{ "uniprot_canonical_ac": "P08195-1", "uniprot_ac": "P08195", "uniprot_id": "4F2_HUMAN", "mass": { "chemical_mass": 67994.0, "monoisotopic_mass": 67994.0 }, "refseq": { "ac": "NP_001012680", "name": "amino acid transporter heavy chain SLC3A2 isoform b", "summary": "This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" }, "gene_names": [ { "name": "SLC3A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08195", "id": "P08195" }, { "name": "4F2; 4F2HC; 4T2HC; CD98; CD98HC; MDU1; NACAE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680", "id": "NP_001012680" }, { "name": "MDU1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08195", "id": "P08195" }, { "name": "SLC3A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680", "id": "NP_001012680" } ], "protein_names": [ { "name": "Amino acid transporter heavy chain SLC3A2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08195" }, { "name": "4F2 cell-surface antigen heavy chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08195" }, { "name": "4F2 heavy chain antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08195" }, { "name": "4F2hc", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08195" }, { "name": "Lymphocyte activation antigen 4F2 large subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08195" }, { "name": "Solute carrier family 3 member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08195" }, { "name": "amino acid transporter heavy chain SLC3A2 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680", "id": "NP_001012680" }, { "name": "antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43; solute carrier family 3 (amino acid transporter heavy chain), member 2; solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2; antigen defined by monoclonal antibody 4F2, heavy chain; CD98 heavy chain; monoclonal antibody 44D7; 4F2 cell-surface antigen heavy chain; lymphocyte activation antigen 4F2 large subunit; amino acid transporter heavy chain SLC3A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680", "id": "NP_001012680" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for malaria parasite Plasmodium vivax (Thai isolate) in immature red blood cells.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#function" }, { "database": "PubMed", "id": "34294905", "url": "https://glygen.org/publication/PubMed/34294905" } ] }, { "annotation": "(Microbial infection) In case of hepatitis C virus/HCV infection, the complex formed by SLC3A2 and SLC7A5/LAT1 plays a role in HCV propagation by facilitating viral entry into host cell and increasing L-leucine uptake-mediated mTORC1 signaling activation, thereby contributing to HCV-mediated pathogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#function" }, { "database": "PubMed", "id": "30341327", "url": "https://glygen.org/publication/PubMed/30341327" } ] }, { "annotation": "Acts as a chaperone that facilitates biogenesis and trafficking of functional transporters heterodimers to the plasma membrane. Forms heterodimer with SLC7 family transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A10 and SLC7A11), a group of amino-acid antiporters (PubMed:11557028, PubMed:9829974, PubMed:9751058, PubMed:9878049, PubMed:10574970, PubMed:10903140, PubMed:30867591, PubMed:33298890, PubMed:33758168, PubMed:34880232). Heterodimers function as amino acids exchangers, the specificity of the substrate depending on the SLC7A subunit. Heterodimers SLC3A2/SLC7A6 or SLC3A2/SLC7A7 mediate the uptake of dibasic amino acids (PubMed:9829974, PubMed:10903140). Heterodimer SLC3A2/SLC7A11 functions as an antiporter by mediating the exchange of extracellular anionic L-cystine and intracellular L-glutamate across the cellular plasma membrane (PubMed:34880232). SLC3A2/SLC7A10 translocates small neutral L- and D-amino acids across the plasma membrane (By similarity). SLC3A2/SLC75 or SLC3A2/SLC7A8 translocates neutral amino acids with broad specificity, thyroid hormones and L-DOPA (PubMed:11557028, PubMed:10574970, PubMed:11389679, PubMed:11564694, PubMed:11742812, PubMed:12117417, PubMed:12225859, PubMed:15980244, PubMed:12716892, PubMed:33298890, PubMed:33758168, PubMed:30867591). SLC3A2 is essential for plasma membrane localization, stability, and the transport activity of SLC7A5 and SLC7A8 (PubMed:10391915, PubMed:10574970, PubMed:11311135, PubMed:15769744, PubMed:33066406). When associated with LAPTM4B, the heterodimer SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Modulates integrin-related signaling and is essential for integrin-dependent cell spreading, migration and tumor progression (PubMed:15625115, PubMed:11121428).", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#function" }, { "database": "PubMed", "id": "11564694", "url": "https://glygen.org/publication/PubMed/11564694" }, { "database": "PubMed", "id": "25998567", "url": "https://glygen.org/publication/PubMed/25998567" }, { "database": "PubMed", "id": "15980244", "url": "https://glygen.org/publication/PubMed/15980244" }, { "database": "PubMed", "id": "9751058", "url": "https://glygen.org/publication/PubMed/9751058" }, { "database": "PubMed", "id": "9829974", "url": "https://glygen.org/publication/PubMed/9829974" }, { "database": "PubMed", "id": "10903140", "url": "https://glygen.org/publication/PubMed/10903140" }, { "database": "PubMed", "id": "11389679", "url": "https://glygen.org/publication/PubMed/11389679" }, { "database": "PubMed", "id": "9878049", "url": "https://glygen.org/publication/PubMed/9878049" }, { "database": "PubMed", "id": "34880232", "url": "https://glygen.org/publication/PubMed/34880232" }, { "database": "PubMed", "id": "11311135", "url": "https://glygen.org/publication/PubMed/11311135" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" }, { "database": "PubMed", "id": "12117417", "url": "https://glygen.org/publication/PubMed/12117417" }, { "database": "PubMed", "id": "11557028", "url": "https://glygen.org/publication/PubMed/11557028" }, { "database": "PubMed", "id": "12716892", "url": "https://glygen.org/publication/PubMed/12716892" }, { "database": "PubMed", "id": "12225859", "url": "https://glygen.org/publication/PubMed/12225859" }, { "database": "PubMed", "id": "10574970", "url": "https://glygen.org/publication/PubMed/10574970" }, { "database": "PubMed", "id": "15769744", "url": "https://glygen.org/publication/PubMed/15769744" }, { "database": "PubMed", "id": "11742812", "url": "https://glygen.org/publication/PubMed/11742812" }, { "database": "PubMed", "id": "10391915", "url": "https://glygen.org/publication/PubMed/10391915" }, { "database": "UniProtKB", "id": "P63115", "url": "https://www.uniprot.org/uniprot/P63115#function" }, { "database": "PubMed", "id": "15625115", "url": "https://glygen.org/publication/PubMed/15625115" }, { "database": "PubMed", "id": "11121428", "url": "https://glygen.org/publication/PubMed/11121428" }, { "database": "PubMed", "id": "33066406", "url": "https://glygen.org/publication/PubMed/33066406" }, { "database": "PubMed", "id": "33758168", "url": "https://glygen.org/publication/PubMed/33758168" }, { "database": "PubMed", "id": "33298890", "url": "https://glygen.org/publication/PubMed/33298890" } ] }, { "annotation": "CD98 regulates the phosphorylation of HER2 and a bispecific anti-HER2/CD98 antibody inhibits the growth signal of human breast cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" }, { "database": "PubMed", "id": "36811310", "url": "https://glygen.org/publication/PubMed/36811310" } ] }, { "annotation": "HCMV-miR-US33-5p promotes apoptosis of aortic vascular smooth muscle cells by targeting EPAS1/SLC3A2 pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" }, { "database": "PubMed", "id": "35596131", "url": "https://glygen.org/publication/PubMed/35596131" } ] }, { "annotation": "Identification of CD98 as a Novel Biomarker for HIV-1 Permissiveness and Latent Infection.", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" }, { "database": "PubMed", "id": "36214569", "url": "https://glygen.org/publication/PubMed/36214569" } ] }, { "annotation": "Polarity protein SCRIB interacts with SLC3A2 to regulate proliferation and tamoxifen resistance in ER+ breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" }, { "database": "PubMed", "id": "35501367", "url": "https://glygen.org/publication/PubMed/35501367" } ] }, { "annotation": "SLC3A2 promotes tumor-associated macrophage polarization through metabolic reprogramming in lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" }, { "database": "PubMed", "id": "36793241", "url": "https://glygen.org/publication/PubMed/36793241" } ] }, { "annotation": "This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs751586740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751586740" }, { "id": "rs751586740", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751586740" }, { "id": "rs751586740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751586740" }, { "id": "rs1175609720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175609720" }, { "id": "rs1175609720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175609720" }, { "id": "rs757945289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757945289" }, { "id": "rs757945289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757945289" }, { "id": "rs757945289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757945289#frequency_tab" }, { "id": "rs757945289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757945289" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 128, "end_pos": 128, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "11", "chr_pos": "62881195", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753492632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753492632" }, { "id": "rs753492632", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753492632" }, { "id": "rs753492632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753492632#frequency_tab" }, { "id": "rs753492632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753492632" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 160, "end_pos": 160, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "11", "chr_pos": "62881936", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750013503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750013503" }, { "id": "rs750013503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750013503" }, { "id": "rs750013503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750013503#frequency_tab" }, { "id": "rs750013503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750013503" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "11", "chr_pos": "62881920", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1175609720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175609720" }, { "id": "rs1175609720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175609720" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 242, "end_pos": 242, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "11", "chr_pos": "62881982", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08195", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08195" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 285, "end_pos": 285, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFG->NFS).", "chr_id": "11", "chr_pos": "62882018", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G285", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs80190679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80190679" }, { "id": "rs80190679", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80190679" }, { "id": "rs80190679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80190679" }, { "id": "rs80190679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80190679#frequency_tab" }, { "id": "rs80190679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80190679" }, { "id": "rs1258543228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258543228" }, { "id": "rs1258543228", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1258543228#frequency_tab" }, { "id": "rs1258543228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258543228" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 307, "end_pos": 307, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "11", "chr_pos": "62881991", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "D307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477372207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477372207" }, { "id": "rs1477372207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477372207" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 354, "end_pos": 354, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "11", "chr_pos": "62884524", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763205241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763205241" }, { "id": "rs763205241", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763205241" }, { "id": "rs763205241", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763205241" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 365, "end_pos": 365, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "11", "chr_pos": "62884663", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N365", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1435343983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435343983" }, { "id": "rs1435343983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1435343983" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 381, "end_pos": 381, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "11", "chr_pos": "62885238", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751788730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788730" }, { "id": "rs751788730", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788730" }, { "id": "rs751788730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751788730" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 381, "end_pos": 381, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->HSS).", "chr_id": "11", "chr_pos": "62885196", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777378434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777378434" }, { "id": "rs777378434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777378434" }, { "id": "rs777378434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777378434" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 381, "end_pos": 381, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "11", "chr_pos": "62885239", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08195", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08195" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 383, "end_pos": 383, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->NSF).", "chr_id": "11", "chr_pos": "62885203", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S383", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765835967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765835967" }, { "id": "rs765835967", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765835967" }, { "id": "rs765835967", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765835967" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 415, "end_pos": 415, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKS->NKS).", "chr_id": "11", "chr_pos": "62885487", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1290138214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290138214" }, { "id": "rs1290138214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1290138214#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 430, "end_pos": 430, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRW->NRS).", "chr_id": "11", "chr_pos": "62885344", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W430", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752506194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752506194" }, { "id": "rs752506194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752506194" }, { "id": "rs752506194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752506194" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 506, "end_pos": 506, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->SMT).", "chr_id": "11", "chr_pos": "62888205", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N506", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 182, "end_pos": 182, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreased leucine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] }, { "start_pos": 182, "end_pos": 182, "sequence_org": "R", "sequence_mut": "E", "comment": "Strongly decreased leucine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] }, { "start_pos": 182, "end_pos": 182, "sequence_org": "R", "sequence_mut": "K", "comment": "Strongly decreased leucine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] }, { "start_pos": 182, "end_pos": 182, "sequence_org": "R", "sequence_mut": "L", "comment": "Strongly decreased leucine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] }, { "start_pos": 210, "end_pos": 210, "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes dimerization, leucine uptake and interaction with beta-1 integrins.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "9829974", "url": "https://glygen.org/publication/PubMed/9829974" }, { "database": "PubMed", "id": "11696247", "url": "https://glygen.org/publication/PubMed/11696247" }, { "database": "PubMed", "id": "17724034", "url": "https://glygen.org/publication/PubMed/17724034" } ] }, { "start_pos": 234, "end_pos": 630, "sequence_org": "QGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "sequence_mut": "", "comment": "Nearly abolishes leucine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] }, { "start_pos": 365, "end_pos": 365, "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-381; Q-424 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] }, { "start_pos": 381, "end_pos": 381, "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365; Q-424 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] }, { "start_pos": 424, "end_pos": 424, "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365 Q-381 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] }, { "start_pos": 431, "end_pos": 431, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on dimerization, leucine uptake or interaction with beta-1 integrins.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "9829974", "url": "https://glygen.org/publication/PubMed/9829974" }, { "database": "PubMed", "id": "11696247", "url": "https://glygen.org/publication/PubMed/11696247" } ] }, { "start_pos": 506, "end_pos": 506, "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365 Q-381 and Q-424.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] }, { "start_pos": 532, "end_pos": 532, "sequence_org": "K", "sequence_mut": "E", "comment": "Strongly decreased leucine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "84.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "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": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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, 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 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "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, 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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "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 Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08195" } ], "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, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC3A2", "url": "https://www.uniprot.org/uniprot/P08195", "locus": { "chromosome": "11", "start_pos": 62888880, "end_pos": 62856004, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000168003", "url": "https://www.ensembl.org/id/ENSG00000168003" } ] } } ], "crossref": [ { "id": "ENSG00000168003", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168003", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08195", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08195", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "GH13", "url": "http://www.cazy.org/GH13.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "cd11345", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11345", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SLC3A2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC3A2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6520", "url": "https://www.ncbi.nlm.nih.gov/gene/6520", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "984", "url": "https://glyconnect.expasy.org/browser/proteins/984", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "11026", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11026", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "F5GZS6", "url": "https://www.ebi.ac.uk/intact/interactors/id:F5GZS6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "H0YFS2", "url": "https://www.ebi.ac.uk/intact/interactors/id:H0YFS2*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P08195", "url": "https://www.ebi.ac.uk/intact/interactors/id:P08195*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006047", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006047", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013780", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013780", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017853", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017853", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR031984", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031984", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042280", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042280", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6520", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6520", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "158070", "url": "http://www.omim.org/entry/158070", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08195", "url": "https://www.nextprot.org/entry/NX_P08195", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "APFMLWD", "url": "https://omabrowser.org/oma/group/APFMLWD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4266085at2759", "url": "http://www.orthodb.org/?query=4266085at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46673", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46673", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46673:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46673:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2DH2", "url": "https://www.rcsb.org/structure/2DH2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2DH3", "url": "https://www.rcsb.org/structure/2DH3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6IRS", "url": "https://www.rcsb.org/structure/6IRS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6IRT", "url": "https://www.rcsb.org/structure/6IRT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6JMQ", "url": "https://www.rcsb.org/structure/6JMQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6JMR", "url": "https://www.rcsb.org/structure/6JMR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6S8V", "url": "https://www.rcsb.org/structure/6S8V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7B00", "url": "https://www.rcsb.org/structure/7B00", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CCS", "url": "https://www.rcsb.org/structure/7CCS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CMH", "url": "https://www.rcsb.org/structure/7CMH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CMI", "url": "https://www.rcsb.org/structure/7CMI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DF1", "url": "https://www.rcsb.org/structure/7DF1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DSK", "url": "https://www.rcsb.org/structure/7DSK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DSL", "url": "https://www.rcsb.org/structure/7DSL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DSN", "url": "https://www.rcsb.org/structure/7DSN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DSQ", "url": "https://www.rcsb.org/structure/7DSQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EPZ", "url": "https://www.rcsb.org/structure/7EPZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P9U", "url": "https://www.rcsb.org/structure/7P9U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P9V", "url": "https://www.rcsb.org/structure/7P9V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8A6L", "url": "https://www.rcsb.org/structure/8A6L", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00128", "url": "http://pfam.xfam.org/family/PF00128", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16028", "url": "http://pfam.xfam.org/family/PF16028", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08195", "url": "https://pharos.nih.gov/targets/P08195", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P08195", "url": "http://purl.obolibrary.org/obo/PR_P08195", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5660862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5660862", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A7P0T853", "url": "https://www.uniprot.org/uniprot/A0A7P0T853", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T853-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T853-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8F1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8F1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8F1-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8F1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8U7", "url": "https://www.uniprot.org/uniprot/A0A7P0T8U7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8U7-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8U7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9F7", "url": "https://www.uniprot.org/uniprot/A0A7P0T9F7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9F7-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T9F7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAN7", "url": "https://www.uniprot.org/uniprot/A0A7P0TAN7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAN7-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAN7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAS6", "url": "https://www.uniprot.org/uniprot/A0A7P0TAS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAS6-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAT7", "url": "https://www.uniprot.org/uniprot/A0A7P0TAT7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAT7-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAT7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TBF8", "url": "https://www.uniprot.org/uniprot/A0A7P0TBF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TBF8-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TBF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4A0", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4A0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4A0-1", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4A0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4P5", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4P5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4P5-1", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4P5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZI0", "url": "https://www.uniprot.org/uniprot/F5GZI0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZI0-1", "url": "https://www.uniprot.org/uniprot/F5GZI0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZR9", "url": "https://www.uniprot.org/uniprot/F5GZR9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZR9-1", "url": "https://www.uniprot.org/uniprot/F5GZR9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZS6", "url": "https://www.uniprot.org/uniprot/F5GZS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZS6-1", "url": "https://www.uniprot.org/uniprot/F5GZS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H056", "url": "https://www.uniprot.org/uniprot/F5H056", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H056-1", "url": "https://www.uniprot.org/uniprot/F5H056-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0E2", "url": "https://www.uniprot.org/uniprot/F5H0E2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0E2-1", "url": "https://www.uniprot.org/uniprot/F5H0E2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H867", "url": "https://www.uniprot.org/uniprot/F5H867", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H867-1", "url": "https://www.uniprot.org/uniprot/F5H867-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFS2", "url": "https://www.uniprot.org/uniprot/H0YFS2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFS2-1", "url": "https://www.uniprot.org/uniprot/H0YFS2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFX4", "url": "https://www.uniprot.org/uniprot/H0YFX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFX4-1", "url": "https://www.uniprot.org/uniprot/H0YFX4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH36", "url": "https://www.uniprot.org/uniprot/H0YH36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH36-1", "url": "https://www.uniprot.org/uniprot/H0YH36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08195-1", "url": "https://www.uniprot.org/uniprot/P08195-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08195-2", "url": "https://www.uniprot.org/uniprot/P08195-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08195-3", "url": "https://www.uniprot.org/uniprot/P08195-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08195-4", "url": "https://www.uniprot.org/uniprot/P08195-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08195-5", "url": "https://www.uniprot.org/uniprot/P08195-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASGDPLPSASQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 630, "header": "sp|P08195-1|4F2_HUMAN Isoform 1 of Amino acid transporter heavy chain SLC3A2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=3 CANONICAL=P08195-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T853-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGEWASRLPELSEGEGPCAGSNSQEPEG", "length": 168, "header": "tr|A0A7P0T853-1|A0A7P0T853_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62881974, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680134.1", "url": "https://www.ensembl.org/id/ENST00000680134.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504939.1", "url": "https://www.ensembl.org/id/ENSP00000504939.1" } ] } }, { "isoform_ac": "A0A7P0T8F1-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQSYFLCFSAYGGSSHAVG", "length": 398, "header": "tr|A0A7P0T8F1-1|A0A7P0T8F1_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888163, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680610.1", "url": "https://www.ensembl.org/id/ENST00000680610.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505079.1", "url": "https://www.ensembl.org/id/ENSP00000505079.1" } ] } }, { "isoform_ac": "A0A7P0T8U7-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQAFLKSYFLCFSAYGGSSHAVG", "length": 402, "header": "tr|A0A7P0T8U7-1|A0A7P0T8U7_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888163, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681107.1", "url": "https://www.ensembl.org/id/ENST00000681107.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505253.1", "url": "https://www.ensembl.org/id/ENSP00000505253.1" } ] } }, { "isoform_ac": "A0A7P0T9F7-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAAPISGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 603, "header": "tr|A0A7P0T9F7-1|A0A7P0T9F7_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680729.1", "url": "https://www.ensembl.org/id/ENST00000680729.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505639.1", "url": "https://www.ensembl.org/id/ENSP00000505639.1" } ] } }, { "isoform_ac": "A0A7P0TAN7-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSGTGSRAKLGRRSPLVGPFRESMSGQTGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 623, "header": "tr|A0A7P0TAN7-1|A0A7P0TAN7_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681467.1", "url": "https://www.ensembl.org/id/ENST00000681467.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506217.1", "url": "https://www.ensembl.org/id/ENSP00000506217.1" } ] } }, { "isoform_ac": "A0A7P0TAS6-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKVRVLDG", "length": 415, "header": "tr|A0A7P0TAS6-1|A0A7P0TAS6_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888236, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680297.1", "url": "https://www.ensembl.org/id/ENST00000680297.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506230.1", "url": "https://www.ensembl.org/id/ENSP00000506230.1" } ] } }, { "isoform_ac": "A0A7P0TAT7-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKNGVSLLSPRLQCSGTISAYCSLLPQGSSDSRASAS", "length": 304, "header": "tr|A0A7P0TAT7-1|A0A7P0TAT7_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62882608, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680002.1", "url": "https://www.ensembl.org/id/ENST00000680002.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506366.1", "url": "https://www.ensembl.org/id/ENSP00000506366.1" } ] } }, { "isoform_ac": "A0A7P0TBF8-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAAPISGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 533, "header": "tr|A0A7P0TBF8-1|A0A7P0TBF8_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681232.1", "url": "https://www.ensembl.org/id/ENST00000681232.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506460.1", "url": "https://www.ensembl.org/id/ENSP00000506460.1" } ] } }, { "isoform_ac": "A0A7P0Z4A0-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 616, "header": "tr|A0A7P0Z4A0-1|A0A7P0Z4A0_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680725.1", "url": "https://www.ensembl.org/id/ENST00000680725.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505585.1", "url": "https://www.ensembl.org/id/ENSP00000505585.1" } ] } }, { "isoform_ac": "A0A7P0Z4P5-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSGTGSRAKLGRRSPLVGPFRESMSGQLGSHCVAQTGLELLASGDPLPSASQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 654, "header": "tr|A0A7P0Z4P5-1|A0A7P0Z4P5_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681569.1", "url": "https://www.ensembl.org/id/ENST00000681569.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506498.1", "url": "https://www.ensembl.org/id/ENSP00000506498.1" } ] } }, { "isoform_ac": "F5GZI0-1", "url": "", "sequence": { "sequence": "MCRTPYISSSESRLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 400, "header": "tr|F5GZI0-1|F5GZI0_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=2 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62881722, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536981.6", "url": "https://www.ensembl.org/id/ENST00000536981.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000444439.2", "url": "https://www.ensembl.org/id/ENSP00000444439.2" } ] } }, { "isoform_ac": "F5GZR9-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFW", "length": 47, "header": "tr|F5GZR9-1|F5GZR9_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62881290, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541372.1", "url": "https://www.ensembl.org/id/ENST00000541372.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000444250.1", "url": "https://www.ensembl.org/id/ENSP00000444250.1" } ] } }, { "isoform_ac": "F5GZS6-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 599, "header": "tr|F5GZS6-1|F5GZS6_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535296.5", "url": "https://www.ensembl.org/id/ENST00000535296.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444236.1", "url": "https://www.ensembl.org/id/ENSP00000444236.1" } ] } }, { "isoform_ac": "F5H056-1", "url": "", "sequence": { "sequence": "MCRTPYISSSESRLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKIETIFNMLTGLVLNSPGLPSHILRPFLAHICFNGMNFARVQIQAFVPSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 447, "header": "tr|F5H056-1|F5H056_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=2 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62881722, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539891.6", "url": "https://www.ensembl.org/id/ENST00000539891.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000438353.2", "url": "https://www.ensembl.org/id/ENSP00000438353.2" } ] } }, { "isoform_ac": "F5H0E2-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDF", "length": 145, "header": "tr|F5H0E2-1|F5H0E2_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62882035, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539458.1", "url": "https://www.ensembl.org/id/ENST00000539458.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000438032.1", "url": "https://www.ensembl.org/id/ENSP00000438032.1" } ] } }, { "isoform_ac": "F5H867-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGH", "length": 135, "header": "tr|F5H867-1|F5H867_HUMAN Computationally mapped isoform of 4F2 cell-surface antigen heavy chain OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544377", "url": "https://www.ensembl.org/id/ENST00000544377" }, { "database": "Ensembl Peptide", "id": "ENSP00000442135", "url": "https://www.ensembl.org/id/ENSP00000442135" } ] } }, { "isoform_ac": "H0YFS2-1", "url": "", "sequence": { "sequence": "XSQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTETGFHHVSQADIEFLTSIDPTASASGSAGITGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTD", "length": 247, "header": "tr|H0YFS2-1|H0YFS2_HUMAN Computationally mapped isoform of 4F2 cell-surface antigen heavy chain OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538084", "url": "https://www.ensembl.org/id/ENST00000538084" }, { "database": "Ensembl Peptide", "id": "ENSP00000440001", "url": "https://www.ensembl.org/id/ENSP00000440001" } ] } }, { "isoform_ac": "H0YFX4-1", "url": "", "sequence": { "sequence": "XLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPHEGLLLRFPYAA", "length": 122, "header": "tr|H0YFX4-1|H0YFX4_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=1 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888692, "end_pos": 62885177, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539507.1", "url": "https://www.ensembl.org/id/ENST00000539507.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440819.1", "url": "https://www.ensembl.org/id/ENSP00000440819.1" } ] } }, { "isoform_ac": "H0YH36-1", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKASGNWERGDLD", "length": 241, "header": "tr|H0YH36-1|H0YH36_HUMAN Computationally mapped isoform of Solute carrier family 3 member 2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=2 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62884021, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679908.1", "url": "https://www.ensembl.org/id/ENST00000679908.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506238.1", "url": "https://www.ensembl.org/id/ENSP00000506238.1" } ] } }, { "isoform_ac": "P08195-1", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASGDPLPSASQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 630, "header": "sp|P08195-1|4F2_HUMAN Isoform 1 of Amino acid transporter heavy chain SLC3A2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=3 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377890.6", "url": "https://www.ensembl.org/id/ENST00000377890.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000367122.2", "url": "https://www.ensembl.org/id/ENSP00000367122.2" } ] } }, { "isoform_ac": "P08195-2", "url": "", "sequence": { "sequence": "MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 529, "header": "sp|P08195-2|4F2_HUMAN Isoform 2 of Amino acid transporter heavy chain SLC3A2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=3 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62881024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338663.12", "url": "https://www.ensembl.org/id/ENST00000338663.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000340815.7", "url": "https://www.ensembl.org/id/ENSP00000340815.7" } ] } }, { "isoform_ac": "P08195-3", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 568, "header": "sp|P08195-3|4F2_HUMAN Isoform 3 of Amino acid transporter heavy chain SLC3A2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=3 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377889.6", "url": "https://www.ensembl.org/id/ENST00000377889.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000367121.2", "url": "https://www.ensembl.org/id/ENSP00000367121.2" } ] } }, { "isoform_ac": "P08195-4", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASGDPLPSASQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTETGFHHVSQADIEFLTSIDPTASASGSAGITGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 661, "header": "sp|P08195-4|4F2_HUMAN Isoform 4 of Amino acid transporter heavy chain SLC3A2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=3 CANONICAL=P08195-1" }, "locus": {} }, { "isoform_ac": "P08195-5", "url": "", "sequence": { "sequence": "MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSETGSDCVTQAGLQLLASSDPPALASKNAEVTVETGFHHVSQADIEFLTSIDPTASASGSAGITGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA", "length": 631, "header": "sp|P08195-5|4F2_HUMAN Isoform 5 of Amino acid transporter heavy chain SLC3A2 OS=Homo sapiens OX=9606 GN=SLC3A2 PE=1 SV=3 CANONICAL=P08195-1" }, "locus": { "chromosome": "11", "start_pos": 62888690, "end_pos": 62856270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377891.6", "url": "https://www.ensembl.org/id/ENST00000377891.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000367123.2", "url": "https://www.ensembl.org/id/ENSP00000367123.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G10773YW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G12313PD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G14796IU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G20210JR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G20312EM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23984SE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47518TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G51640FO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G59536GA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G62894KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G76417NN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G77582RK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G80223IX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G81263BG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G86500WE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G86795LJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G92062TF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G95133RI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G96577RX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "P08195", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "12754519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12754519" }, { "id": "7P9V", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7P9V" }, { "id": "7EPZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7EPZ" }, { "id": "34880232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34880232" }, { "id": "35352032", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35352032" }, { "id": "30867591", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30867591" }, { "id": "6IRS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6IRS" }, { "id": "7CMI", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7CMI" }, { "id": "7DSK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7DSK" }, { "id": "33758168", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33758168" }, { "id": "33298890", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33298890" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G03461SC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G10039CR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23165GD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23221TW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G30769VJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G41882MT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47518TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G52890YB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G57581QG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64394MX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G66088HZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G66163OV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G66760KM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G69834CE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70894RY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G76417NN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G79286RS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G86795LJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G94831VI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "P08195", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "12754519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12754519" }, { "id": "7P9V", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7P9V" }, { "id": "7EPZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7EPZ" }, { "id": "34880232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34880232" }, { "id": "35352032", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35352032" }, { "id": "30867591", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30867591" }, { "id": "6IRS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6IRS" }, { "id": "7CMI", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7CMI" }, { "id": "7DSK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7DSK" }, { "id": "33758168", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33758168" }, { "id": "33298890", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33298890" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 395, "start_aa": "Asn", "end_pos": 395, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn395", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G10773YW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G13694XX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G33791AF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G34617SM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G49204YH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G62461SM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "984", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/984" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "Complex", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (complex) asparagine Complex", "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "P08195", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "id": "35352032", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35352032" }, { "id": "7CMI", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7CMI" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "33758168", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33758168" }, { "id": "7EPZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7EPZ" }, { "id": "19139490", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19139490" }, { "id": "33298890", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33298890" }, { "id": "7P9V", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7P9V" }, { "id": "7DSK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7DSK" }, { "id": "12754519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12754519" }, { "id": "30867591", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30867591" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "34880232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34880232" }, { "id": "6IRS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6IRS" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 506, "start_aa": "Asn", "end_pos": 506, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn506", "evidence": [ { "id": "P08195", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "id": "7DSK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7DSK" }, { "id": "34880232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34880232" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "30867591", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30867591" }, { "id": "33758168", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33758168" }, { "id": "7P9V", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7P9V" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "7CMH", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7CMH" }, { "id": "7EPZ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7EPZ" }, { "id": "33298890", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33298890" }, { "id": "35352032", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35352032" }, { "id": "6IRS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6IRS" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P08195", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "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": "21526146", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21526146" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "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": 103, "end_pos": 103, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser103" }, { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr106" }, { "start_pos": 134, "end_pos": 134, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser134" }, { "start_pos": 165, "end_pos": 165, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "site_lbl": "Ser165" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Glu", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ], "site_lbl": "Glu2" }, { "start_pos": 301, "end_pos": 301, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser301" }, { "start_pos": 312, "end_pos": 312, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Tyr312" }, { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "site_lbl": "Ser406" }, { "start_pos": 408, "end_pos": 408, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "site_lbl": "Ser408" }, { "start_pos": 410, "end_pos": 410, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "site_lbl": "Ser410" }, { "start_pos": 527, "end_pos": 527, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "site_lbl": "Ser527" }, { "start_pos": 531, "end_pos": 531, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "site_lbl": "Ser531" }, { "start_pos": 607, "end_pos": 607, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser607" }, { "start_pos": 9, "end_pos": 9, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser9" } ], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human LAT1, a subunit of system L amino acid transporter: molecular cloning and transport function.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Prasad PD, Wang H, Huang W, Kekuda R, Rajan DP, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "10049700", "url": "https://glygen.org/publication/PubMed/10049700" } ] }, { "title": "Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.", "journal": "Nature genetics", "date": "1999", "authors": "Torrents D, Mykkanen J, Pineda M, Feliubadalo L, Estevez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5660862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5660862" } ], "reference": [ { "type": "PubMed", "id": "10080182", "url": "https://glygen.org/publication/PubMed/10080182" } ] }, { "title": "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.", "journal": "Nature genetics", "date": "1999", "authors": "Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5660862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5660862" } ], "reference": [ { "type": "PubMed", "id": "10080183", "url": "https://glygen.org/publication/PubMed/10080183" } ] }, { "title": "Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10391915", "url": "https://glygen.org/publication/PubMed/10391915" } ] }, { "title": "Identification of three cationic amino acid transporters in placental trophoblast: cloning, expression, and characterization of hCAT-1.", "journal": "The Journal of membrane biology", "date": "1999", "authors": "Kamath SG, Furesz TC, Way BA, Smith CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10485994", "url": "https://glygen.org/publication/PubMed/10485994" } ] }, { "title": "LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine.", "journal": "The Journal of biological chemistry", "date": "1999-12-03", "authors": "Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F, K\u00fchn L C", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "10574970", "url": "https://glygen.org/publication/PubMed/10574970" } ] }, { "title": "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.", "journal": "American journal of human genetics", "date": "2000", "authors": "Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5660862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5660862" } ], "reference": [ { "type": "PubMed", "id": "10631139", "url": "https://glygen.org/publication/PubMed/10631139" } ] }, { "title": "Functional characterization and mechanism of action of recombinant human kynurenine 3-hydroxylase.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Breton J, Avanzi N, Magagnin S, Covini N, Magistrelli G, Cozzi L, Isacchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "10672018", "url": "https://glygen.org/publication/PubMed/10672018" } ] }, { "title": "Neutral amino acid transporter ASCT2 displays substrate-induced Na+ exchange and a substrate-gated anion conductance.", "journal": "The Biochemical journal", "date": "2000", "authors": "Broer A, Wagner C, Lang F, Broer S", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10698697", "url": "https://glygen.org/publication/PubMed/10698697" } ] }, { "title": "Primary structure, genomic organization, and functional and electrogenic characteristics of human system N 1, a Na+- and H+-coupled glutamine transporter.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Fei YJ, Sugawara M, Nakanishi T, Huang W, Wang H, Prasad PD, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10823827", "url": "https://glygen.org/publication/PubMed/10823827" } ] }, { "title": "Cloning and characterization of a human brain Na(+)-independent transporter for small neutral amino acids that transports D-serine with high affinity.", "journal": "Neuroscience letters", "date": "2000", "authors": "Nakauchi J, Matsuo H, Kim DK, Goto A, Chairoungdua A, Cha SH, Inatomi J, Shiokawa Y, Yamaguchi K, Saito I, Endou H, Kanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10863037", "url": "https://glygen.org/publication/PubMed/10863037" } ] }, { "title": "Homo-oligomer formation by basigin, an immunoglobulin superfamily member, via its N-terminal immunoglobulin domain.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Yoshida S, Shibata M, Yamamoto S, Hagihara M, Asai N, Takahashi M, Mizutani S, Muramatsu T, Kadomatsu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "10880960", "url": "https://glygen.org/publication/PubMed/10880960" } ] }, { "title": "Cloning and functional expression of ATA1, a subtype of amino acid transporter A, from human placenta.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Wang H, Huang W, Sugawara M, Devoe LD, Leibach FH, Prasad PD, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10891391", "url": "https://glygen.org/publication/PubMed/10891391" } ] }, { "title": "The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine.", "journal": "The Biochemical journal", "date": "2000", "authors": "Broer A, Wagner CA, Lang F, Broer S", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10903140", "url": "https://glygen.org/publication/PubMed/10903140" } ] }, { "title": "CD147 is tightly associated with lactate transporters MCT1 and MCT4 and facilitates their cell surface expression.", "journal": "The EMBO journal", "date": "2000", "authors": "Kirk P, Wilson MC, Heddle C, Brown MH, Barclay AN, Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "10921872", "url": "https://glygen.org/publication/PubMed/10921872" } ] }, { "title": "Primary structure, functional characteristics and tissue expression pattern of human ATA2, a subtype of amino acid transport system A.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Hatanaka T, Huang W, Wang H, Sugawara M, Prasad PD, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10930503", "url": "https://glygen.org/publication/PubMed/10930503" } ] }, { "title": "Distinct domains of CD98hc regulate integrins and amino acid transport.", "journal": "The Journal of biological chemistry", "date": "2001-03-23", "authors": "Fenczik C A, Zent R, Dellos M, Calderwood D A, Satriano J, Kelly C, Ginsberg M H", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11121428", "url": "https://glygen.org/publication/PubMed/11121428" } ] }, { "title": "Structure, function, and tissue expression pattern of human SN2, a subtype of the amino acid transport system N.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Nakanishi T, Sugawara M, Huang W, Martindale RG, Leibach FH, Ganapathy ME, Prasad PD, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11243884", "url": "https://glygen.org/publication/PubMed/11243884" } ] }, { "title": "Expression cloning of a Na+-independent aromatic amino acid transporter with structural similarity to H+/monocarboxylate transporters.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kim DK, Kanai Y, Chairoungdua A, Matsuo H, Cha SH, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11278508", "url": "https://glygen.org/publication/PubMed/11278508" } ] }, { "title": "Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2 requires different domains.", "journal": "The Biochemical journal", "date": "2001", "authors": "Broer A, Friedrich B, Wagner CA, Fillon S, Ganapathy V, Lang F, Broer S", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11311135", "url": "https://glygen.org/publication/PubMed/11311135" } ] }, { "title": "Human cystinuria-related transporter: localization and functional characterization.", "journal": "Kidney international", "date": "2001", "authors": "Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11318953", "url": "https://glygen.org/publication/PubMed/11318953" } ] }, { "title": "Evidence for the transport of neutral as well as cationic amino acids by ATA3, a novel and liver-specific subtype of amino acid transport system A.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Hatanaka T, Huang W, Ling R, Prasad PD, Sugawara M, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11342143", "url": "https://glygen.org/publication/PubMed/11342143" } ] }, { "title": "Role of the System L permease LAT1 in amino acid and iodothyronine transport in placenta.", "journal": "The Biochemical journal", "date": "2001-06-15", "authors": "Ritchie J W, Taylor P M", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11389679", "url": "https://glygen.org/publication/PubMed/11389679" } ] }, { "title": "Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2001", "authors": "Bassi MT, Gasol E, Manzoni M, Pineda M, Riboni M, Martin R, Zorzano A, Borsani G, Palacin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11417227", "url": "https://glygen.org/publication/PubMed/11417227" } ] }, { "title": "Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines.", "journal": "Biochimica et biophysica acta", "date": "2001-10-01", "authors": "Yanagida O, Kanai Y, Chairoungdua A, Kim D K, Segawa H, Nii T, Cha S H, Matsuo H, Fukushima J, Fukasawa Y, Tani Y, Taketani Y, Uchino H, Kim J Y, Inatomi J, Okayasu I, Miyamoto K, Takeda E, Goya T, Endou H", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11557028", "url": "https://glygen.org/publication/PubMed/11557028" } ] }, { "title": "Thyroid hormone transport by the heterodimeric human system L amino acid transporter.", "journal": "Endocrinology", "date": "2001-10", "authors": "Friesema E C, Docter R, Moerings E P, Verrey F, Krenning E P, Hennemann G, Visser T J", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11564694", "url": "https://glygen.org/publication/PubMed/11564694" } ] }, { "title": "Human cationic amino acid transporter hCAT-3 is preferentially expressed in peripheral tissues.", "journal": "Biochemistry", "date": "2001", "authors": "Vekony N, Wolf S, Boissel JP, Gnauert K, Closs EI", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11591158", "url": "https://glygen.org/publication/PubMed/11591158" } ] }, { "title": "Beta1 integrins show specific association with CD98 protein in low density membranes.", "journal": "BMC biochemistry", "date": "2001", "authors": "Kolesnikova TV, Mannion BA, Berditchevski F, Hemler ME", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11696247", "url": "https://glygen.org/publication/PubMed/11696247" } ] }, { "title": "Fluorescence resonance energy transfer studies on the interaction between the lactate transporter MCT1 and CD147 provide information on the topology and stoichiometry of the complex in situ.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wilson MC, Meredith D, Halestrap AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "11719518", "url": "https://glygen.org/publication/PubMed/11719518" } ] }, { "title": "Expression and regulation of 4F2hc and hLAT1 in human trophoblasts.", "journal": "American journal of physiology. Cell physiology", "date": "2002-01", "authors": "Okamoto Yoko, Sakata Masahiro, Ogura Kazuhiro, Yamamoto Toshiya, Yamaguchi Masaaki, Tasaka Keiichi, Kurachi Hirohisa, Tsurudome Masato, Murata Yuji", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11742812", "url": "https://glygen.org/publication/PubMed/11742812" } ] }, { "title": "The human T-type amino acid transporter-1: characterization, gene organization, and chromosomal location.", "journal": "Genomics", "date": "2002", "authors": "Kim DK, Kanai Y, Matsuo H, Kim JY, Chairoungdua A, Kobayashi Y, Enomoto A, Cha SH, Goya T, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "11827462", "url": "https://glygen.org/publication/PubMed/11827462" } ] }, { "title": "Cluster analysis of an extensive human breast cancer cell line protein expression map database.", "journal": "Proteomics", "date": "2002", "authors": "Harris RA, Yang A, Stein RC, Lucy K, Brusten L, Herath A, Parekh R, Waterfield MD, O'Hare MJ, Neville MA, Page MJ, Zvelebil MJ", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "11840567", "url": "https://glygen.org/publication/PubMed/11840567" } ] }, { "title": "Active site residues of cyclophilin A are crucial for its signaling activity via CD147.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yurchenko V, Zybarth G, O'Connor M, Dai WW, Franchin G, Hao T, Guo H, Hung HC, Toole B, Gallay P, Sherry B, Bukrinsky M", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "11943775", "url": "https://glygen.org/publication/PubMed/11943775" } ] }, { "title": "Kynurenine formamidase: determination of primary structure and modeling-based prediction of tertiary structure and catalytic triad.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Pabarcus MK, Casida JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "12007602", "url": "https://glygen.org/publication/PubMed/12007602" } ] }, { "title": "Transport of a neurotoxicant by molecular mimicry: the methylmercury-L-cysteine complex is a substrate for human L-type large neutral amino acid transporter (LAT) 1 and LAT2.", "journal": "The Biochemical journal", "date": "2002", "authors": "Simmons-Willis TA, Koh AS, Clarkson TW, Ballatori N", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "12117417", "url": "https://glygen.org/publication/PubMed/12117417" } ] }, { "title": "Identification and expression of a cDNA encoding human alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase (ACMSD). A key enzyme for the tryptophan-niacine pathway and `quinolinate hypothesis`.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fukuoka S, Ishiguro K, Yanagihara K, Tanabe A, Egashira Y, Sanada H, Shibata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "12140278", "url": "https://glygen.org/publication/PubMed/12140278" } ] }, { "title": "Lysine uptake by cloned hCAT-2B: comparison with hCAT-1 and with trophoblast surface membranes.", "journal": "The Journal of membrane biology", "date": "2002", "authors": "Furesz TC, Heath-Monnig E, Kamath SG, Smith CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "12202949", "url": "https://glygen.org/publication/PubMed/12202949" } ] }, { "title": "Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E, Tachampa K, Anzai N, Iribe Y, Endou H", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "12225859", "url": "https://glygen.org/publication/PubMed/12225859" } ] }, { "title": "Molecular cloning and characterization of CT120, a novel membrane-associated gene involved in amino acid transport and glutathione metabolism.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "He X, Di Y, Li J, Xie Y, Tang Y, Zhang F, Wei L, Zhang Y, Qin W, Huo K, Li Y, Wan D, Gu J", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "12270127", "url": "https://glygen.org/publication/PubMed/12270127" } ] }, { "title": "Structure, function and immunolocalization of a proton-coupled amino acid transporter (hPAT1) in the human intestinal cell line Caco-2.", "journal": "The Journal of physiology", "date": "2003", "authors": "Chen Z, Fei YJ, Anderson CM, Wake KA, Miyauchi S, Huang W, Thwaites DT, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "12527723", "url": "https://glygen.org/publication/PubMed/12527723" } ] }, { "title": "The immunoglobulin-superfamily molecule basigin is a binding protein for oligomannosidic carbohydrates: an anti-idiotypic approach.", "journal": "Journal of neurochemistry", "date": "2003", "authors": "Heller M, von der Ohe M, Kleene R, Mohajeri MH, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "12558975", "url": "https://glygen.org/publication/PubMed/12558975" } ] }, { "title": "CD98 and intracellular adhesion molecule I regulate the activity of amino acid transporter LAT-2 in polarized intestinal epithelia.", "journal": "The Journal of biological chemistry", "date": "2003-06-27", "authors": "Liu Xia, Charrier Laetitia, Gewirtz Andrew, Sitaraman Shanthi, Merlin Didier", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "12716892", "url": "https://glygen.org/publication/PubMed/12716892" } ] }, { "title": "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.", "journal": "Nature biotechnology", "date": "2003", "authors": "Zhang H, Li XJ, Martin DB, Aebersold R", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" } ] }, { "title": "A cluster of proton/amino acid transporter genes in the human and mouse genomes.", "journal": "Genomics", "date": "2003", "authors": "Boll M, Foltz M, Rubio-Aliaga I, Daniel H", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "12809675", "url": "https://glygen.org/publication/PubMed/12809675" } ] }, { "title": "Identification of a novel system L amino acid transporter structurally distinct from heterodimeric amino acid transporters.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Babu E, Kanai Y, Chairoungdua A, Kim DK, Iribe Y, Tangtrongsup S, Jutabha P, Li Y, Ahmed N, Sakamoto S, Anzai N, Nagamori S, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "12930836", "url": "https://glygen.org/publication/PubMed/12930836" } ] }, { "title": "The transamination of kynurenine.", "journal": "The Journal of biological chemistry", "date": "1953", "authors": "MILLER IL, TSUCHIDA M, ADELBERG EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "13069505", "url": "https://glygen.org/publication/PubMed/13069505" } ] }, { "title": "Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium.", "journal": "Exp. Physiol.", "date": "2003", "authors": "Arancibia-Garavilla Yerko, Toledo Fernando, Casanello Paola, Sobrevia Luis", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "14603368", "url": "https://glygen.org/publication/PubMed/14603368" } ] }, { "title": "Caveolin-1 regulates matrix metalloproteinases-1 induction and CD147/EMMPRIN cell surface clustering.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tang W, Hemler ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "14707126", "url": "https://glygen.org/publication/PubMed/14707126" } ] }, { "title": "Membrane topology of system xc- light subunit reveals a re-entrant loop with substrate-restricted accessibility.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gasol E, Jimenez-Vidal M, Chillaron J, Zorzano A, Palacin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "15151999", "url": "https://glygen.org/publication/PubMed/15151999" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Rossi F, Han Q, Li J, Li J, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "15364907", "url": "https://glygen.org/publication/PubMed/15364907" } ] }, { "title": "CD98hc (SLC3A2) mediates integrin signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005-01-11", "authors": "Feral Chloe C, Nishiya Naoyuki, Fenczik Csilla A, Stuhlmann Heidi, Slepak Marina, Ginsberg Mark H", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "15625115", "url": "https://glygen.org/publication/PubMed/15625115" } ] }, { "title": "Identification of LAT4, a novel amino acid transporter with system L activity.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Bodoy S, Martin L, Zorzano A, Palacin M, Estevez R, Bertran J", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "15659399", "url": "https://glygen.org/publication/PubMed/15659399" } ] }, { "title": "Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols.", "journal": "The Journal of biological chemistry", "date": "2005-05-20", "authors": "Li Sheng, Whorton A Richard", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "15769744", "url": "https://glygen.org/publication/PubMed/15769744" } ] }, { "title": "Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.", "journal": "Human mutation", "date": "2005", "authors": "Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5660862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5660862" } ], "reference": [ { "type": "PubMed", "id": "15776427", "url": "https://glygen.org/publication/PubMed/15776427" } ] }, { "title": "Metabolic activation-related CD147-CD98 complex.", "journal": "Molecular & cellular proteomics : MCP", "date": "2005", "authors": "Xu D, Hemler ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "15901826", "url": "https://glygen.org/publication/PubMed/15901826" } ] }, { "title": "Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule.", "journal": "Archives of pharmacal research", "date": "2005", "authors": "Park SY, Kim JK, Kim IJ, Choi BK, Jung KY, Lee S, Park KJ, Chairoungdua A, Kanai Y, Endou H, Kim DK", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "15918515", "url": "https://glygen.org/publication/PubMed/15918515" } ] }, { "title": "Cell surface expression of CD147/EMMPRIN is regulated by cyclophilin 60.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Pushkarsky T, Yurchenko V, Vanpouille C, Brichacek B, Vaisman I, Hatakeyama S, Nakayama KI, Sherry B, Bukrinsky MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "15946952", "url": "https://glygen.org/publication/PubMed/15946952" } ] }, { "title": "L-type amino acid transporter 1-mediated L-leucine transport at the inner blood-retinal barrier.", "journal": "Investigative ophthalmology & visual science", "date": "2005-07", "authors": "Tomi Masatoshi, Mori Masahiko, Tachikawa Masanori, Katayama Kazunori, Terasaki Tetsuya, Hosoya Ken-ichi", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "15980244", "url": "https://glygen.org/publication/PubMed/15980244" } ] }, { "title": "Mechanisms regulating tissue-specific polarity of monocarboxylate transporters and their chaperone CD147 in kidney and retinal epithelia.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Deora AA, Philp N, Hu J, Bok D, Rodriguez-Boulan E", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "16260747", "url": "https://glygen.org/publication/PubMed/16260747" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family.", "journal": "Gene", "date": "2006", "authors": "Yu P, Li Z, Zhang L, Tagle DA, Cai T", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "16376499", "url": "https://glygen.org/publication/PubMed/16376499" } ] }, { "title": "Crystal structure of human indoleamine 2,3-dioxygenase: catalytic mechanism of O2 incorporation by a heme-containing dioxygenase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Sugimoto H, Oda S, Otsuki T, Hino T, Yoshida T, Shiro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "16477023", "url": "https://glygen.org/publication/PubMed/16477023" } ] }, { "title": "L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors.", "journal": "Int. J. Cancer", "date": "2006", "authors": "Nawashiro Hiroshi, Otani Naoki, Shinomiya Nariyoshi, Fukui Shinji, Ooigawa Hidetoshi, Shima Katsuji, Matsuo Hirotaka, Kanai Yoshikatsu, Endou Hitoshi", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "16496379", "url": "https://glygen.org/publication/PubMed/16496379" } ] }, { "title": "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.", "journal": "J. Proteome Res.", "date": "2006", "authors": "Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "17081065", "url": "https://glygen.org/publication/PubMed/17081065" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "F5H0E2", "url": "https://www.uniprot.org/uniprot/F5H0E2" }, { "database": "iPTMnet", "id": "P08195-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Novel tryptophan catabolic enzyme IDO2 is the preferred biochemical target of the antitumor indoleamine 2,3-dioxygenase inhibitory compound D-1-methyl-tryptophan.", "journal": "Cancer research", "date": "2007", "authors": "Metz R, Duhadaway JB, Kamasani U, Laury-Kleintop L, Muller AJ, Prendergast GC", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "17671174", "url": "https://glygen.org/publication/PubMed/17671174" } ] }, { "title": "The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Fort J, de la Ballina LR, Burghardt HE, Ferrer-Costa C, Turnay J, Ferrer-Orta C, Uson I, Zorzano A, Fernandez-Recio J, Orozco M, Lizarbe MA, Fita I, Palacin M", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "17724034", "url": "https://glygen.org/publication/PubMed/17724034" } ] }, { "title": "LFA-1-mediated leukocyte adhesion regulated by interaction of CD43 with LFA-1 and CD147.", "journal": "Molecular immunology", "date": "2008", "authors": "Khunkaewla P, Schiller HB, Paster W, Leksa V, Cermak L, Andera L, Horejsi V, Stockinger H", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "17996943", "url": "https://glygen.org/publication/PubMed/17996943" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase II.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Han Q, Robinson H, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "18056995", "url": "https://glygen.org/publication/PubMed/18056995" } ] }, { "title": "Amino acid transport across mammalian intestinal and renal epithelia.", "journal": "Physiological reviews", "date": "2008", "authors": "Broer S", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "18195088", "url": "https://glygen.org/publication/PubMed/18195088" } ] }, { "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": "P08195-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "P08195-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Ecto-phosphorylation of CD98 regulates cell-cell interactions.", "journal": "PloS one", "date": "2008", "authors": "Nguyen HT, Dalmasso G, Yan Y, Obertone TS, Sitaraman SV, Merlin D", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "reference": [ { "type": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" } ] }, { "title": "A strategy for precise and large scale identification of core fucosylated glycoproteins.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Jia W, Lu Z, Fu Y, Wang HP, Wang LH, Chi H, Yuan ZF, Zheng ZB, Song LN, Han HH, Liang YM, Wang JL, Cai Y, Zhang YK, Deng YL, Ying WT, He SM, Qian XH", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "19139490", "url": "https://glygen.org/publication/PubMed/19139490" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "CD98hc (SLC3A2), a novel marker in renal cell cancer.", "journal": "Eur. J. Clin. Invest.", "date": "2009", "authors": "Prager G W, Poettler M, Schmidinger M, Mazal P R, Susani M, Zielinski C C, Haitel A", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "19292886", "url": "https://glygen.org/publication/PubMed/19292886" } ] }, { "title": "Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K.", "journal": "Journal of medicinal chemistry", "date": "2009", "authors": "Han Q, Robinson H, Cai T, Tagle DA, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "19338303", "url": "https://glygen.org/publication/PubMed/19338303" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "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": "P08195-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P08195-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "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": "iPTMnet", "id": "P08195-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Pillai SM, Meredith D", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "21097500", "url": "https://glygen.org/publication/PubMed/21097500" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "O-GlcNAc-specific antibody CTD110.6 cross-reacts with N-GlcNAc2-modified proteins induced under glucose deprivation.", "journal": "PloS one", "date": "2011", "authors": "Isono T", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "21526146", "url": "https://glygen.org/publication/PubMed/21526146" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Discovery of SLC3A2 cell membrane protein as a potential gastric cancer biomarker: implications in molecular imaging.", "journal": "J. Proteome Res.", "date": "2012", "authors": "Yang Yixuan, Toy Weiyi, Choong Lee Yee, Hou Peiling, Ashktorab Hassan, Smoot Duane T, Yeoh Khay Guan, Lim Yoon Pin", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "23116296", "url": "https://glygen.org/publication/PubMed/23116296" } ] }, { "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": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "iPTMnet", "id": "P08195", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08195" } ], "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": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Porcelli V, Fiermonte G, Longo A, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "24652292", "url": "https://glygen.org/publication/PubMed/24652292" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "F5H0E2", "url": "https://www.uniprot.org/uniprot/F5H0E2" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "LAPTM4b recruits the LAT1-4F2hc Leu transporter to lysosomes and promotes mTORC1 activation.", "journal": "Nature communications", "date": "2015-05-22", "authors": "Milkereit Ruth, Persaud Avinash, Vanoaica Liviu, Guetg Adriano, Verrey Francois, Rotin Daniela", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "25998567", "url": "https://glygen.org/publication/PubMed/25998567" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "SLC3A2 is upregulated in human osteosarcoma and promotes tumor growth through the PI3K/Akt signaling pathway.", "journal": "Oncol. Rep.", "date": "2017", "authors": "Zhu B, Cheng D, Hou L, Zhou S, Ying T, Yang Q", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "28350098", "url": "https://glygen.org/publication/PubMed/28350098" } ] }, { "title": "Large-scale intact glycopeptide identification by Mascot database search.", "journal": "Scientific reports", "date": "2018", "authors": "Bollineni RC, Koehler CJ, Gislefoss RE, Anonsen JH, Thiede B", "evidence": [ { "database": "GlyConnect", "id": "984", "url": "https://glyconnect.expasy.org/browser/proteins/984" } ], "reference": [ { "type": "PubMed", "id": "29391424", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "984", "url": "https://glyconnect.expasy.org/browser/proteins/984" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Hepatitis C Virus Modulates Solute carrier family 3 member 2 for Viral Propagation.", "journal": "Scientific reports", "date": "2018-10-19", "authors": "Nguyen Ngan N T, Lim Yun-Sook, Nguyen Lap P, Tran Si C, Luong Trang T D, Nguyen Tram T T, Pham Hang T, Mai Han N, Choi Jae-Woong, Han Sang-Seop, Hwang Soon B", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "30341327", "url": "https://glygen.org/publication/PubMed/30341327" } ] }, { "title": "Primary structure of the human 4F2 antigen heavy chain predicts a transmembrane protein with a cytoplasmic NH2 terminus.", "journal": "J. Biol. Chem.", "date": "1987", "authors": "Teixeira S, Di Grandi S, K\u00fchn L C", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "3036867", "url": "https://glygen.org/publication/PubMed/3036867" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Structure of the human LAT1-4F2hc heteromeric amino acid transporter complex.", "journal": "Nature", "date": "2019", "authors": "Yan R, Zhao X, Lei J, Zhou Q", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "30867591", "url": "https://glygen.org/publication/PubMed/30867591" } ] }, { "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": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation.", "journal": "Mol. Cell. Biol.", "date": "1988", "authors": "Gottesdiener KM, Karpinski BA, Lindsten T, Strominger JL, Jones NH, Thompson CB, Leiden JM", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "3265470", "url": "https://glygen.org/publication/PubMed/3265470" } ] }, { "title": "The Heavy Chain 4F2hc Modulates the Substrate Affinity and Specificity of the Light Chains LAT1 and LAT2.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Kantipudi S, Jeckelmann JM, Ucurum Z, Bosshart PD, Fotiadis D", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "33066406", "url": "https://glygen.org/publication/PubMed/33066406" } ] }, { "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": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Structural insight into the substrate recognition and transport mechanism of the human LAT2-4F2hc complex.", "journal": "Cell discovery", "date": "2020-11-10", "authors": "Yan Renhong, Zhou Jiayao, Li Yaning, Lei Jianlin, Zhou Qiang", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "33298890", "url": "https://glygen.org/publication/PubMed/33298890" } ] }, { "title": "Mechanism of substrate transport and inhibition of the human LAT1-4F2hc amino acid transporter.", "journal": "Cell discovery", "date": "2021-03-23", "authors": "Yan Renhong, Li Yaning, M\u00fcller Jennifer, Zhang Yuanyuan, Singer Simon, Xia Lu, Zhong Xinyue, Gertsch J\u00fcrg, Altmann Karl-Heinz, Zhou Qiang", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "33758168", "url": "https://glygen.org/publication/PubMed/33758168" } ] }, { "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": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Plasmodium vivax binds host CD98hc (SLC3A2) to enter immature red blood cells.", "journal": "Nature microbiology", "date": "2021", "authors": "Malleret B, El Sahili A, Tay MZ, Carissimo G, Ong ASM, Novera W, Lin J, Suwanarusk R, Kosaisavee V, Chu TTT, Sinha A, Howland SW, Fan Y, Gruszczyk J, Tham WH, Colin Y, Maurer-Stroh S, Snounou G, Ng LFP, Chan JKY, Chacko AM, Lescar J, Chandramohanadas R, Nosten F, Russell B, Renia L", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "34294905", "url": "https://glygen.org/publication/PubMed/34294905" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Quackenbush E, Clabby M, Gottesdiener KM, Barbosa J, Jones NH, Strominger JL, Speck S, Leiden JM", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "3476959", "url": "https://glygen.org/publication/PubMed/3476959" } ] }, { "title": "Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Lumadue J A, Glick A B, Ruddle F H", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "3480538", "url": "https://glygen.org/publication/PubMed/3480538" } ] }, { "title": "Molecular basis for redox control by the human cystine/glutamate antiporter system xc.", "journal": "Nature communications", "date": "2021-12-08", "authors": "Parker Joanne L, Deme Justin C, Kolokouris Dimitrios, Kuteyi Gabriel, Biggin Philip C, Lea Susan M, Newstead Simon", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "34880232", "url": "https://glygen.org/publication/PubMed/34880232" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "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": "P08195", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08195" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "The structure of erastin-bound xCT-4F2hc complex\u00a0reveals molecular mechanisms underlying erastin-induced ferroptosis.", "journal": "Cell research", "date": "2022-07", "authors": "Yan Renhong, Xie Enjun, Li Yaning, Li Jin, Zhang Yuanyuan, Chi Ximin, Hu Xueping, Xu Lei, Hou Tingjun, Stockwell Brent R, Min Junxia, Zhou Qiang, Wang Fudi", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195#ptm_processing" }, { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "35352032", "url": "https://glygen.org/publication/PubMed/35352032" } ] }, { "title": "Polarity protein SCRIB interacts with SLC3A2 to regulate proliferation and tamoxifen resistance in ER+ breast cancer.", "journal": "Communications biology", "date": "2022", "authors": "Saito Y, Matsuda S, Ohnishi N, Endo K, Ashitani S, Ohishi M, Ueno A, Tomita M, Ueda K, Soga T, Muthuswamy SK", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" } ], "reference": [ { "type": "PubMed", "id": "35501367", "url": "https://glygen.org/publication/PubMed/35501367" } ] }, { "title": "HCMV-miR-US33-5p promotes apoptosis of aortic vascular smooth muscle cells by targeting EPAS1/SLC3A2 pathway.", "journal": "Cellular & molecular biology letters", "date": "2022", "authors": "Dong J, Li S, Lu Z, Du P, Liu G, Li M, Ma C, Zhou J, Bao J", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" } ], "reference": [ { "type": "PubMed", "id": "35596131", "url": "https://glygen.org/publication/PubMed/35596131" } ] }, { "title": "N-glycosylation is crucial for trafficking and stability of SLC3A2 (CD98).", "journal": "Scientific reports", "date": "2022-08-26", "authors": "Console Lara, Scalise Mariafrancesca, Salerno Simona, Scanga Raffaella, Giudice Deborah, De Bartolo Loredana, Tonazzi Annamaria, Indiveri Cesare", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] }, { "title": "Identification of CD98 as a Novel Biomarker for HIV-1 Permissiveness and Latent Infection.", "journal": "mBio", "date": "2022-10-10", "authors": "Zhang Wanying, Zhou Mo, Chen Cancan, Wu Shiyu, Wang Lilin, Xia Baijin, Liu Jun, Ma Xiancai, Pan Ting, Zhang Hui, Li Linghua, Liu Bingfeng", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" } ], "reference": [ { "type": "PubMed", "id": "36214569", "url": "https://glygen.org/publication/PubMed/36214569" } ] }, { "title": "SLC3A2 promotes tumor-associated macrophage polarization through metabolic reprogramming in lung cancer.", "journal": "Cancer science", "date": "2023-02-15", "authors": "Li Zhuan, Chen Songming, He Xiang, Gong Siyuan, Sun Lunquan, Weng Liang", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" } ], "reference": [ { "type": "PubMed", "id": "36793241", "url": "https://glygen.org/publication/PubMed/36793241" } ] }, { "title": "CD98 regulates the phosphorylation of HER2 and a bispecific anti-HER2/CD98 antibody inhibits the growth signal of human breast cancer cells.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2023-02-21", "authors": "Yamasaki Akitaka, Maruyama-Takahashi Kumiko, Nishida Kento, Okazaki Shogo, Okita Kouki, Akiyama Yasutoshi, Suzuki Hideaki, Endo Yuichi, Masuko Kazue, Masuko Takashi, Tomioka Yoshihisa", "evidence": [ { "database": "RefSeq", "id": "NP_001012680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012680" } ], "reference": [ { "type": "PubMed", "id": "36811310", "url": "https://glygen.org/publication/PubMed/36811310" } ] }, { "title": "Molecular cloning and functional expression of human 3-hydroxyanthranilic-acid dioxygenase.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Malherbe P, Kohler C, Da Prada M, Lang G, Kiefer V, Schwarcz R, Lahm HW, Cesura AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "7514594", "url": "https://glygen.org/publication/PubMed/7514594" } ] }, { "title": "Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase.", "journal": "FEBS letters", "date": "1995", "authors": "Perry S, Harries H, Scholfield C, Lock T, King L, Gibson G, Goldfarb P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "7883047", "url": "https://glygen.org/publication/PubMed/7883047" } ] }, { "title": "Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Arriza JL, Kavanaugh MP, Fairman WA, Wu YN, Murdoch GH, North RA, Amara SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8101838", "url": "https://glygen.org/publication/PubMed/8101838" } ] }, { "title": "Purification and characterization of kynurenine aminotransferase I from human brain.", "journal": "Journal of neurochemistry", "date": "1994", "authors": "Baran H, Okuno E, Kido R, Schwarcz R", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "8294935", "url": "https://glygen.org/publication/PubMed/8294935" } ] }, { "title": "Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Shafqat S, Tamarappoo BK, Kilberg MS, Puranam RS, McNamara JO, Guadano-Ferraz A, Fremeau RT Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8340364", "url": "https://glygen.org/publication/PubMed/8340364" } ] }, { "title": "Sequence of human tryptophan 2,3-dioxygenase (TDO2): presence of a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat.", "journal": "Genomics", "date": "1995", "authors": "Comings DE, Muhleman D, Dietz G, Sherman M, Forest GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "8666386", "url": "https://glygen.org/publication/PubMed/8666386" } ] }, { "title": "Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Kekuda R, Prasad PD, Fei YJ, Torres-Zamorano V, Sinha S, Yang-Feng TL, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8702519", "url": "https://glygen.org/publication/PubMed/8702519" } ] }, { "title": "ASCT-1 is a neutral amino acid exchanger with chloride channel activity.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zerangue N, Kavanaugh MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8910405", "url": "https://glygen.org/publication/PubMed/8910405" } ] }, { "title": "Human cationic amino acid transporters hCAT-1, hCAT-2A, and hCAT-2B: three related carriers with distinct transport properties.", "journal": "Biochemistry", "date": "1997", "authors": "Closs EI, Graf P, Habermeier A, Cunningham JM, Forstermann U", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "9174363", "url": "https://glygen.org/publication/PubMed/9174363" } ] }, { "title": "Cloning and recombinant expression of rat and human kynureninase.", "journal": "FEBS letters", "date": "1997", "authors": "Toma S, Nakamura M, Tone S, Okuno E, Kido R, Breton J, Avanzi N, Cozzi L, Speciale C, Mostardini M, Gatti S, Benatti L", "evidence": [ { "database": "Reactome", "id": "R-HSA-71240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240" } ], "reference": [ { "type": "PubMed", "id": "9180257", "url": "https://glygen.org/publication/PubMed/9180257" } ] }, { "title": "Generation of monoclonal antibodies to integrin-associated proteins. Evidence that alpha3beta1 complexes with EMMPRIN/basigin/OX47/M6.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Berditchevski F, Chang S, Bodorova J, Hemler ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-210991", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991" } ], "reference": [ { "type": "PubMed", "id": "9360995", "url": "https://glygen.org/publication/PubMed/9360995" } ] }, { "title": "Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family.", "journal": "Nature", "date": "1998", "authors": "Mastroberardino L, Spindler B, Pfeiffer R, Skelly PJ, Loffing J, Shoemaker CB, Verrey F", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "9751058", "url": "https://glygen.org/publication/PubMed/9751058" } ] }, { "title": "Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Torrents D, Estevez R, Pineda M, Fernandez E, Lloberas J, Shi YB, Zorzano A, Palacin M", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "reference": [ { "type": "PubMed", "id": "9829974", "url": "https://glygen.org/publication/PubMed/9829974" } ] }, { "title": "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family.", "journal": "The EMBO journal", "date": "1999", "authors": "Pfeiffer R, Rossier G, Spindler B, Meier C, Kuhn L, Verrey F", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "9878049", "url": "https://glygen.org/publication/PubMed/9878049" } ] } ], "pathway": [ { "id": "hsa:6520", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6520", "resource": "KEGG Pathway" }, { "id": "R-HSA-210991", "name": "Basigin interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210991", "resource": "Reactome", "description": "Basigin interactions" }, { "id": "R-HSA-352230", "name": "Amino acid transport across the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230", "resource": "Reactome", "description": "Amino acid transport across the plasma membrane" }, { "id": "R-HSA-5660862", "name": "Defective SLC7A7 causes lysinuric protein intolerance (LPI)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5660862", "resource": "Reactome", "description": "Defective SLC7A7 causes lysinuric protein intolerance (LPI)" }, { "id": "R-HSA-71240", "name": "Tryptophan catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71240", "resource": "Reactome", "description": "Tryptophan catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P10852-1", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "Slc3a2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSQDTEVDMKDVELNELEPEKQPMNAADGAAAGEKNGLVKIKVAEDETEAGVKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPVQRWWHKGALYRIGDLQAFVGRDAGGIAGLKSHLEYLSTLKVKGLVLGPIHKNQKDEINETDLKQINPTLGSQEDFKDLLQSAKKKSIHIILDLTPNYQGQNAWFLPAQADIVATKMKEALSSWLQDGVDGFQFRDVGKLMNAPLYLAEWQNITKNLSEDRLLIAGTESSDLQQIVNILESTSDLLLTSSYLSNSTFTGERTESLVTRFLNATGSQWCSWSVSQAGLLADFIPDHLLRLYQLLLFTLPGTPVFSYGDELGLQGALPGQPAKAPLMPWNESSIFHIPRPVSLNMTVKGQNEDPGSLLTQFRRLSDLRGKERSLLHGDFHALSSSPDLFSYIRHWDQNERYLVVLNFRDSGRSARLGASNLPAGISLPASAKLLLSTDSARQSREEDTSLKLENLSLNPYEGLLLQFPFVA", "length": 526 }, "evidence": [ { "id": "45917230", "url": "http://www.informatics.jax.org/homology/45917230", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q794F9-1", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "Slc3a2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSQDTEVDMKDVELNELEPEKQPMNAADGAAAGEKNGLVKIKVAEDEAEAGVKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPVQRWWHKGALYRIGDLQAFVGPEARGIAGLKNHLEYLSTLKVKGLVLGPIHKNQKDEVNETDLKQIDPDLGSQEDFKDLLQSAKKKSIHIILDLTPNYKGQNAWFLPPQADIVATKMKEALSSWLQDGVDGFQVRDVGKLANASLYLAEWQNITKNFSEDRLLIAGTASSDLQQIVNILESTSDLLLTSSYLSQPVFTGEHAELLVIKYLNATGSRWCSWSVSQAGLLTSFIPAQFLRLYQLLLFTLPGTPVFSYGDELGLQAVALPGQPMEAPFMLWNESSNSQTSSPVSLNMTVKGQNEDPGSLLTQFRRLSDLRGKERSLLHGDFDALSSSSGLFSYVRHWDQNERYLVVLNFQDVGLSARVGASNLPAGISLPASANLLLSTDSTRLSREEGTSLSLENLSLNPYEGLLLQFPFVA", "length": 527 }, "evidence": [ { "id": "45917230", "url": "http://www.informatics.jax.org/homology/45917230", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 18, "go_terms": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "leucine transport", "id": "GO:0015820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015820", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "proline transport", "id": "GO:0015824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015824", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "L-leucine import across plasma membrane", "id": "GO:1903801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903801", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "tryptophan transport", "id": "GO:0015827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015827", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "viral entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "thyroid hormone transport", "id": "GO:0070327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070327", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "tyrosine transport", "id": "GO:0015828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015828", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "phenylalanine transport", "id": "GO:0015823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015823", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "isoleucine transport", "id": "GO:0015818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015818", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "valine transport", "id": "GO:0015829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015829", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "leucine import across plasma membrane", "id": "GO:0098713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098713", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "L-alanine import across plasma membrane", "id": "GO:1904273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904273", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "methionine transport", "id": "GO:0015821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015821", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "L-histidine transport", "id": "GO:1902024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902024", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 14, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "amino acid transport complex", "id": "GO:1990184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990184", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "apical pole of neuron", "id": "GO:0044225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044225", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 13, "go_terms": [ { "name": "L-alanine transmembrane transporter activity", "id": "GO:0015180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015180", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "neutral L-amino acid transmembrane transporter activity", "id": "GO:0015175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015175", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "calcium:sodium antiporter activity", "id": "GO:0005432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005432", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "aromatic amino acid transmembrane transporter activity", "id": "GO:0015173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015173", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "L-leucine transmembrane transporter activity", "id": "GO:0015190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015190", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "exogenous protein binding", "id": "GO:0140272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140272", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" }, { "name": "neutral L-amino acid secondary active transmembrane transporter activity", "id": "GO:0005294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005294", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 365, "end_pos": 367, "annotation": "n_glycosylation_sequon" }, { "start_pos": 381, "end_pos": 383, "annotation": "n_glycosylation_sequon" }, { "start_pos": 424, "end_pos": 426, "annotation": "n_glycosylation_sequon" }, { "start_pos": 506, "end_pos": 508, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated; N-glycosylation is crucial for trafficking and stability of SLC3A2 to the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] }, { "annotation": "Phosphorylation on Ser-406; Ser-408 or Ser-410 and on Ser-527 or Ser-531 by ecto-protein kinases favors heterotypic cell-cell interactions.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprot/P08195" }, { "database": "PubMed", "id": "19065266", "url": "https://glygen.org/publication/PubMed/19065266" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 365, 381, 395, 424, 506 ], "o_linked_sites": [], "snv_sites": [ 22, 128, 160, 242, 285, 307, 354, 365, 381, 383, 415, 430, 506 ], "glycation_sites": [], "phosphorylation_sites": [ 2, 9, 103, 106, 134, 165, 301, 312, 406, 408, 410, 527, 531, 607 ], "sequon_annotation_sites": [ { "start_pos": 365, "end_pos": 367 }, { "start_pos": 381, "end_pos": 383 }, { "start_pos": 424, "end_pos": 426 }, { "start_pos": 506, "end_pos": 508 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 65 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 52 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 1 }, { "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", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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": 60 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 52 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "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_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": 14 }, { "field": "total_sites", "count": 14 } ], "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": 15 }, { "field": "total_sites", "count": 13 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 13 }, { "field": "total_sites", "count": 11 } ], "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": 136 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }