{ "uniprot_canonical_ac": "O60337-4", "uniprot_ac": "O60337", "uniprot_id": "MARH6_HUMAN", "mass": { "chemical_mass": 102545.0, "monoisotopic_mass": 102545.0 }, "refseq": { "ac": "NP_001257589", "name": "E3 ubiquitin-protein ligase MARCHF6 isoform 2", "summary": "This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" }, "gene_names": [ { "name": "MARCHF6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60337", "id": "O60337" }, { "name": "DOA10; FAME3; FCMTE3; MARCH-VI; MARCH6; RNF176; TEB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589", "id": "NP_001257589" }, { "name": "KIAA0597", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60337", "id": "O60337" }, { "name": "MARCH6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60337", "id": "O60337" }, { "name": "MARCHF6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589", "id": "NP_001257589" }, { "name": "RNF176", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60337", "id": "O60337" }, { "name": "TEB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60337", "id": "O60337" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase MARCHF6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60337" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "Doa10 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "E3 ubiquitin-protein ligase MARCHF6 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589", "id": "NP_001257589" }, { "name": "MARCH-VI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "Membrane-associated RING finger protein 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "Membrane-associated RING-CH protein VI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "Protein TEB-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "RING finger protein 176", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "RING-type E3 ubiquitin transferase MARCHF6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60337" }, { "name": "membrane-associated RING-CH protein VI; E3 ubiquitin-protein ligase MARCH6; RING finger protein 176; membrane-associated RING finger protein 6; doa10 homolog; membrane-associated RING-CH finger protein 6; membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase; membrane associated ring finger 6; RING-type E3 ubiquitin transferase MARCH6; RING-type E3 ubiquitin transferase MARCHF6; E3 ubiquitin-protein ligase MARCHF6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589", "id": "NP_001257589" } ], "function": [ { "annotation": "Analysis of yeast endoplasmic reticulum-localized ubiquitin ligase Doa10 and comparison with its human ortholog TEB4", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" }, { "database": "PubMed", "id": "16373356", "url": "https://glygen.org/publication/PubMed/16373356" } ] }, { "annotation": "E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation (PubMed:15673284). Promotes ubiquitination of DIO2, leading to its degradation (PubMed:19651899). Promotes ubiquitination of SQLE, leading to its degradation (PubMed:24449766). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1 (PubMed:15673284).", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337#function" }, { "database": "PubMed", "id": "15673284", "url": "https://glygen.org/publication/PubMed/15673284" }, { "database": "PubMed", "id": "19651899", "url": "https://glygen.org/publication/PubMed/19651899" }, { "database": "PubMed", "id": "24449766", "url": "https://glygen.org/publication/PubMed/24449766" } ] }, { "annotation": "MARCH6 promotes Papillary Thyroid Cancer development by destabilizing DHX9. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" }, { "database": "PubMed", "id": "34512155", "url": "https://glygen.org/publication/PubMed/34512155" } ] }, { "annotation": "MARCH6 promotes hepatocellular carcinoma development through up-regulation of ATF2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" }, { "database": "PubMed", "id": "34273954", "url": "https://glygen.org/publication/PubMed/34273954" } ] }, { "annotation": "The E3 ubiquitin ligase MARCHF6 as a metabolic integrator in cholesterol synthesis and beyond. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" }, { "database": "PubMed", "id": "33049405", "url": "https://glygen.org/publication/PubMed/33049405" } ] }, { "annotation": "The MARCH6-SQLE Axis Controls Endothelial Cholesterol Homeostasis and Angiogenic Sprouting.", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" }, { "database": "PubMed", "id": "32755570", "url": "https://glygen.org/publication/PubMed/32755570" } ] }, { "annotation": "This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" } ] } ], "disease": [ { "disease_id": "DOID:0111695", "recommended_name": { "id": "DOID:0111695", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111695", "name": "familial adult myoclonic epilepsy 3", "description": "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2." }, "synonyms": [ { "id": "DOID:0111695", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111695", "name": "FAME3", "description": "" }, { "id": "DOID:0111695", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111695", "name": "FCMTE3", "description": "" }, { "id": "DOID:0111695", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111695", "name": "familial cortical myoclonic tremor and epilepsy 3", "description": "" }, { "id": "MONDO:0013322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013322", "name": "epilepsy, familial adult myoclonic, 3", "description": "" }, { "id": "MONDO:0013322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013322", "name": "FAME3", "description": "" }, { "id": "MONDO:0013322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013322", "name": "cortical myoclonic tremor with epilepsy, familial, 3", "description": "" }, { "id": "MONDO:0013322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013322", "name": "epilepsy, familial ADULT myoclonic, 3", "description": "" }, { "id": "MIM:613608", "resource": "MIM", "url": "https://www.omim.org/entry/613608", "name": "Epilepsy, familial adult myoclonic, 3", "description": "Epilepsy, familial adult myoclonic, 3" } ], "evidence": [ { "id": "613608", "database": "MIM", "url": "https://www.omim.org/entry/613608" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 9, "end_pos": 9, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes auto-ubiquitination. Loss of ubiquitin ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" }, { "database": "PubMed", "id": "15673284", "url": "https://glygen.org/publication/PubMed/15673284" }, { "database": "PubMed", "id": "24449766", "url": "https://glygen.org/publication/PubMed/24449766" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000145495", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000145495" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O60337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60337" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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"categories": [ "Protein" ] }, { "id": "O60337-6", "url": "https://www.uniprot.org/uniprot/O60337-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFAFTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVVGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLLGVTAEMQNLVHRRIYPFLLMVVVLMAILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGSSPPPPQSSQE", "length": 910, "header": "sp|O60337-4|MARH6_HUMAN Isoform 4 of E3 ubiquitin-protein ligase MARCHF6 OS=Homo sapiens OX=9606 GN=MARCHF6 PE=1 SV=2 CANONICAL=O60337-4" }, "isoforms": [ { "isoform_ac": "O60337-4", "url": "", "sequence": { "sequence": "MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFAFTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVVGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLLGVTAEMQNLVHRRIYPFLLMVVVLMAILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGSSPPPPQSSQE", "length": 910, "header": "sp|O60337-4|MARH6_HUMAN Isoform 4 of E3 ubiquitin-protein ligase MARCHF6 OS=Homo sapiens OX=9606 GN=MARCHF6 PE=1 SV=2 CANONICAL=O60337-4" }, "locus": { "chromosome": "5", "start_pos": 10433681, "end_pos": 10353899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000274140.10", "url": "https://www.ensembl.org/id/ENST00000274140.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000274140.4", "url": "https://www.ensembl.org/id/ENSP00000274140.4" } ] } }, { "isoform_ac": "O60337-5", "url": "", "sequence": { "sequence": "MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFAFTPSRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVVGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLLGVTAEMQNLVHRRIYPFLLMVVVLMAILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGSSPPPPQSSQE", "length": 862, "header": "sp|O60337-5|MARH6_HUMAN Isoform 5 of E3 ubiquitin-protein ligase MARCHF6 OS=Homo sapiens OX=9606 GN=MARCHF6 PE=1 SV=2 CANONICAL=O60337-4" }, "locus": { "chromosome": "5", "start_pos": 10433681, "end_pos": 10353899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449913.6", "url": "https://www.ensembl.org/id/ENST00000449913.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414643.2", "url": "https://www.ensembl.org/id/ENSP00000414643.2" } ] } }, { "isoform_ac": "O60337-6", "url": "", "sequence": { "sequence": "MDTAEEGRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVVGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLLGVTAEMQNLVHRRIYPFLLMVVVLMAILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGSSPPPPQSSQE", "length": 805, "header": "sp|O60337-6|MARH6_HUMAN Isoform 6 of E3 ubiquitin-protein ligase MARCHF6 OS=Homo sapiens OX=9606 GN=MARCHF6 PE=1 SV=2 CANONICAL=O60337-4" }, "locus": { "chromosome": "5", "start_pos": 10433681, "end_pos": 10353899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503788.5", "url": "https://www.ensembl.org/id/ENST00000503788.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425930.1", "url": "https://www.ensembl.org/id/ENSP00000425930.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gonzalez DS, Karaveg K, Vandersall-Nairn AS, Lal A, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10409699", "url": "https://glygen.org/publication/PubMed/10409699" } ] }, { "title": "Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity.", "journal": "Biochemistry", "date": "2000", "authors": "Arnold SM, Fessler LI, Fessler JH, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10694380", "url": "https://glygen.org/publication/PubMed/10694380" } ] }, { "title": "A conserved ubiquitin ligase of the nuclear envelope/endoplasmic reticulum that functions in both ER-associated and Matalpha2 repressor degradation.", "journal": "Genes Dev.", "date": "2001", "authors": "Swanson R, Locher M, Hochstrasser M", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "reference": [ { "type": "PubMed", "id": "11641273", "url": "https://glygen.org/publication/PubMed/11641273" } ] }, { "title": "The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Arnold SM, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "12913004", "url": "https://glygen.org/publication/PubMed/12913004" } ] }, { "title": "TEB4 is a C4HC3 RING finger-containing ubiquitin ligase of the endoplasmic reticulum.", "journal": "The Biochemical journal", "date": "2005", "authors": "Hassink G, Kikkert M, van Voorden S, Lee SJ, Spaapen R, van Laar T, Coleman CS, Bartee E, Fruh K, Chau V, Wiertz E", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "reference": [ { "type": "PubMed", "id": "15673284", "url": "https://glygen.org/publication/PubMed/15673284" } ] }, { "title": "Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Karaveg K, Siriwardena A, Tempel W, Liu ZJ, Glushka J, Wang BC, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "15713668", "url": "https://glygen.org/publication/PubMed/15713668" } ] }, { "title": "Membrane topology of the yeast endoplasmic reticulum-localized ubiquitin ligase Doa10 and comparison with its human ortholog TEB4 (MARCH-VI).", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Kreft SG, Wang L, Hochstrasser M", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" }, { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" } ], "reference": [ { "type": "PubMed", "id": "16373356", "url": "https://glygen.org/publication/PubMed/16373356" } ] }, { "title": "EDEM3, a soluble EDEM homolog, enhances glycoprotein endoplasmic reticulum-associated degradation and mannose trimming.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hirao K, Natsuka Y, Tamura T, Wada I, Morito D, Natsuka S, Romero P, Sleno B, Tremblay LO, Herscovics A, Nagata K, Hosokawa N", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "16431915", "url": "https://glygen.org/publication/PubMed/16431915" } ] }, { "title": "Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Avezov E, Frenkel Z, Ehrlich M, Herscovics A, Lederkremer GZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18003979", "url": "https://glygen.org/publication/PubMed/18003979" } ] }, { "title": "OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD.", "journal": "Nature cell biology", "date": "2008", "authors": "Christianson JC, Shaler TA, Tyler RE, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18264092", "url": "https://glygen.org/publication/PubMed/18264092" } ] }, { "title": "A dual task for the Xbp1-responsive OS-9 variants in the mammalian endoplasmic reticulum: inhibiting secretion of misfolded protein conformers and enhancing their disposal.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Bernasconi R, Pertel T, Luban J, Molinari M", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18417469", "url": "https://glygen.org/publication/PubMed/18417469" } ] }, { "title": "A cell-based reglucosylation assay demonstrates the role of GT1 in the quality control of a maturing glycoprotein.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Pearse BR, Gabriel L, Wang N, Hebert DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18426978", "url": "https://glygen.org/publication/PubMed/18426978" } ] }, { "title": "Mammalian OS-9 is upregulated in response to endoplasmic reticulum stress and facilitates ubiquitination of misfolded glycoproteins.", "journal": "Journal of molecular biology", "date": "2009", "authors": "Alcock F, Swanton E", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "19084021", "url": "https://glygen.org/publication/PubMed/19084021" } ] }, { "title": "The E3 ubiquitin ligase TEB4 mediates degradation of type 2 iodothyronine deiodinase.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Zavacki AM, Arrojo E Drigo R, Freitas BC, Chung M, Harney JW, Egri P, Wittmann G, Fekete C, Gereben B, Bianco AC", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "reference": [ { "type": "PubMed", "id": "19651899", "url": "https://glygen.org/publication/PubMed/19651899" } ] }, { "title": "The mammalian endoplasmic reticulum-associated degradation system.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2013", "authors": "Olzmann JA, Kopito RR, Christianson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "23232094", "url": "https://glygen.org/publication/PubMed/23232094" } ] }, { "title": "The E3 ubiquitin ligase MARCH6 degrades squalene monooxygenase and affects 3-hydroxy-3-methyl-glutaryl coenzyme A reductase and the cholesterol synthesis pathway.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Zelcer N, Sharpe LJ, Loregger A, Kristiana I, Cook EC, Phan L, Stevenson J, Brown AJ", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "reference": [ { "type": "PubMed", "id": "24449766", "url": "https://glygen.org/publication/PubMed/24449766" } ] }, { "title": "EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Ninagawa S, Okada T, Sumitomo Y, Kamiya Y, Kato K, Horimoto S, Ishikawa T, Takeda S, Sakuma T, Yamamoto T, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "25092655", "url": "https://glygen.org/publication/PubMed/25092655" } ] }, { "title": "Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.", "journal": "Nat. Commun.", "date": "2019", "authors": "Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kuhnel T, Schroder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "reference": [ { "type": "PubMed", "id": "31664039", "url": "https://glygen.org/publication/PubMed/31664039" } ] }, { "title": "The MARCH6-SQLE Axis Controls Endothelial Cholesterol Homeostasis and Angiogenic Sprouting.", "journal": "Cell reports", "date": "2020", "authors": "Tan JME, van der Stoel MM, van den Berg M, van Loon NM, Moeton M, Scholl E, van der Wel NN, Kovacevic I, Hordijk PL, Loregger A, Huveneers S, Zelcer N", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" } ], "reference": [ { "type": "PubMed", "id": "32755570", "url": "https://glygen.org/publication/PubMed/32755570" } ] }, { "title": "The E3 ubiquitin ligase MARCHF6 as a metabolic integrator in cholesterol synthesis and beyond.", "journal": "Biochimica et biophysica acta. Molecular and cell biology of lipids", "date": "2021", "authors": "Scott NA, Sharpe LJ, Brown AJ", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" } ], "reference": [ { "type": "PubMed", "id": "33049405", "url": "https://glygen.org/publication/PubMed/33049405" } ] }, { "title": "MARCH6 promotes hepatocellular carcinoma development through up-regulation of ATF2.", "journal": "BMC cancer", "date": "2021", "authors": "Sun J, Dong Z, Chang Z, Liu H, Jiang Q, Zhang D, Lu S, Jia X, Wu D, Ge A, Zhao P, Wang J, Lu Y", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" } ], "reference": [ { "type": "PubMed", "id": "34273954", "url": "https://glygen.org/publication/PubMed/34273954" } ] }, { "title": "MARCH6 promotes Papillary Thyroid Cancer development by destabilizing DHX9.", "journal": "International journal of biological sciences", "date": "2021", "authors": "Liu Y, Xu S, Huang Y, Liu S, Xu Z, Wei M, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_001257589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257589" } ], "reference": [ { "type": "PubMed", "id": "34512155", "url": "https://glygen.org/publication/PubMed/34512155" } ] } ], "pathway": [ { "id": "R-HSA-901032", "name": "ER Quality Control Compartment (ERQC)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032", "resource": "Reactome", "description": "ER Quality Control Compartment (ERQC)" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AW75-1", "protein_name": "RING-type E3 ubiquitin transferase", "gene_name": "Marchf6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFAFTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPVGGNGAENPAADQPANPAGENAVLGENPDAQDGQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHALATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSLLPHFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEESENSANQQVNNNQPARNNNAVPAGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVLVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIIRKLAAPVISVLLLSLCIPYVIASGVVPLLGVTAEMQNLVHRRIYPFLLMVVVLMGILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGPSTPPPVSSQE", "length": 906 }, "evidence": [ { "id": "45923120", "url": "http://www.informatics.jax.org/homology/45923120", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6ZQ89-1", "protein_name": "E3 ubiquitin-protein ligase MARCHF6", "gene_name": "Marchf6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFAFTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFTGSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAAPPFNAAGHHQNEAPVGGNGAENPAADQPANPAGENAVLGENPDAQDGQAEEEEEDNEEEDDAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLFILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHALATLVKFHRSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTTMFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRFILSVIVFGSIVLLMLWLPIRIIKSLLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALLEQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQPARNNNAVPAGEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGRWLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVLVAWMPQGRRVIFQKVKEWSLMIMKTLIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMGPQWWLKTVIEQVYANGIRNIDLHYIIRKLAAPVISVLLLSLCVPYVIASGAVPLLGVTAEMQNLVHRRIYPFLLMVVVLMGILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGPSTPPPVSSQE", "length": 909 }, "evidence": [ { "id": "45923120", "url": "http://www.informatics.jax.org/homology/45923120", "database": "MGI" }, { "id": "O60337", "url": "https://omabrowser.org/oma/group/O60337/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W023-1", "protein_name": "RING-type E3 ubiquitin transferase", "gene_name": "Dmel\\CG1317", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MDDLSQGDICRVCRCEAQPDRPLFYPCICTGSIKYIHQDCLMLWMRYSHKEYCELCSYSFSFQPIYAPDMPRVLPIKDVLVGLMSAVLEGARCWLHYTLVGLAWFGVVPLSAYRTYRYLFRASSFDMILTLPFDIFSVENLASDAFRGCFVVTCTLLSFIGLVWLREQILHGGGPDWLERDDAPLQAAAANPAPDPAAEAAPQPQDDNNNADDNEAPAPADNDGQDAQAQDAAPAAAAPVVDADADEQNWNPMEWDRAAEELTWERLLGLDGSLVFLEHVFWIISLNTMFIFTFAFCPYCVGNFILSSMDLLQPEKPLLHFHGLITTLFGYCCIGLTLVVLHFFSRVFRLRRVCWFIGLCYIVVKVSLLSVLEIGVLPLICGWWLDICSLPLLDASLKDRKESFKAAPGTSLFVHWMFGMVYVYYFAAFVSLLREVLRPGVLWIFRNVNDPDFSPIQEMIHVPIVRHIRRLVASAMIFGFAVLLMLWLPIRILQVVCPDFLPYALSGDSAVNLQLLLLQIVLPGFFEQTQTRIWLKGLLRIWCTAVAWLLGIRSYLLPAPEPEPEIPAAGEEGVENAAGENENQEGEAADAAAQPPAPPPPPPPPVEPAPAPRNLAAAHQAIMQRDAPVGFQPYDKPSLFALRLCALLALMCLSIVCAAMLTLTVPVYIGRRLMLIWSSQPDEKAAGAAAAEGAGEVVENLDPIDPEGARKNERLLRSHELYTAELGGYLCWIVCRVVAAVVTLLPQGRAAIVDKIKHWVRVALQYALPVLTLLGIFVLVPLLIGLLIELAVVIPLRVPLRKTPIHFLWEDWALGVLYCKIAIALTMMGPDWHLKRALDRAYMDGLRDFDLKFVMRDLAVPVVTTIGLALAIPYVMAHMMFPIFLADAYAQHVVARLVYPVSFIVVGSICILLFQIDQLKKLYLSIKVDKYLVGQRLVNYEHRKKQQQQQEEEKEQQRAARELRENQERDREREREQLVQELELAELL", "length": 988 }, "evidence": [ { "id": "O60337", "url": "https://omabrowser.org/oma/group/O60337/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ER ubiquitin ligase complex", "id": "GO:0000835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000835", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ubiquitin-dependent ERAD pathway", "id": "GO:0030433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030433", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Auto-ubiquitinated, which results in proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O60337", "url": "https://www.uniprot.org/uniprot/O60337" }, { "database": "PubMed", "id": "15673284", "url": "https://glygen.org/publication/PubMed/15673284" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-8867288", "name": "OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5", "equation": "", "summary": "Proteins with major folding defects are extracted from futile folding cycles in the calnexin chaperone system and the ER Quality Control Compartment, and are translocated back to the cytosol for ER-associated degradation (ERAD). The N-glycan is used as a signal to distinguish proteins to be degraded, by direct binding to a ubiquitin ligase complex composed of, minimally, an E3 ubiquitin-protein ligase, protein sel-1 homolog 1 (SEL1L), derlin-2 (DERL2) and protein OS-9 (OS9) (Christianson et al. 2008, Bernasconi et al. 2008, Alcock & Swanton 2009; review Olzmann et al. 2013).", "cellular_location": "cytosol, endoplasmic reticulum membrane, endoplasmic reticulum quality control compartment", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96GF1-1", "Q86TM6-1", "Q8WU17-1", "O00237-1", "Q99942-1", "Q9UKV5-1", "O60858-1", "O60337-4" ], "evidence": [ { "id": "R-HSA-8867288", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867288" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00237", "gene_name": "RNF103", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] } ] }, { "uniprot_ac": "O60337", "gene_name": "MARCHF6", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] } ] }, { "uniprot_ac": "O60858", "gene_name": "TRIM13", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] } ] }, { "uniprot_ac": "Q86TM6", "gene_name": "SYVN1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] } ] }, { "uniprot_ac": "Q8WU17", "gene_name": "RNF139", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q8WU17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8WU17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ] } ] }, { "uniprot_ac": "Q96GF1", "gene_name": "RNF185", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] } ] }, { "uniprot_ac": "Q99942", "gene_name": "RNF5", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] } ] }, { "uniprot_ac": "Q9UKV5", "gene_name": "AMFR", "activity": [ { "ec_number": "2.3.2.36", "activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-cysteine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-S-ubiquitinyl-L-cysteine.", "evidence": [ { "id": "Q9UKV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKV5" } ] }, { "ec_number": "2.3.2.36", "activity": "", "evidence": [ { "id": "Q9UKV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKV5" } ] } ] } ], "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": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "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_reported", "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_reported_with_glycan", "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 22 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }