{ "uniprot_canonical_ac": "P61966-1", "uniprot_ac": "P61966", "uniprot_id": "AP1S1_HUMAN", "mass": { "chemical_mass": 18733.0, "monoisotopic_mass": 18733.0 }, "refseq": { "ac": "NP_001274", "name": "AP-1 complex subunit sigma-1A", "summary": "The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274" }, "gene_names": [ { "name": "AP1S1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P61966", "id": "P61966" }, { "name": "AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274", "id": "NP_001274" }, { "name": "AP19", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P61966", "id": "P61966" }, { "name": "AP1S1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274", "id": "NP_001274" }, { "name": "CLAPS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P61966", "id": "P61966" } ], "protein_names": [ { "name": "AP-1 complex subunit sigma-1A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P61966" }, { "name": "AP-1 complex subunit sigma-1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274", "id": "NP_001274" }, { "name": "Adaptor protein complex AP-1 subunit sigma-1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Adaptor-related protein complex 1 subunit sigma-1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Clathrin assembly protein complex 1 sigma-1A small chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Clathrin coat assembly protein AP19", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "HA1 19 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Sigma 1a subunit of AP-1 clathrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Sigma-adaptin 1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "Sigma1A-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P61966" }, { "name": "clathrin-associated/assembly/adaptor protein, small 1 (19kD); golgi adaptor HA1/AP1 adaptin sigma-1A subunit; clathrin assembly protein complex 1 sigma-1A small chain; HA1 19 kDa subunit; adaptor related protein complex 1 sigma 1 subunit; sigma1A subunit of AP-1 clathrin adaptor complex; sigma1A-adaptin; clathrin coat assembly protein AP19; adaptor protein complex AP-1 subunit sigma-1A; adaptor-related protein complex 1 subunit sigma-1A; adapter-related protein complex 1 sigma-1A subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274", "id": "NP_001274" } ], "function": [ { "annotation": "AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.", "evidence": [ { "database": "RefSeq", "id": "NP_001274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274" }, { "database": "PubMed", "id": "32306098", "url": "https://glygen.org/publication/PubMed/32306098" } ] }, { "annotation": "Isolation and description of the rat and mouse genes.", "evidence": [ { "database": "RefSeq", "id": "NP_001274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274" }, { "database": "PubMed", "id": "2040623", "url": "https://glygen.org/publication/PubMed/2040623" } ] }, { "annotation": "Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.", "evidence": [ { "database": "UniProtKB", "id": "P61966", "url": "https://www.uniprot.org/uniprot/P61966#function" }, { "database": "PubMed", "id": "9733768", "url": "https://glygen.org/publication/PubMed/9733768" } ] }, { "annotation": "The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274" } ] }, { "annotation": "We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins Erratum:[Brain. 2013 Oct;136(Pt 10):e256]", "evidence": [ { "database": "RefSeq", "id": "NP_001274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274" }, { "database": "PubMed", "id": "23423674", "url": "https://glygen.org/publication/PubMed/23423674" } ] } ], "disease": [ { "disease_id": "DOID:0060483", "recommended_name": { "id": "DOID:0060483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060483", "name": "MEDNIK syndrome", "description": "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22." }, "synonyms": [ { "id": "DOID:0060483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060483", "name": "erythrokeratodermia variabilis 3", "description": "" }, { "id": "DOID:0060483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060483", "name": "erythrokeratodermia variabilis, Kamouraska type", "description": "" }, { "id": "DOID:0060483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060483", "name": "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "MEDNIK syndrome", "description": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "erythrokeratodermia variabilis 3", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "erythrokeratodermia variabilis, Kamouraska type", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "MEDNIK", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma", "description": "" }, { "id": "MONDO:0012251", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012251", "name": "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma", "description": "" }, { "id": "MIM:609313", "resource": "MIM", "url": "https://www.omim.org/entry/609313", "name": "MEDNIK syndrome", "description": "MEDNIK syndrome" } ], "evidence": [ { "id": "609313", "database": "MIM", "url": "https://www.omim.org/entry/609313" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "71.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "91.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "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": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106367", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106367" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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 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"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, 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"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 - 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"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", 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"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 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"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": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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": "P61966", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P61966" } ], "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 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"PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-164940", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164940", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7S3", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7S3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y7S3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7S3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YGH5", "url": "https://www.uniprot.org/uniprot/A0A2R8YGH5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YGH5-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YGH5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1E4", "url": "https://www.uniprot.org/uniprot/H7C1E4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1E4-1", "url": "https://www.uniprot.org/uniprot/H7C1E4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P61966", "url": "https://www.uniprot.org/uniprot/P61966", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P61966-1", "url": "https://www.uniprot.org/uniprot/P61966-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P61966-2", "url": "https://www.uniprot.org/uniprot/P61966-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA", "length": 158, "header": "sp|P61966-1|AP1S1_HUMAN Isoform 1 of AP-1 complex subunit sigma-1A OS=Homo sapiens OX=9606 GN=AP1S1 PE=1 SV=1 CANONICAL=P61966-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y7S3-1", "url": "", "sequence": { "sequence": "MSQDLNPADRLRSSDFPLLVETPSLESKGLDVGRK", "length": 35, "header": "tr|A0A2R8Y7S3-1|A0A2R8Y7S3_HUMAN Computationally mapped isoform of Adaptor related protein complex 1 subunit sigma 1 OS=Homo sapiens OX=9606 GN=AP1S1 PE=4 SV=1 CANONICAL=P61966-1" }, "locus": { "chromosome": "7", "start_pos": 101156519, "end_pos": 101154515, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646950.1", "url": "https://www.ensembl.org/id/ENST00000646950.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496332.1", "url": "https://www.ensembl.org/id/ENSP00000496332.1" } ] } }, { "isoform_ac": "A0A2R8YGH5-1", "url": "", "sequence": { "sequence": "MRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA", "length": 157, "header": "tr|A0A2R8YGH5-1|AP1S1_HUMAN Computationally mapped isoform of AP-1 complex subunit sigma-1A OS=Homo sapiens OX=9606 GN=AP1S1 PE=1 SV=1 CANONICAL=P61966-1" }, "locus": { "chromosome": "7", "start_pos": 101160563, "end_pos": 101156594, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646560.1", "url": "https://www.ensembl.org/id/ENST00000646560.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496031.1", "url": "https://www.ensembl.org/id/ENSP00000496031.1" } ] } }, { "isoform_ac": "H7C1E4-1", "url": "", "sequence": { "sequence": "XAKREGRGKRGAWAAPAGVLGGRPRGEPPCLPSGPQRPPLPRRMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPR", "length": 191, "header": "tr|H7C1E4-1|AP1S1_HUMAN Computationally mapped isoform of AP-1 complex subunit sigma-1A OS=Homo sapiens OX=9606 GN=AP1S1 PE=1 SV=1 CANONICAL=P61966-1" }, "locus": { "chromosome": "7", "start_pos": 101160537, "end_pos": 101154525, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429457.1", "url": "https://www.ensembl.org/id/ENST00000429457.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399902.1", "url": "https://www.ensembl.org/id/ENSP00000399902.1" } ] } }, { "isoform_ac": "P61966-1", "url": "", "sequence": { "sequence": "MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA", "length": 158, "header": "sp|P61966-1|AP1S1_HUMAN Isoform 1 of AP-1 complex subunit sigma-1A OS=Homo sapiens OX=9606 GN=AP1S1 PE=1 SV=1 CANONICAL=P61966-1" }, "locus": { "chromosome": "7", "start_pos": 101160563, "end_pos": 101154515, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443943.5", "url": "https://www.ensembl.org/id/ENST00000443943.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410780.1", "url": "https://www.ensembl.org/id/ENSP00000410780.1" } ] } }, { "isoform_ac": "P61966-2", "url": "", "sequence": { "sequence": "MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSTFPFSH", "length": 133, "header": "sp|P61966-2|AP1S1_HUMAN Isoform 2 of AP-1 complex subunit sigma-1A OS=Homo sapiens OX=9606 GN=AP1S1 PE=1 SV=1 CANONICAL=P61966-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P61966", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61966" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 147, "end_pos": 147, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P61966", "url": "https://www.uniprot.org/uniprot/P61966" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P61966", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61966" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser147" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Characterization of a fourth adaptor-related protein complex.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Hirst J, Bright NA, Rous B, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10436028", "url": "https://glygen.org/publication/PubMed/10436028" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Cell surface expression and metabolism of major histocompatibility complex class II invariant chain (CD74) by diverse cell lines.", "journal": "Immunology", "date": "1999", "authors": "Ong GL, Goldenberg DM, Hansen HJ, Mattes MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10593899", "url": "https://glygen.org/publication/PubMed/10593899" } ] }, { "title": "Proteases involved in MHC class II antigen presentation.", "journal": "Immunological reviews", "date": "1999", "authors": "Villadangos JA, Bryant RA, Deussing J, Driessen C, Lennon-Dumenil AM, Riese RJ, Roth W, Saftig P, Shi GP, Chapman HA, Peters C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631941", "url": "https://glygen.org/publication/PubMed/10631941" } ] }, { "title": "The impact of the non-classical MHC proteins HLA-DM and HLA-DO on loading of MHC class II molecules.", "journal": "Immunological reviews", "date": "1999", "authors": "Kropshofer H, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631952", "url": "https://glygen.org/publication/PubMed/10631952" } ] }, { "title": "Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Arunachalam B, Phan UT, Geuze HJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10639150", "url": "https://glygen.org/publication/PubMed/10639150" } ] }, { "title": "Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Shi GP, Bryant RA, Riese R, Verhelst S, Driessen C, Li Z, Bromme D, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10748235", "url": "https://glygen.org/publication/PubMed/10748235" } ] }, { "title": "Lysosomal cathepsin B plays an important role in antigen processing, while cathepsin D is involved in degradation of the invariant chain inovalbumin-immunized mice.", "journal": "Immunology", "date": "2000", "authors": "Zhang T, Maekawa Y, Hanba J, Dainichi T, Nashed BF, Hisaeda H, Sakai T, Asao T, Himeno K, Good RA, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10809954", "url": "https://glygen.org/publication/PubMed/10809954" } ] }, { "title": "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aguilar RC, Boehm M, Gorshkova I, Crouch RJ, Tomita K, Saito T, Ohno H, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11139587", "url": "https://glygen.org/publication/PubMed/11139587" } ] }, { "title": "Hepatitis B virus large envelope protein interacts with gamma2-adaptin, a clathrin adaptor-related protein.", "journal": "Journal of virology", "date": "2001", "authors": "Hartmann-Stuhler C, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11333915", "url": "https://glygen.org/publication/PubMed/11333915" } ] }, { "title": "Trans-Golgi network sorting.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2001", "authors": "Gu F, Crump CM, Thomas G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11529500", "url": "https://glygen.org/publication/PubMed/11529500" } ] }, { "title": "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Sohda M, Misumi Y, Yamamoto A, Yano A, Nakamura N, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11590181", "url": "https://glygen.org/publication/PubMed/11590181" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "Presentation of antigens by MHC class II molecules: getting the most out of them.", "journal": "Molecular immunology", "date": "2001", "authors": "Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11684289", "url": "https://glygen.org/publication/PubMed/11684289" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Trafficking of MHC class II molecules in the late secretory pathway.", "journal": "Current opinion in immunology", "date": "2002", "authors": "Hiltbold EM, Roche PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11790530", "url": "https://glygen.org/publication/PubMed/11790530" } ] }, { "title": "Specific role for cathepsin S in the generation of antigenic peptides in vivo.", "journal": "European journal of immunology", "date": "2002", 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