{ "uniprot_canonical_ac": "O15344-1", "uniprot_ac": "O15344", "uniprot_id": "TRI18_HUMAN", "mass": { "chemical_mass": 75251.0, "monoisotopic_mass": 75251.0 }, "refseq": { "ac": "NP_000372", "name": "E3 ubiquitin-protein ligase Midline-1 isoform 1", "summary": "The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372" }, "gene_names": [ { "name": "MID1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15344", "id": "O15344" }, { "name": "BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372", "id": "NP_000372" }, { "name": "FXY", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15344", "id": "O15344" }, { "name": "MID1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372", "id": "NP_000372" }, { "name": "RNF59", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15344", "id": "O15344" }, { "name": "TRIM18", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15344", "id": "O15344" }, { "name": "XPRF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15344", "id": "O15344" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase Midline-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15344" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "E3 ubiquitin-protein ligase Midline-1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372", "id": "NP_000372" }, { "name": "Midin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "Putative transcription factor XPRF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "RING finger protein 59", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "RING finger protein Midline-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "RING-type E3 ubiquitin transferase Midline-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "Tripartite motif-containing protein 18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15344" }, { "name": "putative transcription factor XPRF; tripartite motif protein TRIM18; zinc finger on X and Y, mouse, homolog of; tripartite motif-containing protein 18; RING finger protein 59; midline 1 RING finger protein; RING finger protein Midline-1; E3 ubiquitin-protein ligase Midline-1; Opitz/BBB syndrome; RING-type E3 ubiquitin transferase Midline-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372", "id": "NP_000372" } ], "function": [ { "annotation": "B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme Differently Than RING E3 Ligases.", "evidence": [ { "database": "RefSeq", "id": "NP_000372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372" }, { "database": "PubMed", "id": "36820504", "url": "https://glygen.org/publication/PubMed/36820504" } ] }, { "annotation": "Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5KPB2", "url": "https://www.uniprot.org/uniprot/A0A8I5KPB2#function" }, { "database": "UniProtKB", "id": "ARBA00002369", "url": "https://www.uniprot.org/uniprot/ARBA00002369#function" }, { "database": "UniProtKB", "id": "A0A8I5KR14", "url": "https://www.uniprot.org/uniprot/A0A8I5KR14#function" }, { "database": "UniProtKB", "id": "A0A6Q8PGA5", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGA5#function" }, { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344#function" }, { "database": "PubMed", "id": "11685209", "url": "https://glygen.org/publication/PubMed/11685209" }, { "database": "PubMed", "id": "10400985", "url": "https://glygen.org/publication/PubMed/10400985" }, { "database": "PubMed", "id": "22613722", "url": "https://glygen.org/publication/PubMed/22613722" }, { "database": "UniProtKB", "id": "A0A6Q8PF94", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF94#function" } ] }, { "annotation": "Irradiated lung cancer cell-derived exosomes modulate macrophage polarization by inhibiting MID1 via miR-4655-5p.", "evidence": [ { "database": "RefSeq", "id": "NP_000372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372" }, { "database": "PubMed", "id": "36709645", "url": "https://glygen.org/publication/PubMed/36709645" } ] }, { "annotation": "Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.", "evidence": [ { "database": "RefSeq", "id": "NP_000372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372" }, { "database": "PubMed", "id": "37498300", "url": "https://glygen.org/publication/PubMed/37498300" } ] }, { "annotation": "The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372" } ] }, { "annotation": "The role of anillin/Mid1p during medial division and cytokinesis: from fission yeast to cancer cells. 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"" }, { "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": 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15344", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15344" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15344", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15344" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "common_name": "Human" } ], "gene": [ { "name": "MID1", "url": "https://www.uniprot.org/uniprot/O15344", "locus": { "chromosome": "X", "start_pos": 10445310, "end_pos": 10833654, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000101871", "url": "https://www.ensembl.org/id/ENSG00000101871" } ] } } ], "crossref": [ { "id": "ENSG00000101871", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101871", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15344", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15344", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd12892", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12892", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16753", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16753", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd19822", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19822", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd19836", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19836", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "MID1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MID1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4281", "url": "https://www.ncbi.nlm.nih.gov/gene/4281", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7095", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7095", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15344", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15344*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000315", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000315", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001841", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001841", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001870", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001870", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003649", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003649", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003877", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003877", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003879", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003879", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013320", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017903", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017903", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017907", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017907", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027370", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027370", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027727", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027727", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040859", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040859", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043136", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043136", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047095", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047095", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4281", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4281", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300000", "url": "http://www.omim.org/entry/300000", "database": "MIM", "categories": [ "Other" ] }, { "id": "300552", "url": "http://www.omim.org/entry/300552", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15344", "url": "https://www.nextprot.org/entry/NX_O15344", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15344", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15344", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FCDQEPA", "url": "https://omabrowser.org/oma/group/FCDQEPA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5383069at2759", "url": "http://www.orthodb.org/?query=5383069at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24099", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24099", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24099:SF23", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24099:SF23", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2DQ5", "url": "https://www.rcsb.org/structure/2DQ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2FFW", "url": "https://www.rcsb.org/structure/2FFW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JUN", "url": "https://www.rcsb.org/structure/2JUN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IM8", "url": "https://www.rcsb.org/structure/5IM8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QRY", "url": "https://www.rcsb.org/structure/7QRY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00041", "url": "http://pfam.xfam.org/family/PF00041", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00622", "url": "http://pfam.xfam.org/family/PF00622", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00643", "url": "http://pfam.xfam.org/family/PF00643", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13445", "url": "http://pfam.xfam.org/family/PF13445", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18568", "url": "http://pfam.xfam.org/family/PF18568", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15344", "url": "https://pharos.nih.gov/targets/O15344", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15344", "url": "http://purl.obolibrary.org/obo/PR_O15344", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087X255", "url": "https://www.uniprot.org/uniprot/A0A087X255", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X255-1", "url": "https://www.uniprot.org/uniprot/A0A087X255-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF94", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF94-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGA5", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGA5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGA5-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGA5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGE7", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGE7-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPB2", "url": "https://www.uniprot.org/uniprot/A0A8I5KPB2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPB2-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPB2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPE0", "url": "https://www.uniprot.org/uniprot/A0A8I5KPE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPE0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KR14", "url": "https://www.uniprot.org/uniprot/A0A8I5KR14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KR14-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KR14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J453", "url": "https://www.uniprot.org/uniprot/C9J453", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J453-1", "url": "https://www.uniprot.org/uniprot/C9J453-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15344-1", "url": "https://www.uniprot.org/uniprot/O15344-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15344-2", "url": "https://www.uniprot.org/uniprot/O15344-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP", "length": 667, "header": "sp|O15344-1|TRI18_HUMAN Isoform 1 of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "isoforms": [ { "isoform_ac": "A0A087X255-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVETVKDQKVIGREKQQYYPRNRRKWVSNSLQARLMGRRCISRRERKLTLDVEKVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSEYLMAYLFLSLVAFFRLIAFLNLNFKGRQGRKEHTIFIDLSFLNKKVIALTCTTLVKTAG", "length": 540, "header": "tr|A0A087X255-1|TRI18_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10469515, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000616003.5", "url": "https://www.ensembl.org/id/ENST00000616003.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000484712.1", "url": "https://www.ensembl.org/id/ENSP00000484712.1" } ] } }, { "isoform_ac": "A0A6Q8PF94-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVETVKDQKVIGREKQQYYPRNRRKWVSNSLQARLMGRRCISRRERKLTLDVEKVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP", "length": 718, "header": "tr|A0A6Q8PF94-1|A0A6Q8PF94_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10449371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675073.1", "url": "https://www.ensembl.org/id/ENST00000675073.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501707.1", "url": "https://www.ensembl.org/id/ENSP00000501707.1" } ] } }, { "isoform_ac": "A0A6Q8PGA5-1", "url": "", "sequence": { "sequence": "MRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHL", "length": 371, "header": "tr|A0A6Q8PGA5-1|TRI18_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10482625, "end_pos": 10449392, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674917.1", "url": "https://www.ensembl.org/id/ENST00000674917.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502171.1", "url": "https://www.ensembl.org/id/ENSP00000502171.1" } ] } }, { "isoform_ac": "A0A6Q8PGE7-1", "url": "", "sequence": { "sequence": "MRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITE", "length": 48, "header": "tr|A0A6Q8PGE7-1|TRI18_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10482625, "end_pos": 10482482, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675358.1", "url": "https://www.ensembl.org/id/ENST00000675358.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502220.1", "url": "https://www.ensembl.org/id/ENSP00000502220.1" } ] } }, { "isoform_ac": "A0A8I5KPB2-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP", "length": 631, "header": "tr|A0A8I5KPB2-1|TRI18_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10449371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691943.1", "url": "https://www.ensembl.org/id/ENST00000691943.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508663.1", "url": "https://www.ensembl.org/id/ENSP00000508663.1" } ] } }, { "isoform_ac": "A0A8I5KPE0-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSEYLMAYLFLSLVAFFRLIAFLNLNFKGRQGRKEHTIFIDLSFLNKKVIALTCTTLVKTAG", "length": 489, "header": "tr|A0A8I5KPE0-1|A0A8I5KPE0_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10469515, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687008.1", "url": "https://www.ensembl.org/id/ENST00000687008.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508734.1", "url": "https://www.ensembl.org/id/ENSP00000508734.1" } ] } }, { "isoform_ac": "A0A8I5KR14-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP", "length": 629, "header": "tr|A0A8I5KR14-1|TRI18_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10449371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689773.1", "url": "https://www.ensembl.org/id/ENST00000689773.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509925.1", "url": "https://www.ensembl.org/id/ENSP00000509925.1" } ] } }, { "isoform_ac": "C9J453-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNS", "length": 483, "header": "tr|C9J453-1|C9J453_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10449371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413894.5", "url": "https://www.ensembl.org/id/ENST00000413894.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391154.1", "url": "https://www.ensembl.org/id/ENSP00000391154.1" } ] } }, { "isoform_ac": "O15344-1", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP", "length": 667, "header": "sp|O15344-1|TRI18_HUMAN Isoform 1 of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10449371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317552.9", "url": "https://www.ensembl.org/id/ENST00000317552.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000312678.4", "url": "https://www.ensembl.org/id/ENSP00000312678.4" } ] } }, { "isoform_ac": "O15344-2", "url": "", "sequence": { "sequence": "METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTW", "length": 552, "header": "sp|O15344-2|TRI18_HUMAN Isoform 2 of E3 ubiquitin-protein ligase Midline-1 OS=Homo sapiens OX=9606 GN=MID1 PE=1 SV=1 CANONICAL=O15344-1" }, "locus": { "chromosome": "X", "start_pos": 10567547, "end_pos": 10449616, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380782.6", "url": "https://www.ensembl.org/id/ENST00000380782.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000370159.1", "url": "https://www.ensembl.org/id/ENSP00000370159.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15344", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15344" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 511, "end_pos": 511, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344" } ], "site_lbl": "Ser511" }, { "start_pos": 90, "end_pos": 90, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser90" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15344", "url": "http://phospho.elm.eu.org/byAccession/O15344.html" }, { "database": "PubMed", "id": "11806752", "url": "https://glygen.org/publication/PubMed/11806752" } ], "site_lbl": "Ser92" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344" }, { "database": "PubMed", "id": "11371618", "url": "https://glygen.org/publication/PubMed/11371618" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15344", "url": "http://phospho.elm.eu.org/byAccession/O15344.html" }, { "database": "PubMed", "id": "11806752", "url": "https://glygen.org/publication/PubMed/11806752" }, { "database": "PubMed", "id": "18949047", "url": "https://glygen.org/publication/PubMed/18949047" } ], "site_lbl": "Ser96" }, { "start_pos": 98, "end_pos": 98, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15344", "url": "http://phospho.elm.eu.org/byAccession/O15344.html" } ], "site_lbl": "Ser98" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Inhibition of transforming growth factor-beta/SMAD signalling by the interferon-gamma/STAT pathway.", "journal": "Nature", "date": "1999", "authors": "Ulloa L, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10067896", "url": "https://glygen.org/publication/PubMed/10067896" } ] }, { "title": "The Opitz syndrome gene product, MID1, associates with microtubules.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Schweiger S, Foerster J, Lehmann T, Suckow V, Muller Y A, Walter G, Davies T, Porter H, van Bokhoven H, Lunt P W, Traub P, Ropers H H", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "10077590", "url": "https://glygen.org/publication/PubMed/10077590" } ] }, { "title": "Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.", "journal": "Human molecular genetics", "date": "1999-08", "authors": "Cainarca S, Messali S, Ballabio A, Meroni G", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "10400985", "url": "https://glygen.org/publication/PubMed/10400985" } ] }, { "title": "Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "Thiel DJ, le Du MH, Walter RL, D'Arcy A, Chene C, Fountoulakis M, Garotta G, Winkler FK, Ealick SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10986460", "url": "https://glygen.org/publication/PubMed/10986460" } ] }, { "title": "New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.", "journal": "Human molecular genetics", "date": "2000", "authors": "Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "11030761", "url": "https://glygen.org/publication/PubMed/11030761" } ] }, { "title": "The tripartite motif family identifies cell compartments.", "journal": "EMBO J.", "date": "2001", "authors": "Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci P G, Ballabio A", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "11331580", "url": "https://glygen.org/publication/PubMed/11331580" } ] }, { "title": "Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL", "evidence": [ { "database": "iPTMnet", "id": "O15344-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344-1" } ], "reference": [ { "type": "PubMed", "id": "11371618", "url": "https://glygen.org/publication/PubMed/11371618" } ] }, { "title": "MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.", "journal": "Nature genetics", "date": "2001-11", "authors": "Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers H H, Schneider R, Schweiger S", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "11685209", "url": "https://glygen.org/publication/PubMed/11685209" } ] }, { "title": "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.", "journal": "BMC cell biology", "date": "2002", "authors": "Short KM, Hopwood B, Yi Z, Cox TC", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" }, { "database": "iPTMnet", "id": "O15344", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15344" } ], "reference": [ { "type": "PubMed", "id": "11806752", "url": "https://glygen.org/publication/PubMed/11806752" } ] }, { "title": "Requirement of Ca2+ and CaMKII for Stat1 Ser-727 phosphorylation in response to IFN-gamma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Nair JS, DaFonseca CJ, Tjernberg A, Sun W, Darnell JE Jr, Chait BT, Zhang JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "11972023", "url": "https://glygen.org/publication/PubMed/11972023" } ] }, { "title": "A road map for those who don't know JAK-STAT.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Aaronson DS, Horvath CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12040185", "url": "https://glygen.org/publication/PubMed/12040185" } ] }, { "title": "Seeing the light: preassembly and ligand-induced changes of the interferon gamma receptor complex in cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2002", "authors": "Krause CD, Mei E, Xie J, Jia Y, Bopp MA, Hochstrasser RM, Pestka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12438563", "url": "https://glygen.org/publication/PubMed/12438563" } ] }, { "title": "Y-box-binding protein YB-1 mediates transcriptional repression of human alpha 2(I) collagen gene expression by interferon-gamma.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Higashi K, Inagaki Y, Suzuki N, Mitsui S, Mauviel A, Kaneko H, Nakatsuka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12446674", "url": "https://glygen.org/publication/PubMed/12446674" } ] }, { "title": "The ins and outs of STAT1 nuclear transport.", "journal": "Science's STKE : signal transduction knowledge environment", "date": "2003", "authors": "McBride KM, Reich NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12915721", "url": "https://glygen.org/publication/PubMed/12915721" } ] }, { "title": "Stoichiometry of interaction between interferon gamma and its receptor.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Fountoulakis M, Zulauf M, Lustig A, Garotta G", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": 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oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15344", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15344" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.", "journal": "Molecular genetics & genomic medicine", "date": "2023-09", "authors": "Perea-Cabrera Maryangel, Granados-Riveron Javier T, Segura-Stanford Bego\u00f1a, Moreno-Vargas Liliana M, Prada-Gracia Diego, Moran-Espinosa Mari C, Erdmenger Julio, Diaz-Garcia Hector, S\u00e1nchez-Urbina Roc\u00edo", "evidence": [ { "database": "RefSeq", "id": "NP_000372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000372" 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"database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7514165", "url": "https://glygen.org/publication/PubMed/7514165" } ] }, { "title": "Cytokine-induced expression of vascular cell adhesion molecule-1 (VCAM-1) by astrocytes and astrocytoma cell lines.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1995", "authors": "Rosenman SJ, Shrikant P, Dubb L, Benveniste EN, Ransohoff RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7530745", "url": "https://glygen.org/publication/PubMed/7530745" } ] }, { "title": "The Jak kinases differentially associate with the alpha and beta (accessory factor) chains of the interferon gamma receptor to form a functional receptor unit capable of activating STAT transcription factors.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Sakatsume M, Igarashi K, Winestock KD, Garotta G, Larner AC, Finbloom DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7615558", "url": "https://glygen.org/publication/PubMed/7615558" } ] }, { "title": "Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor.", "journal": "Nature", "date": "1995", "authors": "Walter MR, Windsor WT, Nagabhushan TL, Lundell DJ, Lunn CA, Zauodny PJ, Narula SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7617032", "url": "https://glygen.org/publication/PubMed/7617032" } ] }, { "title": "Phosphorylation and activation of the DNA binding activity of purified Stat1 by the Janus protein-tyrosine kinases and the epidermal growth factor receptor.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Quelle FW, Thierfelder W, Witthuhn BA, Tang B, Cohen S, Ihle JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7657660", "url": "https://glygen.org/publication/PubMed/7657660" } ] }, { "title": "Interaction between the components of the interferon gamma receptor complex.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7673114", "url": "https://glygen.org/publication/PubMed/7673114" } ] }, { "title": "A single phosphotyrosine residue of Stat91 required for gene activation by interferon-gamma.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Shuai K, Stark GR, Kerr IM, Darnell JE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7690989", "url": "https://glygen.org/publication/PubMed/7690989" } ] }, { "title": "Stat recruitment by tyrosine-phosphorylated cytokine receptors: an ordered reversible affinity-driven process.", "journal": "Immunity", "date": "1995", "authors": "Greenlund AC, Morales MO, Viviano BL, Yan H, Krolewski J, Schreiber RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7796299", "url": "https://glygen.org/publication/PubMed/7796299" } ] }, { "title": "Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91).", "journal": "The EMBO journal", "date": "1994", "authors": "Greenlund AC, Farrar MA, Viviano BL, Schreiber RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "8156998", "url": "https://glygen.org/publication/PubMed/8156998" } ] }, { "title": "IFN-gamma up-regulates platelet-activating factor receptor gene expression in human monocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1994", "authors": "Ouellet S, Muller E, Rola-Pleszczynski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "8176225", "url": "https://glygen.org/publication/PubMed/8176225" } ] }, { "title": "Interferon gamma-induced transcription of the high-affinity Fc receptor for IgG requires assembly of a complex that includes the 91-kDa subunit of transcription factor ISGF3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Pearse RN, Feinman R, Shuai K, Darnell JE Jr, Ravetch JV", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "8483949", "url": "https://glygen.org/publication/PubMed/8483949" } ] }, { "title": "Transcriptional regulation of the human intercellular adhesion molecule-1 gene: a short overview.", "journal": "Immunobiology", "date": "1995", "authors": "Stratowa C, Audette M", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "8530158", "url": "https://glygen.org/publication/PubMed/8530158" } ] }, { "title": "Identification of an interferon-gamma receptor alpha chain sequence required for JAK-1 binding.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Kaplan DH, Greenlund AC, Tanner JW, Shaw AS, Schreiber RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "8550631", "url": "https://glygen.org/publication/PubMed/8550631" } ] }, { "title": "Kinase-negative mutants of JAK1 can sustain interferon-gamma-inducible gene expression but not an antiviral state.", "journal": "The EMBO journal", "date": "1996", "authors": "Briscoe J, Rogers NC, Witthuhn BA, Watling D, Harpur AG, Wilks AF, Stark GR, Ihle JN, Kerr IM", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "8631301", "url": "https://glygen.org/publication/PubMed/8631301" } ] }, { "title": "Activation of Jak2 catalytic activity requires phosphorylation of Y1007 in the kinase activation loop.", "journal": "Molecular and cellular biology", "date": "1997", "authors": "Feng J, Witthuhn BA, Matsuda T, Kohlhuber F, Kerr IM, Ihle JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "9111318", "url": "https://glygen.org/publication/PubMed/9111318" } ] }, { "title": "Cellular responses to interferon-gamma.", "journal": "Annual review of immunology", "date": "1997", "authors": "Boehm U, Klamp T, Groot M, Howard JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "9143706", "url": "https://glygen.org/publication/PubMed/9143706" } ] }, { "title": "Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.", "journal": "Nature genetics", "date": "1997", "authors": "Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "9354791", "url": "https://glygen.org/publication/PubMed/9354791" } ] }, { "title": "The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.", "journal": "Hum. 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Genet.", "date": "1998", "authors": "Perry J, Feather S, Smith A, Palmer S, Ashworth A", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "9425238", "url": "https://glygen.org/publication/PubMed/9425238" } ] }, { "title": "Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.", "journal": "American journal of human genetics", "date": "1998", "authors": "Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "reference": [ { "type": "PubMed", "id": "9718340", "url": "https://glygen.org/publication/PubMed/9718340" } ] }, { "title": "Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.", "journal": "Genomics", "date": 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"pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "pmid": "" }, { "name": "positive regulation of stress-activated MAPK cascade", "id": "GO:0032874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032874", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "pmid": "" }, { "name": "protein localization to microtubule", "id": "GO:0035372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035372", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 226, "end_pos": 228, "annotation": "n_glycosylation_sequon" }, { "start_pos": 254, "end_pos": 256, "annotation": "n_glycosylation_sequon" }, { "start_pos": 334, "end_pos": 336, "annotation": "n_glycosylation_sequon" }, { "start_pos": 356, "end_pos": 358, "annotation": "n_glycosylation_sequon" }, { "start_pos": 45, "end_pos": 47, "annotation": "n_glycosylation_sequon" }, { "start_pos": 503, "end_pos": 505, "annotation": "n_glycosylation_sequon" }, { "start_pos": 612, "end_pos": 614, "annotation": "n_glycosylation_sequon" }, { "start_pos": 76, "end_pos": 78, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated on serine and threonine residues.", "evidence": [ { "database": "UniProtKB", "id": "O15344", "url": "https://www.uniprot.org/uniprot/O15344" }, { "database": "PubMed", "id": "11806752", "url": "https://glygen.org/publication/PubMed/11806752" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-1031716", "name": "Expression of IFNG-stimulated genes", "equation": "", "summary": "IFN-gamma stimulates gene expression of about 200 genes which include the primary response genes like IRFs, Fc-gamma receptor (FCGR), GBPs (guanylate-binding proteins) and also major histocompatibility complex (MHC) class I and class II molecules, proteins involved in antigen presentation, antiviral proteins like PKR, OAS proteins etc. A wonderful list of most of the IFN-gamma inducible proteins with corresponding literature are mentioned in the review article and the supplementary document by Boehm et al 1997.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P29590-1", "P13284-1", "P32456-1", "Q9BVG3-1", "Q9C035-1", "Q9Y6K5-1", "Q9BYJ4-1", "Q9BZR9-1", "Q9H8W5-1", "Q9UPQ4-1", "Q9Y577-1", "P00973-1", "Q12899-1", "Q9C040-1", "Q8N8V2-1", "Q9H0R5-1", "O00635-1", "Q6ZN66-1", "O75382-1", "O15344-1", "Q14258-1", "P33076-1", "P19474-1", "Q9BZY9-1", "P29728-1", "P32455-1", "Q96PP8-1", "Q96PP9-1", "Q9C030-1", "Q6AZZ1-1", "Q8IWZ4-1", "Q8IYM9-1" ], "evidence": [ { "id": "R-HSA-1031716", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1031716" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00635", "gene_name": "TRIM38", "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": "O00635", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00635" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O00635", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00635" } ] } ] }, { "uniprot_ac": "O15344", "gene_name": "MID1", "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": "O15344", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15344" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O15344", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15344" } ] } ] }, { "uniprot_ac": "O75382", "gene_name": "TRIM3", "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": "O75382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75382" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O75382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75382" } ] } ] }, { "uniprot_ac": "P00973", "gene_name": "OAS1", "activity": [ { "ec_number": "2.7.7.84", "activity": "3 ATP = 5'-triphosphoadenylyl-(2'->5')-adenylyl-(2'->5')-adenosine + 2 diphosphate.", "evidence": [ { "id": "P00973", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00973" } ] }, { "ec_number": "2.7.7.84", "activity": "", "evidence": [ { "id": "P00973", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00973" } ] } ] }, { "uniprot_ac": "P13284", "gene_name": "IFI30", "activity": [ { "ec_number": "1.8.-.-", "activity": "", "evidence": [ { "id": "P13284", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13284" } ] } ] }, { "uniprot_ac": "P19474", "gene_name": "TRIM21", "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": "P19474", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19474" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P19474", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19474" } ] } ] }, { "uniprot_ac": "P29590", "gene_name": "PML", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P29590", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29590" } ] } ] }, { "uniprot_ac": "P29728", "gene_name": "OAS2", "activity": [ { "ec_number": "2.7.7.84", "activity": "3 ATP = 5'-triphosphoadenylyl-(2'->5')-adenylyl-(2'->5')-adenosine + 2 diphosphate.", "evidence": [ { "id": "P29728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29728" } ] }, { "ec_number": "2.7.7.84", "activity": "", "evidence": [ { "id": "P29728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29728" } ] } ] }, { "uniprot_ac": "P32455", "gene_name": "GBP1", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "P32455", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32455" } ] }, { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32455", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32455" } ] } ] }, { "uniprot_ac": "P32456", "gene_name": "GBP2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32456", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32456" } ] } ] }, { "uniprot_ac": "P33076", "gene_name": "CIITA", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P33076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33076" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P33076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33076" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P33076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33076" } ] } ] }, { "uniprot_ac": "Q12899", "gene_name": "TRIM26", "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": "Q12899", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12899" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q12899", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12899" } ] } ] }, { "uniprot_ac": "Q14258", "gene_name": "TRIM25", "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": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] }, { "ec_number": "6.3.2.n3", "activity": "ATP + [ISG15] + [protein]-lysine = AMP + diphosphate + [protein]-N-ISGyllysine.", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] }, { "ec_number": "6.3.2.n3", "activity": "", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] } ] }, { "uniprot_ac": "Q6AZZ1", "gene_name": "TRIM68", "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": "Q6AZZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AZZ1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q6AZZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AZZ1" } ] } ] }, { "uniprot_ac": "Q6ZN66", "gene_name": "GBP6", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q6ZN66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZN66" } ] } ] }, { "uniprot_ac": "Q8IWZ4", "gene_name": "TRIM48", "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": "Q8IWZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IWZ4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IWZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IWZ4" } ] } ] }, { "uniprot_ac": "Q8IYM9", "gene_name": "TRIM22", "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": "Q8IYM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYM9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IYM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYM9" } ] } ] }, { "uniprot_ac": "Q8N8V2", "gene_name": "GBP7", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "Q8N8V2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N8V2" } ] }, { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q8N8V2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N8V2" } ] } ] }, { "uniprot_ac": "Q96PP8", "gene_name": "GBP5", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q96PP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PP8" } ] } ] }, { "uniprot_ac": "Q96PP9", "gene_name": "GBP4", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q96PP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PP9" } ] } ] }, { "uniprot_ac": "Q9BVG3", "gene_name": "TRIM62", "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": "Q9BVG3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BVG3" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BVG3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BVG3" } ] } ] }, { "uniprot_ac": "Q9BYJ4", "gene_name": "TRIM34", "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": "Q9BYJ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYJ4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BYJ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYJ4" } ] } ] }, { "uniprot_ac": "Q9BZR9", "gene_name": "TRIM8", "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": "Q9BZR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZR9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BZR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZR9" } ] } ] }, { "uniprot_ac": "Q9BZY9", "gene_name": "TRIM31", "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": "Q9BZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZY9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZY9" } ] } ] }, { "uniprot_ac": "Q9C030", "gene_name": "TRIM6", "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": "Q9C030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C030" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C030" } ] } ] }, { "uniprot_ac": "Q9C035", "gene_name": "TRIM5", "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": "Q9C035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C035" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C035" } ] } ] }, { "uniprot_ac": "Q9C040", "gene_name": "TRIM2", "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": "Q9C040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C040" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C040" } ] } ] }, { "uniprot_ac": "Q9H0R5", "gene_name": "GBP3", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q9H0R5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0R5" } ] } ] }, { "uniprot_ac": "Q9H8W5", "gene_name": "TRIM45", "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": "Q9H8W5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8W5" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9H8W5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8W5" } ] } ] }, { "uniprot_ac": "Q9UPQ4", "gene_name": "TRIM35", "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": "Q9UPQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPQ4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9UPQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPQ4" } ] } ] }, { "uniprot_ac": "Q9Y577", "gene_name": "TRIM17", "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": "Q9Y577", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y577" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9Y577", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y577" } ] } ] }, { "uniprot_ac": "Q9Y6K5", "gene_name": 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{ "start_pos": 45, "end_pos": 47 }, { "start_pos": 503, "end_pos": 505 }, { "start_pos": 612, "end_pos": 614 }, { "start_pos": 76, "end_pos": 78 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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", 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