{ "uniprot_canonical_ac": "O15533-1", "uniprot_ac": "O15533", "uniprot_id": "TPSN_HUMAN", "mass": { "chemical_mass": 47571.0, "monoisotopic_mass": 47571.0 }, "refseq": { "ac": "NP_003181", "name": "tapasin isoform 1 precursor", "summary": "This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181" }, "gene_names": [ { "name": "TAPBP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15533", "id": "O15533" }, { "name": "NGS17; TAPA; TPN; TPSN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181", "id": "NP_003181" }, { "name": "NGS17", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15533", "id": "O15533" }, { "name": "TAPA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15533", "id": "O15533" }, { "name": "TAPBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181", "id": "NP_003181" } ], "protein_names": [ { "name": "Tapasin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15533" }, { "name": "NGS-17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15533" }, { "name": "TAP-associated protein; NGS-17; TAP binding protein (tapasin)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181", "id": "NP_003181" }, { "name": "TAP-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15533" }, { "name": "TAP-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15533" }, { "name": "TPN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15533" }, { "name": "TPSN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15533" }, { "name": "tapasin isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181", "id": "NP_003181" } ], "function": [ { "annotation": "Exchange catalysis by tapasin exploits conserved and allele-specific features of MHC-I molecules. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181" }, { "database": "PubMed", "id": "34244493", "url": "https://glygen.org/publication/PubMed/34244493" } ] }, { "annotation": "Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner.", "evidence": [ { "database": "RefSeq", "id": "NP_003181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181" }, { "database": "PubMed", "id": "35858344", "url": "https://glygen.org/publication/PubMed/35858344" } ] }, { "annotation": "Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JH37", "url": "https://www.uniprot.org/uniprot/A0A0G2JH37#function" }, { "database": "UniProtKB", "id": "ARBA00037757", "url": "https://www.uniprot.org/uniprot/ARBA00037757#function" }, { "database": "UniProtKB", "id": "A0A0A0MT98", "url": "https://www.uniprot.org/uniprot/A0A0A0MT98#function" }, { "database": "UniProtKB", "id": "A0A8V8TQC1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQC1#function" }, { "database": "UniProtKB", "id": "A0A8V8TQC5", "url": "https://www.uniprot.org/uniprot/A0A8V8TQC5#function" }, { "database": "UniProtKB", "id": "A0A0G2JKZ1", "url": "https://www.uniprot.org/uniprot/A0A0G2JKZ1#function" }, { "database": "UniProtKB", "id": "A0A0A0MSV9", "url": "https://www.uniprot.org/uniprot/A0A0A0MSV9#function" }, { "database": "UniProtKB", "id": "A0A8V8TP19", "url": "https://www.uniprot.org/uniprot/A0A8V8TP19#function" }, { "database": "UniProtKB", "id": "A2AB90", "url": "https://www.uniprot.org/uniprot/A2AB90#function" }, { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533#function" }, { "database": "PubMed", "id": "10636848", "url": "https://glygen.org/publication/PubMed/10636848" }, { "database": "PubMed", "id": "12582157", "url": "https://glygen.org/publication/PubMed/12582157" }, { "database": "PubMed", "id": "21263072", "url": "https://glygen.org/publication/PubMed/21263072" }, { "database": "PubMed", "id": "26611325", "url": "https://glygen.org/publication/PubMed/26611325" }, { "database": "UniProtKB", "id": "A0A8V8TP24", "url": "https://www.uniprot.org/uniprot/A0A8V8TP24#function" }, { "database": "UniProtKB", "id": "C9JA35", "url": "https://www.uniprot.org/uniprot/C9JA35#function" } ] }, { "annotation": "The role of MHC I protein dynamics in tapasin and TAPBPR-assisted immunopeptidome editing. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_003181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181" }, { "database": "PubMed", "id": "34265495", "url": "https://glygen.org/publication/PubMed/34265495" } ] }, { "annotation": "This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003181" } ] } ], "disease": [ { "disease_id": "DOID:0060009", "recommended_name": { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "MHC class I deficiency", "description": "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy." }, "synonyms": [ { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "BLS, TYPE I", "description": "" }, { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "BLSI", "description": "" }, { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "HLA CLASS I DEFICIENCY", "description": "" }, { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "bare lymphocyte syndrome type I", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "MHC class I deficiency", "description": "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "BLS, type I", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "BLSI", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "Bare lymphocyte syndrome type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "HLA CLASS I deficiency", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "bare lymphocyte syndrome type I", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "bare lymphocyte syndrome, type I, due to TAP2 deficiency", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "immunodeficiency by defective expression of HLA class 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "immunodeficiency by defective expression of HLA class type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "BARE lymphocyte syndrome, type I", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "BLS type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "Bare lymphocyte syndrome, type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "Bls, type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "HLA Class 1 deficiency", "description": "" }, { "id": "MIM:604571", "resource": "MIM", "url": "https://www.omim.org/entry/604571", "name": "Bare lymphocyte syndrome 1", "description": "Bare lymphocyte syndrome 1" } ], "evidence": [ { "id": "604571", "database": "MIM", "url": "https://www.omim.org/entry/604571" } ] } ], "snv": [ { "evidence": [ { "id": "rs538568209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538568209" }, { "id": "rs538568209", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538568209" }, { "id": "rs538568209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538568209" }, { "id": "rs538568209", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs538568209#frequency_tab" }, { "id": "rs538568209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538568209" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 253, "end_pos": 253, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "6", "chr_pos": "33305099", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "N253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376210117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376210117" }, { "id": "rs376210117", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376210117" }, { "id": "rs376210117", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376210117#frequency_tab" }, { "id": "rs376210117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376210117" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 357, "end_pos": 357, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "6", "chr_pos": "33304438", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D357", "disease": [ { "disease_id": "DOID:0060009", "recommended_name": { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "MHC class I deficiency", "description": "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy." }, "synonyms": [ { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "BLS, TYPE I", "description": "" }, { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "BLSI", "description": "" }, { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "HLA CLASS I DEFICIENCY", "description": "" }, { "id": "DOID:0060009", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060009", "name": "bare lymphocyte syndrome type I", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "MHC class I deficiency", "description": "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or 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"MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "bare lymphocyte syndrome, type I, due to TAP2 deficiency", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "immunodeficiency by defective expression of HLA class 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "immunodeficiency by defective expression of HLA class type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "BARE lymphocyte syndrome, type I", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "BLS type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "Bare lymphocyte syndrome, type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "Bls, type 1", "description": "" }, { "id": "MONDO:0011476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011476", "name": "HLA Class 1 deficiency", "description": "" }, { "id": "MIM:604571", "resource": "MIM", "url": "https://www.omim.org/entry/604571", "name": "Bare lymphocyte syndrome 1", "description": "Bare lymphocyte syndrome 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1212967203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212967203" }, { "id": "rs1212967203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212967203" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 436, "end_pos": 436, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLS->NLS).", "chr_id": "6", "chr_pos": "33303984", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y436", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 115, "end_pos": 115, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes the recruitment of PDIA3, CALR and B2M to the peptide-loading complex.", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" }, { "database": "PubMed", "id": "21263072", "url": "https://glygen.org/publication/PubMed/21263072" } ] }, { "start_pos": 253, "end_pos": 253, "sequence_org": "N", "sequence_mut": "Q", "comment": "Reduces the recruitment of PDIA3 to TAP1-TAP2 transporter.", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" }, { "database": "PubMed", "id": "21263072", "url": "https://glygen.org/publication/PubMed/21263072" } ] }, { "start_pos": 428, "end_pos": 428, "sequence_org": "K", "sequence_mut": "D", "comment": "Restores interaction with TAP1-TAP2; when associated with TAP1 K-92 or TAP2 K-16.", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" }, { "database": "PubMed", "id": "26611325", "url": "https://glygen.org/publication/PubMed/26611325" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231925", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231925" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15533", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15533" } ], "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 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"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", 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"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", 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"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": 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"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": "O15533", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15533" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15533" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15533", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15533" } ], "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", 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"url": "https://www.uniprot.org/uniprot/Q6P1N7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 448, "header": "sp|O15533-1|TPSN_HUMAN Isoform 1 of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=2 CANONICAL=O15533-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSV9-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKVQCSTSLYLSLVTLSPHPISKPMEGGCWCGRQNLGLEFTLIWVKTWHYILTVGLFEHAT", "length": 504, "header": "tr|A0A0A0MSV9-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4749975, "end_pos": 4739714, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383065", "url": "https://www.ensembl.org/id/ENST00000383065" }, { "database": "Ensembl Peptide", "id": "ENSP00000372542", "url": "https://www.ensembl.org/id/ENSP00000372542" } ] } }, { "isoform_ac": "A0A0A0MT98-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 361, "header": "tr|A0A0A0MT98-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33301763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000489157", "url": "https://www.ensembl.org/id/ENST00000489157" }, { "database": "Ensembl Peptide", "id": "ENSP00000419659", "url": "https://www.ensembl.org/id/ENSP00000419659" } ] } }, { "isoform_ac": "A0A0G2JH37-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVEMGFHHVGQAALELLTSVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 466, "header": "tr|A0A0G2JH37-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 4725524, "end_pos": 4713255, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374568.8", "url": "https://www.ensembl.org/id/ENST00000374568.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000363696.4", "url": "https://www.ensembl.org/id/ENSP00000363696.4" } ] } }, { "isoform_ac": "A0A0G2JJI5-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQGQVTLELAVY", "length": 202, "header": "tr|A0A0G2JJI5-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_DBB_CTG1", "start_pos": 4557556, "end_pos": 4548517, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432848.5", "url": "https://www.ensembl.org/id/ENST00000432848.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408033.1", "url": "https://www.ensembl.org/id/ENSP00000408033.1" } ] } }, { "isoform_ac": "A0A0G2JKZ1-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKHAT", "length": 448, "header": "tr|A0A0G2JKZ1-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_DBB_CTG1", "start_pos": 4557556, "end_pos": 4547305, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553235.3", "url": "https://www.ensembl.org/id/ENST00000553235.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000447823.3", "url": "https://www.ensembl.org/id/ENSP00000447823.3" } ] } }, { "isoform_ac": "A0A140T9B2-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVY", "length": 202, "header": "tr|A0A140T9B2-1|A0A140T9B2_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4749975, "end_pos": 4740926, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444432.5", "url": "https://www.ensembl.org/id/ENST00000444432.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398088.1", "url": "https://www.ensembl.org/id/ENSP00000398088.1" } ] } }, { "isoform_ac": "A0A8V8TNS3-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYSLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 334, "header": "tr|A0A8V8TNS3-1|A0A8V8TNS3_HUMAN Computationally mapped isoform of TAP binding protein OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33301763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699652.1", "url": "https://www.ensembl.org/id/ENST00000699652.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514503.1", "url": "https://www.ensembl.org/id/ENSP00000514503.1" } ] } }, { "isoform_ac": "A0A8V8TP19-1", "url": "", "sequence": { "sequence": "MPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 264, "header": "tr|A0A8V8TP19-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33305304, "end_pos": 33301763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699649.1", "url": "https://www.ensembl.org/id/ENST00000699649.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514500.1", "url": "https://www.ensembl.org/id/ENSP00000514500.1" } ] } }, { "isoform_ac": "A0A8V8TP24-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKAGVQWHDLGSRHAPPPGFTPFSCLSFPSSWDYRGPPPRPANFLCF", "length": 490, "header": "tr|A0A8V8TP24-1|A0A8V8TP24_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33300499, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699656.1", "url": "https://www.ensembl.org/id/ENST00000699656.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514505.1", "url": "https://www.ensembl.org/id/ENSP00000514505.1" } ] } }, { "isoform_ac": "A0A8V8TPY1-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYTVYLSTCKDSKKKAE", "length": 304, "header": "tr|A0A8V8TPY1-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33301763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699648.1", "url": "https://www.ensembl.org/id/ENST00000699648.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514499.1", "url": "https://www.ensembl.org/id/ENSP00000514499.1" } ] } }, { "isoform_ac": "A0A8V8TPY6-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYSLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 247, "header": "tr|A0A8V8TPY6-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33301763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699654.1", "url": "https://www.ensembl.org/id/ENST00000699654.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514504.1", "url": "https://www.ensembl.org/id/ENSP00000514504.1" } ] } }, { "isoform_ac": "A0A8V8TQC1-1", "url": "", "sequence": { "sequence": "MSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 356, "header": "tr|A0A8V8TQC1-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33313409, "end_pos": 33301763, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699650.1", "url": "https://www.ensembl.org/id/ENST00000699650.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514501.1", "url": "https://www.ensembl.org/id/ENSP00000514501.1" } ] } }, { "isoform_ac": "A0A8V8TQC5-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAESRVRALTAILWKPPSSLAQASVVAP", "length": 459, "header": "tr|A0A8V8TQC5-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33301695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699657.1", "url": "https://www.ensembl.org/id/ENST00000699657.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514506.1", "url": "https://www.ensembl.org/id/ENSP00000514506.1" } ] } }, { "isoform_ac": "A2AB90-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVEMGFHHVGQAALELLTSVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 466, "header": "tr|A2AB90-1|TPSN_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4749975, "end_pos": 4737699, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383067.8", "url": "https://www.ensembl.org/id/ENST00000383067.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000372544.4", "url": "https://www.ensembl.org/id/ENSP00000372544.4" } ] } }, { "isoform_ac": "C9JA35-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAESRVRALTAILWKPPSSLAQASVVAP", "length": 402, "header": "tr|C9JA35-1|C9JA35_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=2 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33301695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467025.2", "url": "https://www.ensembl.org/id/ENST00000467025.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000417523.2", "url": "https://www.ensembl.org/id/ENSP00000417523.2" } ] } }, { "isoform_ac": "O15533-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 448, "header": "sp|O15533-1|TPSN_HUMAN Isoform 1 of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=2 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4749975, "end_pos": 4737699, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383066.8", "url": "https://www.ensembl.org/id/ENST00000383066.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000372543.4", "url": "https://www.ensembl.org/id/ENSP00000372543.4" } ] } }, { "isoform_ac": "O15533-2", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGKSWELCGI", "length": 412, "header": "sp|O15533-2|TPSN_HUMAN Isoform 2 of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=2 CANONICAL=O15533-1" }, "locus": {} }, { "isoform_ac": "O15533-3", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKVQCSTSLYLSLVTLSPHPISKPMEGGCWCGRQNLGLEFTLIWVKTWHYILTVGLFEHAT", "length": 504, "header": "sp|O15533-3|TPSN_HUMAN Isoform 3 of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=2 CANONICAL=O15533-1" }, "locus": { "chromosome": "6", "start_pos": 33314041, "end_pos": 33303778, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699659.1", "url": "https://www.ensembl.org/id/ENST00000699659.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514507.1", "url": "https://www.ensembl.org/id/ENSP00000514507.1" } ] } }, { "isoform_ac": "O15533-4", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE", "length": 361, "header": "sp|O15533-4|TPSN_HUMAN Isoform 4 of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=2 CANONICAL=O15533-1" }, "locus": {} }, { "isoform_ac": "Q6P1N7-1", "url": "", "sequence": { "sequence": "MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSMGHAMPVEFTIPACLPRGAALRSPWR", "length": 156, "header": "tr|Q6P1N7-1|Q6P1N7_HUMAN Computationally mapped isoform of Tapasin OS=Homo sapiens OX=9606 GN=TAPBP PE=1 SV=1 CANONICAL=O15533-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 4508468, "end_pos": 4498734, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548408.3", "url": "https://www.ensembl.org/id/ENST00000548408.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000447220.1", "url": "https://www.ensembl.org/id/ENSP00000447220.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 253, "start_aa": "Asn", "end_pos": 253, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn253", "evidence": [ { "id": "1784", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1784" }, { "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": 253, "start_aa": "Asn", "end_pos": 253, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn253", "evidence": [ { "id": "O15533", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15533#ptm_processing" }, { "id": "19119025", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19119025" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 372, "start_aa": "Thr", "end_pos": 372, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr372", "evidence": [ { "id": "O15533", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "phosphorylation": [ { "start_pos": 295, "end_pos": 295, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15533" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser295" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O15533", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Cell surface expression of HLA-E: interaction with human beta2-microglobulin and allelic differences.", "journal": "European journal of immunology", "date": "1999", "authors": "Ulbrecht M, Couturier A, Martinozzi S, Pla M, Srivastava R, Peterson PA, Weiss EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "10064069", "url": "https://glygen.org/publication/PubMed/10064069" } ] }, { "title": "Granulocyte-macrophage colony-stimulating factor modulates tapasin expression in human neutrophils.", "journal": "Journal of leukocyte biology", "date": "1999", "authors": "El Ouakfaoui S, Heitz D, Paquin R, Beaulieu AD", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "reference": [ { "type": "PubMed", "id": "10088603", "url": "https://glygen.org/publication/PubMed/10088603" } ] }, { "title": "The N-terminal region of tapasin is required to stabilize the MHC class I loading complex.", "journal": "Eur. J. Immunol.", "date": "1999", "authors": "Bangia N, Lehner P J, Hughes E A, Surman M, Cresswell P", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "reference": [ { "type": "PubMed", "id": "10382748", "url": "https://glygen.org/publication/PubMed/10382748" } ] }, { "title": "Kinetic analysis of peptide binding to the TAP transport complex: evidence for structural rearrangements induced by substrate binding.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Neumann L, Tampe R", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "10600378", "url": "https://glygen.org/publication/PubMed/10600378" } ] }, { "title": "Tapasin is required for efficient peptide binding to transporter associated with antigen processing.", "journal": "The Journal of biological chemistry", "date": "2000-01-21", "authors": "Li S, Paulsson K M, Chen S, Sj\u00f6gren H O, Wang P", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "reference": [ { "type": "PubMed", "id": "10636848", "url": "https://glygen.org/publication/PubMed/10636848" } ] }, { "title": "Functional relationship between calreticulin, calnexin, and the endoplasmic reticulum luminal domain of calnexin.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Danilczyk UG, Cohen-Doyle MF, Williams DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "10777614", "url": "https://glygen.org/publication/PubMed/10777614" } ] }, { "title": "COPI-coated ER-to-Golgi transport complexes segregate from COPII in close proximity to ER exit sites.", "journal": "Journal of cell science", "date": "2000", "authors": "Stephens DJ, Lin-Marq N, Pagano A, Pepperkok R, Paccaud JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "10825291", "url": "https://glygen.org/publication/PubMed/10825291" } ] }, { "title": "Dynamics of transitional endoplasmic reticulum sites in vertebrate cells.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Hammond AT, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "10982397", "url": "https://glygen.org/publication/PubMed/10982397" } ] }, { "title": "A role for calnexin in the assembly of the MHC class I loading complex in the endoplasmic reticulum.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2001", "authors": "Diedrich G, Bangia N, Pan M, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "11160214", "url": "https://glygen.org/publication/PubMed/11160214" } ] }, { "title": "Selective export of MHC class I molecules from the ER after their dissociation from TAP.", "journal": "Immunity", "date": "2000", "authors": "Spiliotis ET, Manley H, Osorio M, Zuniga MC, Edidin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "11163199", "url": "https://glygen.org/publication/PubMed/11163199" } ] }, { "title": "Relationship between calnexin and BiP in suppressing aggregation and promoting refolding of protein and glycoprotein substrates.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Stronge VS, Saito Y, Ihara Y, Williams DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "11514579", "url": "https://glygen.org/publication/PubMed/11514579" } ] }, { "title": "A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.", "journal": "Blood", "date": "2002", "authors": "Yabe Toshio, Kawamura Sumiyo, Sato Masako, Kashiwase Koichi, Tanaka Hidenori, Ishikawa Yoshihide, Asao Yoji, Oyama Junko, Tsuruta Kazuma, Tokunaga Katsushi, Tadokoro Kenji, Juji Takeo", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "reference": [ { "type": "PubMed", "id": "12149238", "url": "https://glygen.org/publication/PubMed/12149238" } ] }, { "title": "An IFN-gamma-induced aminopeptidase in the ER, ERAP1, trims precursors to MHC class I-presented peptides.", "journal": "Nature immunology", "date": "2002", "authors": "Saric T, Chang SC, Hattori A, York IA, Markant S, Rock KL, Tsujimoto M, Goldberg AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "12436109", "url": "https://glygen.org/publication/PubMed/12436109" } ] }, { "title": "The ER aminopeptidase ERAP1 enhances or limits antigen presentation by trimming epitopes to 8-9 residues.", "journal": "Nature immunology", "date": "2002", "authors": "York IA, Chang SC, Saric T, Keys JA, Favreau JM, Goldberg AL, Rock KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "12436110", "url": "https://glygen.org/publication/PubMed/12436110" } ] }, { "title": "An essential function of tapasin in quality control of HLA-G molecules.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Park B, Ahn K", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "reference": [ { "type": "PubMed", "id": "12582157", "url": "https://glygen.org/publication/PubMed/12582157" } ] }, { "title": "The ABC-transporter signature motif is required for peptide translocation but not peptide binding by TAP.", "journal": "European journal of immunology", "date": "2003", "authors": "Hewitt EW, Lehner PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "12645939", "url": "https://glygen.org/publication/PubMed/12645939" } ] }, { "title": "Generation of a functional, soluble tapasin protein from an alternatively spliced mRNA.", "journal": "Genes and immunity", "date": "2004", "authors": "Gao B, Williams A, Sewell A, Elliott T", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "reference": [ { "type": "PubMed", "id": "14668790", "url": "https://glygen.org/publication/PubMed/14668790" } ] }, { "title": "Beta-2 microglobulin in ESRD: an in-depth review.", "journal": "Advances in renal replacement therapy", "date": "2003", "authors": "Winchester JF, Salsberg JA, Levin NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "14681859", "url": "https://glygen.org/publication/PubMed/14681859" } ] }, { "title": "Quality control of MHC class I maturation.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2004", "authors": "Paulsson KM, Wang P", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "14718384", "url": "https://glygen.org/publication/PubMed/14718384" } ] }, { "title": "Tapasin enhances MHC class I peptide presentation according to peptide half-life.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Howarth M, Williams A, Tolstrup AB, Elliott T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "15286279", "url": "https://glygen.org/publication/PubMed/15286279" } ] }, { "title": "Protein sorting in the Golgi complex: shifting paradigms.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Rodriguez-Boulan E, Musch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "15927284", "url": "https://glygen.org/publication/PubMed/15927284" } ] }, { "title": "The macromolecular peptide-loading complex in MHC class I-dependent antigen presentation.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2006", "authors": "Koch J, Tampe R", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "16465444", "url": "https://glygen.org/publication/PubMed/16465444" } ] }, { "title": "Structural definition of the H-2Kd peptide-binding motif.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Mitaksov V, Fremont DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "16473882", "url": "https://glygen.org/publication/PubMed/16473882" } ] }, { "title": "Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "Ladasky JJ, Boyle S, Seth M, Li H, Pentcheva T, Abe F, Steinberg SJ, Edidin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "17056546", "url": "https://glygen.org/publication/PubMed/17056546" } ] }, { "title": "ERAAP synergizes with MHC class I molecules to make the final cut in the antigenic peptide precursors in the endoplasmic reticulum.", "journal": "Immunity", "date": "2006", "authors": "Kanaseki T, Blanchard N, Hammer GE, Gonzalez F, Shastri N", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "17088086", "url": "https://glygen.org/publication/PubMed/17088086" } ] }, { "title": "Mechanisms of COPII vesicle formation and protein sorting.", "journal": "FEBS letters", "date": "2007", "authors": "Sato K, Nakano A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "17316621", "url": "https://glygen.org/publication/PubMed/17316621" } ] }, { "title": "Peptide-receptive major histocompatibility complex class I molecules cycle between endoplasmic reticulum and cis-Golgi in wild-type lymphocytes.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Garstka M, Borchert B, Al-Balushi M, Praveen PV, Kuhl N, Majoul I, Duden R, Springer S", "evidence": [ { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "17656363", "url": "https://glygen.org/publication/PubMed/17656363" } ] }, { "title": "Phosphorylation of SNAP-23 by IkappaB kinase 2 regulates mast cell degranulation.", "journal": "Cell", "date": "2008", "authors": "Suzuki K, Verma IM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1236974", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1236974" } ], "reference": [ { "type": "PubMed", "id": "18692471", "url": "https://glygen.org/publication/PubMed/18692471" } ] }, { "title": "Insights into MHC class I peptide loading from the structure of the tapasin-ERp57 thiol oxidoreductase heterodimer.", "journal": "Immunity", "date": "2009", "authors": "Dong G, Wearsch PA, Peaper DR, Cresswell P, Reinisch KM", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533#ptm_processing" }, { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" }, { "database": "Reactome", "id": "R-HSA-983170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983170" } ], "reference": [ { "type": "PubMed", "id": "19119025", "url": "https://glygen.org/publication/PubMed/19119025" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme 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"UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "MHC class I peptide loading complex", "id": "GO:0042824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042824", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "lumenal side of endoplasmic reticulum membrane", "id": "GO:0098553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098553", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "Tapasin-ERp57 complex", "id": "GO:0061779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061779", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I", "id": "GO:0019885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019885", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "peptide antigen stabilization", "id": "GO:0050823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050823", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "regulation of protein complex stability", "id": "GO:0061635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061635", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class I protein complex", "id": "GO:0002502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002502", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "MHC class Ib protein complex assembly", "id": "GO:0002398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002398", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "MHC class I protein complex binding", "id": "GO:0023024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023024", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "MHC class I protein binding", "id": "GO:0042288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" }, { "name": "TAP complex binding", "id": "GO:0062061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062061", "evidence": [ { "database": "UniProtKB", "id": "O15533", "url": "https://www.uniprot.org/uniprot/O15533" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": 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