{ "uniprot_canonical_ac": "P04233-1", "uniprot_ac": "P04233", "uniprot_id": "HG2A_HUMAN", "mass": { "chemical_mass": 33516.0, "monoisotopic_mass": 33516.0 }, "refseq": { "ac": "NP_001020329", "name": "HLA class II histocompatibility antigen gamma chain isoform c", "summary": "The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" }, "gene_names": [ { "name": "CD74", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04233", "id": "P04233" }, { "name": "CD74", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329", "id": "NP_001020329" }, { "name": "CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329", "id": "NP_001020329" }, { "name": "DHLAG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04233", "id": "P04233" } ], "protein_names": [ { "name": "HLA class II histocompatibility antigen gamma chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04233" }, { "name": "HLA class II histocompatibility antigen gamma chain isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329", "id": "NP_001020329" }, { "name": "HLA-DR antigens-associated invariant chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04233" }, { "name": "Ia antigen-associated invariant chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04233" }, { "name": "Ia-associated invariant chain; CD74 molecule, major histocompatibility complex, class II invariant chain; CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated); gamma chain of class II antigens; HLA-DR-gamma; HLA class II histocompatibility antigen gamma chain; MHC HLA-DR gamma chain; HLA-DR antigens-associated invariant chain; class II MHC-associated invariant chain peptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329", "id": "NP_001020329" }, { "name": "Ii", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04233" } ], "function": [ { "annotation": "Binds to the peptide-binding site of MHC class II alpha/beta heterodimers forming an alpha-beta-CLIP complex, thereby preventing the loading of antigenic peptides to the MHC class II complex until its release by HLA-DM in the endosome.", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233#function" }, { "database": "PubMed", "id": "1448172", "url": "https://glygen.org/publication/PubMed/1448172" } ] }, { "annotation": "CD74 Promotes a Pro-Inflammatory Tumor Microenvironment by Inducing S100A8 and S100A9 Secretion in Pancreatic Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" }, { "database": "PubMed", "id": "37629174", "url": "https://glygen.org/publication/PubMed/37629174" } ] }, { "annotation": "CD74 deficiency reduces trophoblast invasion and proliferation mediated by SIRT1 in preeclampsia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" }, { "database": "PubMed", "id": "37796743", "url": "https://glygen.org/publication/PubMed/37796743" } ] }, { "annotation": "Macrophage migration inhibitory factor receptor CD74 expression is associated with expansion and differentiation of effector T cells in COVID-19 patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" }, { "database": "PubMed", "id": "37946732", "url": "https://glygen.org/publication/PubMed/37946732" } ] }, { "annotation": "Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF.", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233#function" } ] }, { "annotation": "Stabilizes the conformation of mature CTSL by binding to its active site and serving as a chaperone to help maintain a pool of mature enzyme in endocytic compartments and extracellular space of antigen-presenting cells (APCs). Has antiviral activity by stymieing the endosomal entry of Ebola virus and coronaviruses, including SARS-CoV-2 (PubMed:32855215). Disrupts cathepsin-mediated Ebola virus glycoprotein processing, which prevents viral fusion and entry. This antiviral activity is specific to p41 isoform (PubMed:32855215).", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233#function" }, { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprot/P04441#function" }, { "database": "PubMed", "id": "32855215", "url": "https://glygen.org/publication/PubMed/32855215" } ] }, { "annotation": "The invariant chain CD74 protein is a cell surface binding partner of TIMP-1 in breast cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001020329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" }, { "database": "PubMed", "id": "37081824", "url": "https://glygen.org/publication/PubMed/37081824" } ] }, { "annotation": "The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001020329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" } ] }, { "annotation": "Tumor Necrosis Factor alpha-Dependent Lung Inflammation Promotes the Progression of Lung Adenocarcinoma Originating From Alveolar Type II Cells by Upregulating MIF-CD74.", "evidence": [ { "database": "RefSeq", "id": "NP_001020329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020329" }, { "database": "PubMed", "id": "36925198", "url": "https://glygen.org/publication/PubMed/36925198" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1234104385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234104385" }, { "id": "rs1234104385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234104385" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 130, "end_pos": 130, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->YAT).", "chr_id": "5", "chr_pos": "150406312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs11548080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11548080" }, { "id": "rs11548080", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs11548080" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 132, "end_pos": 132, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAA).", "chr_id": "5", "chr_pos": "150406306", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1419949361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419949361" }, { "id": "rs1419949361", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419949361" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 173, "end_pos": 173, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTM->NTT).", "chr_id": "5", "chr_pos": "150405104", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1453030647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453030647" }, { "id": "rs1453030647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453030647" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 203, "end_pos": 203, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "150404697", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1581249018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581249018" }, { "id": "rs1581249018", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1581249018" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 237, "end_pos": 237, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGT).", "chr_id": "5", "chr_pos": "150403228", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377610250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377610250" }, { "id": "rs377610250", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377610250" }, { "id": "rs377610250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377610250" }, { "id": "rs377610250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377610250#frequency_tab" }, { "id": "rs377610250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377610250" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 256, "end_pos": 256, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "5", "chr_pos": "150403170", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756115927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756115927" }, { "id": "rs756115927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756115927" }, { "id": "rs756115927", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756115927#frequency_tab" }, { "id": "rs756115927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756115927" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 258, "end_pos": 258, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "5", "chr_pos": "150403165", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04233", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04233" }, { "id": "rs142995261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142995261" }, { "id": "rs142995261", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142995261" }, { "id": "rs142995261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142995261#frequency_tab" }, { "id": "rs142995261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142995261" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 281, "end_pos": 281, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->P).", "chr_id": "5", "chr_pos": "150402602", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S281", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479131130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479131130" }, { "id": "rs1479131130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479131130" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 281, "end_pos": 281, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "5", "chr_pos": "150402601", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286393731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286393731" }, { "id": "rs1286393731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286393731" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 287, "end_pos": 287, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "150402584", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746367511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746367511" }, { "id": "rs746367511", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746367511" }, { "id": "rs746367511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746367511" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 66, "end_pos": 66, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "150407254", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T66", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746367511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746367511" }, { "id": "rs746367511", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746367511" }, { "id": "rs746367511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746367511" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 66, "end_pos": 66, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "5", "chr_pos": "150407254", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T66", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339572080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339572080" }, { "id": "rs1339572080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1339572080#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 6, "end_pos": 6, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "5", "chr_pos": "150412733", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S6", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 225, "end_pos": 226, "sequence_org": "PG", "sequence_mut": "DD", "comment": "Decreases inhibition of Ebola virus infection.", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" }, { "database": "PubMed", "id": "32855215", "url": "https://glygen.org/publication/PubMed/32855215" } ] }, { "start_pos": 225, "end_pos": 226, "sequence_org": "PG", "sequence_mut": "RR", "comment": "Decreases inhibition of Ebola virus infection.", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" }, { "database": "PubMed", "id": "32855215", "url": "https://glygen.org/publication/PubMed/32855215" } ] }, { "start_pos": 225, "end_pos": 226, "sequence_org": "PG", "sequence_mut": "TT", "comment": "No effect on inhibition of Ebola virus infection.", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" }, { "database": "PubMed", "id": "32855215", "url": "https://glygen.org/publication/PubMed/32855215" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019582", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019582" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019582", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019582" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019582", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019582" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019582", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019582" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019582", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019582" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019582", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019582" } ] 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"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", 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"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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"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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"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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"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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04233", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04233" } ], "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/P04233" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MHRRRSRSCREDQKPVMDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQY", "length": 148, "header": "tr|H0YBZ8-1|HG2A_HUMAN Computationally mapped isoform of HLA class II histocompatibility antigen gamma chain OS=Homo sapiens OX=9606 GN=CD74 PE=1 SV=2 CANONICAL=P04233-1" }, "locus": { "chromosome": "5", "start_pos": 150412749, "end_pos": 150403310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523208.6", "url": "https://www.ensembl.org/id/ENST00000523208.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000430654.2", "url": "https://www.ensembl.org/id/ENSP00000430654.2" } ] } }, { "isoform_ac": "P04233-1", "url": "", "sequence": { "sequence": "MHRRRSRSCREDQKPVMDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKVLTKCQEEVSHIPAVHPGSFRPKCDENGNYLPLQCYGSIGYCWCVFPNGTEVPNTRSRGHHNCSESLELEDPSSGLGVTKQDLGPVPM", "length": 296, "header": "sp|P04233-1|HG2A_HUMAN Isoform 1 of HLA class II histocompatibility antigen gamma chain OS=Homo sapiens OX=9606 GN=CD74 PE=1 SV=3 CANONICAL=P04233-1" }, "locus": { "chromosome": "5", "start_pos": 150412749, "end_pos": 150402243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000009530.13", "url": "https://www.ensembl.org/id/ENST00000009530.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000009530.7", "url": "https://www.ensembl.org/id/ENSP00000009530.7" } ] } }, { "isoform_ac": "P04233-2", "url": "", "sequence": { "sequence": "MHRRRSRSCREDQKPVMDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKESLELEDPSSGLGVTKQDLGPVPM", "length": 232, "header": "sp|P04233-2|HG2A_HUMAN Isoform 2 of HLA class II histocompatibility antigen gamma chain OS=Homo sapiens OX=9606 GN=CD74 PE=1 SV=3 CANONICAL=P04233-1" }, "locus": { "chromosome": "5", "start_pos": 150412749, "end_pos": 150402243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000353334.11", "url": "https://www.ensembl.org/id/ENST00000353334.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000230685.6", "url": "https://www.ensembl.org/id/ENSP00000230685.6" } ] } }, { "isoform_ac": "P04233-3", "url": "", "sequence": { "sequence": "MHRRRSRSCREDQKPVMDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQSHWNWRTRLLGWV", "length": 160, "header": "sp|P04233-3|HG2A_HUMAN Isoform 3 of HLA class II histocompatibility antigen gamma chain OS=Homo sapiens OX=9606 GN=CD74 PE=1 SV=3 CANONICAL=P04233-1" }, "locus": { "chromosome": "5", "start_pos": 150412749, "end_pos": 150402587, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377795.7", "url": "https://www.ensembl.org/id/ENST00000377795.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000367026.3", "url": "https://www.ensembl.org/id/ENSP00000367026.3" } ] } }, { "isoform_ac": "P04233-4", "url": "", "sequence": { "sequence": "MDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKVLTKCQEEVSHIPAVHPGSFRPKCDENGNYLPLQCYGSIGYCWCVFPNGTEVPNTRSRGHHNCSESLELEDPSSGLGVTKQDLGPVPM", "length": 280, "header": "sp|P04233-4|HG2A_HUMAN Isoform 4 of HLA class II histocompatibility antigen gamma chain OS=Homo sapiens OX=9606 GN=CD74 PE=1 SV=3 CANONICAL=P04233-1" }, "locus": {} }, { "isoform_ac": "P04233-5", "url": "", "sequence": { "sequence": "MDDQRDLISNNEQLPMLGRRPGAPESKCSRGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPVSKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKESLELEDPSSGLGVTKQDLGPVPM", "length": 216, "header": "sp|P04233-5|HG2A_HUMAN Isoform 5 of HLA class II histocompatibility antigen gamma chain OS=Homo sapiens OX=9606 GN=CD74 PE=1 SV=3 CANONICAL=P04233-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "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": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "P04233", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P04233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04233#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G45495MK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G71146HJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "P04233", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P04233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04233#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HSLEQKPTDAPPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 196, "start_aa": "His", "end_pos": 208, "end_aa": "Lys", "evidence": [ { "id": "P04233", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 197, "start_aa": "Ser", "end_pos": 197, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser197", "evidence": [ { "id": "P04233", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 203, "start_aa": "Thr", "end_pos": 203, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr203", "evidence": [ { "id": "659", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/659" }, { "id": "23234360", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23234360" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 203, 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presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative regulation of mature B cell apoptotic process", "id": "GO:0002906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002906", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of kinase activity", "id": "GO:0033674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033674", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin biosynthetic process", "id": "GO:0031394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031394", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous antigen", "id": "GO:0019883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019883", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of macrophage cytokine production", "id": "GO:0060907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060907", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "chaperone cofactor-dependent protein refolding", "id": "GO:0051085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051085", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "regulation of macrophage activation", "id": "GO:0043030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043030", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "prostaglandin biosynthetic process", "id": "GO:0001516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001516", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell antigen processing and presentation", "id": "GO:0002606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002606", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative regulation of T cell differentiation", "id": "GO:0045581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045581", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "T cell selection", "id": "GO:0045058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045058", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative regulation of viral entry into host cell", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "negative regulation of peptide secretion", "id": "GO:0002792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002792", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of type 2 immune response", "id": "GO:0002830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002830", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "macrophage migration inhibitory factor signaling pathway", "id": "GO:0035691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035691", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "positive regulation of macrophage migration inhibitory factor signaling pathway", "id": "GO:2000448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000448", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 24, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "transport vesicle membrane", "id": "GO:0030658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030658", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "endocytic vesicle membrane", "id": "GO:0030666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle membrane", "id": "GO:0030669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "ER to Golgi transport vesicle membrane", "id": "GO:0012507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012507", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "vacuole", "id": "GO:0005773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005773", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "macrophage migration inhibitory factor receptor complex", "id": "GO:0035692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035692", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" }, { "name": "NOS2-CD74 complex", "id": "GO:0035693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035693", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "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": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "HLA class II histocompatibility antigen gamma chain O-glycosylated 1 (human)", "definition": "An HLA class II histocompatibility antigen gamma chain (human) that has been O-glycosylated at the residue equivalent to Ser-281 of the amino acid sequence represented by UniProtKB:P04233-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04233-1, Ser-281, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053337", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053337" } ] }, { "name": "HLA class II histocompatibility antigen gamma chain O-glycosylated 2 (human)", "definition": "An HLA class II histocompatibility antigen gamma chain (human) that has been O-glycosylated at the residue equivalent to Ser-282 of the amino acid sequence represented by UniProtKB:P04233-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04233-1, Ser-282, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053338", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053338" } ] }, { "name": "HLA class II histocompatibility antigen gamma chain O-glycosylated 3 (human)", "definition": "An HLA class II histocompatibility antigen gamma chain (human) that has been O-glycosylated at the residue equivalent to Thr-203 of the amino acid sequence represented by UniProtKB:P04233-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04233-1, Thr-203, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:22171320, PMID:23234360]", "evidence": [ { "id": "PR:000053339", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053339" } ] }, { "name": "HLA class II histocompatibility antigen gamma chain O-glycosylated 4 (human)", "definition": "An HLA class II histocompatibility antigen gamma chain (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P04233-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04233-1, Thr-287, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053340", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053340" } ] } ], "site_annotation": [ { "start_pos": 130, "end_pos": 132, "annotation": "n_glycosylation_sequon" }, { "start_pos": 136, "end_pos": 138, "annotation": "n_glycosylation_sequon" }, { "start_pos": 256, "end_pos": 258, "annotation": "n_glycosylation_sequon" }, { "start_pos": 270, "end_pos": 272, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-glycosylated with core 1 or possibly core 8 glycans (PubMed:22171320, PubMed:23234360). Contains chondroitin sulfate (PubMed:25326458).", "evidence": [ { "database": "UniProtKB", "id": "P04233", "url": "https://www.uniprot.org/uniprot/P04233" }, { "database": "PubMed", "id": "23234360", "url": "https://glygen.org/publication/PubMed/23234360" }, { "database": "PubMed", "id": "25326458", "url": "https://glygen.org/publication/PubMed/25326458" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 130, 136, 148, 256, 270 ], "o_linked_sites": [ 66, 81, 196, 197, 203, 281, 282, 287 ], "snv_sites": [ 6, 66, 130, 132, 173, 203, 237, 256, 258, 281, 287 ], "glycation_sites": [], "phosphorylation_sites": [ 25, 42, 45 ], "sequon_annotation_sites": [ { "start_pos": 130, "end_pos": 132 }, { "start_pos": 136, "end_pos": 138 }, { "start_pos": 256, "end_pos": 258 }, { "start_pos": 270, "end_pos": 272 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 33 }, { "field": "total_sites", "count": 12 }, { "field": "n_linked_glycans", "count": 11 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 10 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 25 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 11 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 154 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }