{ "uniprot_canonical_ac": "O94817-1", "uniprot_ac": "O94817", "uniprot_id": "ATG12_HUMAN", "mass": { "chemical_mass": 15113.0, "monoisotopic_mass": 15113.0 }, "refseq": { "ac": "NP_001264712", "name": "ubiquitin-like protein ATG12 isoform 2", "summary": "Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, "gene_names": [ { "name": "ATG12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94817", "id": "O94817" }, { "name": "APG12; APG12L; FBR93; HAPG12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712", "id": "NP_001264712" }, { "name": "APG12L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94817", "id": "O94817" }, { "name": "APG12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94817", "id": "O94817" }, { "name": "ATG12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712", "id": "NP_001264712" } ], "protein_names": [ { "name": "Ubiquitin-like protein ATG12", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94817" }, { "name": "APG12-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94817" }, { "name": "Apg12 (autophagy, yeast) homolog; ubiquitin-like protein ATG12; ATG12 autophagy related 12 homolog; APG12 autophagy 12-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712", "id": "NP_001264712" }, { "name": "Autophagy-related protein 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94817" }, { "name": "ubiquitin-like protein ATG12 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712", "id": "NP_001264712" } ], "function": [ { "annotation": "(Microbial infection) May act as a proviral factor. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established (PubMed:19666601).", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817#function" }, { "database": "PubMed", "id": "19666601", "url": "https://glygen.org/publication/PubMed/19666601" }, { "database": "PubMed", "id": "17709747", "url": "https://glygen.org/publication/PubMed/17709747" } ] }, { "annotation": "ATG12 deficiency results in intracellular glutamine depletion, abrogation of tumor hypoxia and a favorable prognosis in cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, { "database": "PubMed", "id": "34904929", "url": "https://glygen.org/publication/PubMed/34904929" } ] }, { "annotation": "Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers.", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, { "database": "PubMed", "id": "34870550", "url": "https://glygen.org/publication/PubMed/34870550" } ] }, { "annotation": "Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" } ] }, { "annotation": "Circ_SIRT1 upregulates ATG12 to facilitate Imatinib resistance in CML through interacting with EIF4A3.", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, { "database": "PubMed", "id": "37866664", "url": "https://glygen.org/publication/PubMed/37866664" } ] }, { "annotation": "Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, { "database": "PubMed", "id": "11825910", "url": "https://glygen.org/publication/PubMed/11825910" } ] }, { "annotation": "LncRNA OIP5-AS1 Promotes the Autophagy-Related Imatinib Resistance in Chronic Myeloid Leukemia Cells by Regulating miR-30e-5p/ATG12 Axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, { "database": "PubMed", "id": "34723728", "url": "https://glygen.org/publication/PubMed/34723728" } ] }, { "annotation": "Toxoplasma gondii profilin and tachyzoites RH strain may manipulate autophagy via downregulating Atg5 and Atg12 and upregulating Atg7.", "evidence": [ { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" }, { "database": "PubMed", "id": "34453672", "url": "https://glygen.org/publication/PubMed/34453672" } ] }, { "annotation": "Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817#function" }, { "database": "PubMed", "id": "19074260", "url": "https://glygen.org/publication/PubMed/19074260" }, { "database": "PubMed", "id": "17999726", "url": "https://glygen.org/publication/PubMed/17999726" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" }, { "database": "PubMed", "id": "19164948", "url": "https://glygen.org/publication/PubMed/19164948" }, { "database": "PubMed", "id": "12207896", "url": "https://glygen.org/publication/PubMed/12207896" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs767663040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767663040" }, { "id": "rs767663040", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767663040" }, { "id": "rs767663040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767663040" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 41, "end_pos": 41, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "5", "chr_pos": "115841431", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767663040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767663040" }, { "id": "rs767663040", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767663040" }, { "id": "rs767663040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767663040" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 41, "end_pos": 41, "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": "115841431", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 108, "end_pos": 108, "sequence_org": "F", "sequence_mut": "A", "comment": "Impairs ATG12 stability.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 108, "end_pos": 108, "sequence_org": "F", "sequence_mut": "D", "comment": "Impairs ATG12 stability.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 108, "end_pos": 108, "sequence_org": "F", "sequence_mut": "R", "comment": "Impairs ATG12 stability.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 113, "end_pos": 113, "sequence_org": "D", "sequence_mut": "V", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 122, "end_pos": 122, "sequence_org": "C", "sequence_mut": "W", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 123, "end_pos": 123, "sequence_org": "F", "sequence_mut": "D", "comment": "Impairs ATG12 stability.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 138, "end_pos": 138, "sequence_org": "A", "sequence_mut": "R", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 139, "end_pos": 139, "sequence_org": "W", "sequence_mut": "F", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 139, "end_pos": 139, "sequence_org": "W", "sequence_mut": "Y", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 54, "end_pos": 54, "sequence_org": "K", "sequence_mut": "D", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "V", "sequence_mut": "R", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "G", "sequence_mut": "D", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "K", "sequence_mut": "D", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs E3 activity of the ATG12-ATG5 conjugate.", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "PubMed", "id": "23202584", "url": "https://glygen.org/publication/PubMed/23202584" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145782", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145782" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94817" } ], "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, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94817" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94817" } ], "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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115840913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513167.1", "url": "https://www.ensembl.org/id/ENST00000513167.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425277.1", "url": "https://www.ensembl.org/id/ENSP00000425277.1" } ] } }, { "isoform_ac": "H0YA29-1", "url": "", "sequence": { "sequence": "XSPSKMAEEPQSVLQLPTSIAAGGEGLTDVSPETTTPEPPSSAAVSPGTEEPAGDTKKKIGCEFTP", "length": 66, "header": "tr|H0YA29-1|ATG12_HUMAN Computationally mapped isoform of Ubiquitin-like protein ATG12 OS=Homo sapiens OX=9606 GN=ATG12 PE=1 SV=1 CANONICAL=O94817-1" }, "locus": { "chromosome": "5", "start_pos": 115841565, "end_pos": 115840913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505993.5", "url": "https://www.ensembl.org/id/ENST00000505993.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425948.1", "url": "https://www.ensembl.org/id/ENSP00000425948.1" } ] } }, { "isoform_ac": "H7BYD7-1", "url": "", "sequence": { "sequence": "MAEEPQSVLQLPTSIAAGGEGLTDVSPETTTPEPPSSAAVSPGTEEPAGDTKKKNDSGLWPGAVAHSCNPSTLVG", "length": 75, "header": "tr|H7BYD7-1|H7BYD7_HUMAN Computationally mapped isoform of Autophagy related 12 OS=Homo sapiens OX=9606 GN=ATG12 PE=1 SV=1 CANONICAL=O94817-1" }, "locus": { "chromosome": "5", "start_pos": 115841552, "end_pos": 115840551, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379594.7", "url": "https://www.ensembl.org/id/ENST00000379594.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000368913.3", "url": "https://www.ensembl.org/id/ENSP00000368913.3" } ] } }, { "isoform_ac": "O94817-1", "url": "", "sequence": { "sequence": "MAEEPQSVLQLPTSIAAGGEGLTDVSPETTTPEPPSSAAVSPGTEEPAGDTKKKIDILLKAVGDTPIMKTKKWAVERTRTIQGLIDFIKKFLKLVASEQLFIYVNQSFAPSPDQEVGTLYECFGSDGKLVLHYCKSQAWG", "length": 140, "header": "sp|O94817-1|ATG12_HUMAN Isoform 1 of Ubiquitin-like protein ATG12 OS=Homo sapiens OX=9606 GN=ATG12 PE=1 SV=1 CANONICAL=O94817-1" }, "locus": { "chromosome": "5", "start_pos": 115841552, "end_pos": 115831807, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509910.2", "url": "https://www.ensembl.org/id/ENST00000509910.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000425107.1", "url": "https://www.ensembl.org/id/ENSP00000425107.1" } ] } }, { "isoform_ac": "O94817-4", "url": "", "sequence": { "sequence": "MAEEPQSVLQLPTSIAAGGEGLTDVSPETTTPEPPSSAAVSPGTEEPAGDTKKKIYLCESVLCSFPRPRSWNSL", "length": 74, "header": "sp|O94817-4|ATG12_HUMAN Isoform 4 of Ubiquitin-like protein ATG12 OS=Homo sapiens OX=9606 GN=ATG12 PE=1 SV=1 CANONICAL=O94817-1" }, "locus": { "chromosome": "5", "start_pos": 115841552, "end_pos": 115832606, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000500945.2", "url": "https://www.ensembl.org/id/ENST00000500945.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000425164.1", "url": "https://www.ensembl.org/id/ENSP00000425164.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 41, "start_aa": "Ser", "end_pos": 41, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser41", "evidence": [ { "id": "O94817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94817" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The human homolog of Saccharomyces cerevisiae Apg7p is a Protein-activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Tanida I, Tanida-Miyake E, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11096062", "url": "https://glygen.org/publication/PubMed/11096062" } ] }, { "title": "Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Tanida I, Tanida-Miyake E, Komatsu M, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" }, { "database": "RefSeq", "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712" } ], "reference": [ { "type": "PubMed", "id": "11825910", "url": "https://glygen.org/publication/PubMed/11825910" } ] }, { "title": "Mammalian Apg12p, but not the Apg12p.Apg5p conjugate, facilitates LC3 processing.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Tanida I, Nishitani T, Nemoto T, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" } ], "reference": [ { "type": "PubMed", "id": "12207896", "url": "https://glygen.org/publication/PubMed/12207896" } ] }, { "title": "HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three human Atg8 homologues and delipidates microtubule-associated protein light chain 3- and GABAA receptor-associated protein-phospholipid conjugates.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tanida I, Sou YS, Ezaki J, Minematsu-Ikeguchi N, Ueno T, Kominami E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "15187094", "url": "https://glygen.org/publication/PubMed/15187094" } ] }, { "title": "Negative regulation of interferon-regulatory factor 3-dependent innate antiviral response by the prolyl isomerase Pin1.", "journal": "Nature immunology", "date": "2006", "authors": "Saitoh T, Tun-Kyi A, Ryo A, Yamamoto M, Finn G, Fujita T, Akira S, Yamamoto N, Lu KP, Yamaoka S", "evidence": [ { "database": 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"17618624", "url": "https://glygen.org/publication/PubMed/17618624" } ] }, { "title": "The Atg5 Atg12 conjugate associates with innate antiviral immune responses.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Jounai N, Takeshita F, Kobiyama K, Sawano A, Miyawaki A, Xin KQ, Ishii KJ, Kawai T, Akira S, Suzuki K, Okuda K", "evidence": [ { "database": "UniProtKB", "id": "O94817", "url": "https://www.uniprot.org/uniprot/O94817" } ], "reference": [ { "type": "PubMed", "id": "17709747", "url": "https://glygen.org/publication/PubMed/17709747" } ] }, { "title": "DUBA: a deubiquitinase that regulates type I interferon production.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Kayagaki N, Phung Q, Chan S, Chaudhari R, Quan C, O'Rourke KM, Eby M, Pietras E, Cheng G, Bazan JF, Zhang Z, Arnott D, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-936440", "url": 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