pos": 725, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "3", "chr_pos": "196052052", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A725", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 20, "end_pos": 20, "sequence_org": "Y", "sequence_mut": "C", "comment": "Only 35% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "2298808", "url": "https://glygen.org/publication/PubMed/2298808" }, { "database": "PubMed", "id": "2327986", "url": "https://glygen.org/publication/PubMed/2327986" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 20, "end_pos": 20, "sequence_org": "Y", "sequence_mut": "G", "comment": "Only 20% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "2298808", "url": "https://glygen.org/publication/PubMed/2298808" }, { "database": "PubMed", "id": "2327986", "url": "https://glygen.org/publication/PubMed/2327986" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 20, "end_pos": 23, "sequence_org": "YTRF", "sequence_mut": "PPGY", "comment": "Only 16% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 20, "end_pos": 34, "sequence_org": "YTRFSLARQVDGDNS", "sequence_mut": "PPGYSLARQVDYTRF", "comment": "No influence on endocytic uptake of the receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 21, "end_pos": 21, "sequence_org": "T", "sequence_mut": "F", "comment": "Only 88% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 21, "end_pos": 21, "sequence_org": "T", "sequence_mut": "TAA", "comment": "Only 19% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 21, "end_pos": 21, "sequence_org": "T", "sequence_mut": "TA", "comment": "Only 14% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "F", "sequence_mut": "Y", "comment": "Only 48% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "8408022", "url": "https://glygen.org/publication/PubMed/8408022" } ] }, { "start_pos": 31, "end_pos": 34, "sequence_org": "GDNS", "sequence_mut": "YTRF", "comment": "2-fold increase of the endocytic uptake of the receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 47, "end_pos": 50, "sequence_org": "NADN", "sequence_mut": "YTRF", "comment": "1.27-fold increase of the endocytic uptake of the receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 619, "end_pos": 619, "sequence_org": "L", "sequence_mut": "A", "comment": "20-fold reduced affinity for transferrin receptor. No binding to HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 622, "end_pos": 622, "sequence_org": "V", "sequence_mut": "A", "comment": "No significant effect on binding to transferrin nor HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 623, "end_pos": 623, "sequence_org": "R", "sequence_mut": "A", "comment": "No significant effect on binding to transferrin nor HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 629, "end_pos": 629, "sequence_org": "R", "sequence_mut": "A", "comment": ">5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 640, "end_pos": 640, "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on binding to transferrin. >10-fold reduced affinity for HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 641, "end_pos": 641, "sequence_org": "W", "sequence_mut": "A", "comment": "No significant effect on binding to transferrin nor HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 643, "end_pos": 643, "sequence_org": "Y", "sequence_mut": "A", "comment": "20-fold reduced affinity for transferrin. No binding to HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 644, "end_pos": 644, "sequence_org": "S", "sequence_mut": "A", "comment": "No significant effect on binding to transferrin nor HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 646, "end_pos": 646, "sequence_org": "R", "sequence_mut": "A", "comment": "No binding to transferrin.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "10377239", "url": "https://glygen.org/publication/PubMed/10377239" } ] }, { "start_pos": 646, "end_pos": 646, "sequence_org": "R", "sequence_mut": "H", "comment": "No binding to transferrin.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "10377239", "url": "https://glygen.org/publication/PubMed/10377239" } ] }, { "start_pos": 646, "end_pos": 646, "sequence_org": "R", "sequence_mut": "K", "comment": "5% binding to transferrin.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "10377239", "url": "https://glygen.org/publication/PubMed/10377239" } ] }, { "start_pos": 647, "end_pos": 647, "sequence_org": "G", "sequence_mut": "A", "comment": "Large effect on affinity for transferrin. 4-fold reduced affinity for HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "10377239", "url": "https://glygen.org/publication/PubMed/10377239" } ] }, { "start_pos": 648, "end_pos": 648, "sequence_org": "D", "sequence_mut": "A", "comment": "16% binding to transferrin.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "10377239", "url": "https://glygen.org/publication/PubMed/10377239" } ] }, { "start_pos": 648, "end_pos": 648, "sequence_org": "D", "sequence_mut": "E", "comment": "57% binding to transferrin.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "10377239", "url": "https://glygen.org/publication/PubMed/10377239" } ] }, { "start_pos": 650, "end_pos": 650, "sequence_org": "F", "sequence_mut": "Q", "comment": ">5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] }, { "start_pos": 9, "end_pos": 12, "sequence_org": "FSNL", "sequence_mut": "YTRF", "comment": "Only 80% as active as wild-type receptor.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000072274", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000072274" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02786", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02786" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02786", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02786" } ], "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02786", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02786" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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}, { "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02786-1", "url": "https://www.uniprot.org/uniprot/P02786-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 760, "header": "sp|P02786-1|TFR1_HUMAN Isoform 1 of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=2 CANONICAL=P02786-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TLK4-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDRVNWSMLILVLKKILRIYTLL", "length": 215, "header": "tr|A0A8V8TLK4-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196069508, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698282.1", "url": "https://www.ensembl.org/id/ENST00000698282.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513648.1", "url": "https://www.ensembl.org/id/ENSP00000513648.1" } ] } }, { "isoform_ac": "A0A8V8TLK7-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 686, "header": "tr|A0A8V8TLK7-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196051945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698290.1", "url": "https://www.ensembl.org/id/ENST00000698290.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513653.1", "url": "https://www.ensembl.org/id/ENSP00000513653.1" } ] } }, { "isoform_ac": "A0A8V8TLM6-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNHSGWSAMVRSWLTAASTSWVQAILLPQPPEELGLQVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 795, "header": "tr|A0A8V8TLM6-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196051945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698283.1", "url": "https://www.ensembl.org/id/ENST00000698283.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513649.1", "url": "https://www.ensembl.org/id/ENSP00000513649.1" } ] } }, { "isoform_ac": "A0A8V8TLN0-1", "url": "", "sequence": { "sequence": "XARSAFSNLGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 540, "header": "tr|A0A8V8TLN0-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077089, "end_pos": 196051944, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698294.1", "url": "https://www.ensembl.org/id/ENST00000698294.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513655.1", "url": "https://www.ensembl.org/id/ENSP00000513655.1" } ] } }, { "isoform_ac": "A0A8V8TM41-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMREGPQMMLLLTDARPSNHFLSPLLSLHRG", "length": 708, "header": "tr|A0A8V8TM41-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196027177, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698274.1", "url": "https://www.ensembl.org/id/ENST00000698274.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513645.1", "url": "https://www.ensembl.org/id/ENSP00000513645.1" } ] } }, { "isoform_ac": "A0A8V8TM46-1", "url": "", "sequence": { "sequence": "MDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 478, "header": "tr|A0A8V8TM46-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196068085, "end_pos": 196051945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698285.1", "url": "https://www.ensembl.org/id/ENST00000698285.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513650.1", "url": "https://www.ensembl.org/id/ENSP00000513650.1" } ] } }, { "isoform_ac": "A0A8V8TN37-1", "url": "", "sequence": { "sequence": "MDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVSELLGKEELKYV", "length": 411, "header": "tr|A0A8V8TN37-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196068085, "end_pos": 196053379, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698295.1", "url": "https://www.ensembl.org/id/ENST00000698295.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513656.1", "url": "https://www.ensembl.org/id/ENSP00000513656.1" } ] } }, { "isoform_ac": "A0A8V8TND0-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTYC", "length": 231, "header": "tr|A0A8V8TND0-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196071182, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698281.1", "url": "https://www.ensembl.org/id/ENST00000698281.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513647.1", "url": "https://www.ensembl.org/id/ENSP00000513647.1" } ] } }, { "isoform_ac": "F8WBE5-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGC", "length": 81, "header": "tr|F8WBE5-1|TFR1_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196072148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421258.1", "url": "https://www.ensembl.org/id/ENST00000421258.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402839.1", "url": "https://www.ensembl.org/id/ENSP00000402839.1" } ] } }, { "isoform_ac": "G3V0E5-1", "url": "", "sequence": { "sequence": "MIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 679, "header": "tr|G3V0E5-1|G3V0E5_HUMAN Computationally mapped isoform of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=1 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196074120, "end_pos": 196051945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420415.5", "url": "https://www.ensembl.org/id/ENST00000420415.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390133.1", "url": "https://www.ensembl.org/id/ENSP00000390133.1" } ] } }, { "isoform_ac": "P02786-1", "url": "", "sequence": { "sequence": "MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSKVWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTDSTCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNAAFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVAGQFVIKLTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDFGNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRKQNNGAFNETLFRNQLALATWTIQGAANALSGDVWDIDNEF", "length": 760, "header": "sp|P02786-1|TFR1_HUMAN Isoform 1 of Transferrin receptor protein 1 OS=Homo sapiens OX=9606 GN=TFRC PE=1 SV=2 CANONICAL=P02786-1" }, "locus": { "chromosome": "3", "start_pos": 196077099, "end_pos": 196051945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698280.1", "url": "https://www.ensembl.org/id/ENST00000698280.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513646.1", "url": "https://www.ensembl.org/id/ENSP00000513646.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LAGTESPVR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 101, "start_aa": "Leu", "end_pos": 109, "end_aa": "Arg", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LAGTESPVREEPGEDFPAAR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 101, "start_aa": "Leu", "end_pos": 120, "end_aa": "Arg", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LAGTESPVREEPGEDFPAARR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 101, "start_aa": "Leu", "end_pos": 121, "end_aa": "Arg", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AGTESPVREEPGEDFPAARRL", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 102, "start_aa": "Ala", "end_pos": 122, "end_aa": "Leu", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AGTESPVREEPGEDFPAARRLY", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 102, "start_aa": "Ala", "end_pos": 123, "end_aa": "Tyr", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G13041EF", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/607" }, { "id": "1421757", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1421757" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/607" }, { "id": "1421756", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1421756" }, { "id": "1421757", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1421757" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "P02786", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G45827ZM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "607", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/607" }, { "id": "1421757", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1421757" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "P02786", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02786" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", 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"pmid": "" }, { "name": "clathrin-coated endocytic vesicle membrane", "id": "GO:0030669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "HFE-transferrin receptor complex", "id": "GO:1990712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990712", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 29, "go_terms": [ { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "transferrin transport", "id": "GO:0033572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033572", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of NF-kappaB transcription factor activity", "id": "GO:0051092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051092", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "positive regulation of isotype switching", "id": "GO:0045830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045830", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fusion", "id": "GO:0010637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010637", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "transferrin receptor activity", "id": "GO:0004998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004998", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "transferrin receptor protein 1 N-glycosylated 1 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-251 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G98956LI. Example: UniProtKB:P02786-1, Asn-251, MOD:00160~GNO:G98956LI. [PRO:DNx, PMID:9136890]", "evidence": [ { "id": "PR:000052986", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052986" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 2 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-317 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G38586WN. Example: UniProtKB:P02786-1, Asn-317, MOD:00160~GNO:G38586WN. [PRO:DNx, PMID:9136890]", "evidence": [ { "id": "PR:000052987", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052987" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 3 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G21001NA. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G21001NA. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052988", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052988" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 4 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G26335RK. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G26335RK. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052989", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052989" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 5 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G45841FE. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G45841FE. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052990", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052990" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 6 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G47909JD. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G47909JD. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052991", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052991" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 7 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G48712ZJ. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G48712ZJ. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052992", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052992" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 8 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G62768NK. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G62768NK. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052993", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052993" } ] }, { "name": "transferrin receptor protein 1 N-glycosylated 9 (human)", "definition": "A transferrin receptor protein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-727 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan structure is represented by GlyTouCan:G74910CR. Example: UniProtKB:P02786-1, Asn-727, MOD:00160~GNO:G74910CR. [PRO:DNx, PMID:1421757, PMID:2403553, PMID:7780197]", "evidence": [ { "id": "PR:000052994", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052994" } ] }, { "name": "transferrin receptor protein 1 O-glycosylated 1 (human)", "definition": "A transferrin receptor protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-104 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02786-1, Thr-104, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052995", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052995" } ] }, { "name": "transferrin receptor protein 1 O-glycosylated 2 (human)", "definition": "A transferrin receptor protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-104 of the amino acid sequence represented by UniProtKB:P02786-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02786-1, Thr-104, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052996", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052996" } ] } ], "site_annotation": [ { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 317, "end_pos": 319, "annotation": "n_glycosylation_sequon" }, { "start_pos": 50, "end_pos": 52, "annotation": "n_glycosylation_sequon" }, { "start_pos": 55, "end_pos": 57, "annotation": "n_glycosylation_sequon" }, { "start_pos": 727, "end_pos": 729, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "1421757", "url": "https://glygen.org/publication/PubMed/1421757" }, { "database": "PubMed", "id": "1421756", "url": "https://glygen.org/publication/PubMed/1421756" }, { "database": "PubMed", "id": "3582362", "url": "https://glygen.org/publication/PubMed/3582362" } ] }, { "annotation": "Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "3582362", "url": "https://glygen.org/publication/PubMed/3582362" } ] }, { "annotation": "Stearoylated by ZDHHC6 which inhibits TFRC-mediated activation of the JNK pathway and promotes mitochondrial fragmentation (PubMed:26214738). Stearoylation does not affect iron uptake (PubMed:26214738).", "evidence": [ { "database": "UniProtKB", "id": "P02786", "url": "https://www.uniprot.org/uniprot/P02786" }, { "database": "PubMed", "id": "26214738", "url": "https://glygen.org/publication/PubMed/26214738" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 50, 55, 148, 251, 317, 372, 615, 722, 727 ], "o_linked_sites": [ 101, 102, 104, 106, 492, 687, 729 ], "snv_sites": [ 32, 50, 52, 55, 104, 106, 121, 150, 174, 251, 253, 277, 317, 376, 495, 687, 724, 725, 729 ], "glycation_sites": [], "phosphorylation_sites": [ 10, 19, 20, 21, 24, 34, 499, 503, 658 ], "sequon_annotation_sites": [ { "start_pos": 251, "end_pos": 253 }, { "start_pos": 317, "end_pos": 319 }, { "start_pos": 50, "end_pos": 52 }, { "start_pos": 55, "end_pos": 57 }, { "start_pos": 727, "end_pos": 729 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 83 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_glycans", "count": 48 }, { "field": "n_linked_glycan_sites", "count": 12 }, { "field": "o_linked_glycans", "count": 11 }, { "field": "o_linked_glycan_sites", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 76 }, { "field": "total_sites", "count": 12 }, { "field": "n_linked_glycans", "count": 48 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 11 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 24 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 16 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 691 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }