{ "uniprot_canonical_ac": "O15503-1", "uniprot_ac": "O15503", "uniprot_id": "INSI1_HUMAN", "mass": { "chemical_mass": 29987.0, "monoisotopic_mass": 29987.0 }, "refseq": { "ac": "NP_001333519", "name": "insulin-induced gene 1 protein isoform 4", "summary": "This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, "gene_names": [ { "name": "INSIG1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15503", "id": "O15503" }, { "name": "CL6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519", "id": "NP_001333519" }, { "name": "INSIG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519", "id": "NP_001333519" } ], "protein_names": [ { "name": "Insulin-induced gene 1 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15503" }, { "name": "INSIG-1 membrane protein; insulin-induced gene 1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519", "id": "NP_001333519" }, { "name": "INSIG-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15503" }, { "name": "insulin-induced gene 1 protein isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519", "id": "NP_001333519" } ], "function": [ { "annotation": "A novel protein encoded by circINSIG1 reprograms cholesterol metabolism by promoting the ubiquitin-dependent degradation of INSIG1 in colorectal cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, { "database": "PubMed", "id": "37087475", "url": "https://glygen.org/publication/PubMed/37087475" } ] }, { "annotation": "INSIG-1 plays a role in regulating cholesterol concentration in human cells", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, { "database": "PubMed", "id": "12242342", "url": "https://glygen.org/publication/PubMed/12242342" } ] }, { "annotation": "INSIG1 and p41 Arp2/3 complex (p41-Arc)reduced expression might be involved in gastric cancer development or progression", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, { "database": "PubMed", "id": "12115587", "url": "https://glygen.org/publication/PubMed/12115587" } ] }, { "annotation": "Insulin-induced genes INSIG1 and INSIG2 mediate oxysterol-dependent activation of the PERK-eIF2alpha-ATF4 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, { "database": "PubMed", "id": "34298014", "url": "https://glygen.org/publication/PubMed/34298014" } ] }, { "annotation": "Mediates feedback control of cholesterol synthesis.", "evidence": [ { "database": "UniProtKB", "id": "H7C5L3", "url": "https://www.uniprot.org/uniprot/H7C5L3#function" }, { "database": "UniProtKB", "id": "RU241113", "url": "https://www.uniprot.org/uniprot/RU241113#function" }, { "database": "UniProtKB", "id": "F5H6P3", "url": "https://www.uniprot.org/uniprot/F5H6P3#function" } ] }, { "annotation": "Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12202038, PubMed:12535518, PubMed:16168377, PubMed:16399501, PubMed:16606821, PubMed:32322062). Acts as a negative regulator of cholesterol biosynthesis by mediating the retention of the SCAP-SREBP complex in the endoplasmic reticulum, thereby blocking the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12202038, PubMed:16399501, PubMed:32322062). Binds oxysterol, including 25-hydroxycholesterol, regulating interaction with SCAP and retention of the SCAP-SREBP complex in the endoplasmic reticulum (PubMed:32322062). In presence of oxysterol, interacts with SCAP, retaining the SCAP-SREBP complex in the endoplasmic reticulum, thereby preventing SCAP from escorting SREBF1/SREBP1 and SREBF2/SREBP2 to the Golgi (PubMed:15899885, PubMed:32322062). Sterol deprivation or phosphorylation by PCK1 reduce oxysterol-binding, disrupting the interaction between INSIG1 and SCAP, thereby promoting Golgi transport of the SCAP-SREBP complex, followed by processing and nuclear translocation of SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:32322062). Also regulates cholesterol synthesis by regulating degradation of HMGCR: initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligases AMFR/gp78 and/or RNF139 (PubMed:12535518, PubMed:16168377, PubMed:22143767). Also regulates degradation of SOAT2/ACAT2 when the lipid levels are low: initiates the ubiquitin-mediated degradation of SOAT2/ACAT2 via recruitment of the ubiquitin ligases AMFR/gp78 (PubMed:28604676).", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503#function" }, { "database": "PubMed", "id": "16168377", "url": "https://glygen.org/publication/PubMed/16168377" }, { "database": "PubMed", "id": "16606821", "url": "https://glygen.org/publication/PubMed/16606821" }, { "database": "PubMed", "id": "16399501", "url": "https://glygen.org/publication/PubMed/16399501" }, { "database": "PubMed", "id": "15899885", "url": "https://glygen.org/publication/PubMed/15899885" }, { "database": "PubMed", "id": "12535518", "url": "https://glygen.org/publication/PubMed/12535518" }, { "database": "PubMed", "id": "22143767", "url": "https://glygen.org/publication/PubMed/22143767" }, { "database": "PubMed", "id": "32322062", "url": "https://glygen.org/publication/PubMed/32322062" }, { "database": "PubMed", "id": "12202038", "url": "https://glygen.org/publication/PubMed/12202038" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "annotation": "Suppression of insulin-induced gene 1 (INSIG1) function promotes hepatic lipid remodelling and restrains NASH progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, { "database": "PubMed", "id": "33722690", "url": "https://glygen.org/publication/PubMed/33722690" } ] }, { "annotation": "The Propensity of the Human Liver to Form Large Lipid Droplets Is Associated with PNPLA3 Polymorphism, Reduced INSIG1 and NPC1L1 Expression and Increased Fibrogenetic Capacity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" }, { "database": "PubMed", "id": "34198853", "url": "https://glygen.org/publication/PubMed/34198853" } ] }, { "annotation": "This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 156, "end_pos": 156, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination and degradation.", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "PubMed", "id": "16399501", "url": "https://glygen.org/publication/PubMed/16399501" } ] }, { "start_pos": 158, "end_pos": 158, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination and degradation.", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "PubMed", "id": "16399501", "url": "https://glygen.org/publication/PubMed/16399501" } ] }, { "start_pos": 205, "end_pos": 205, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of ability to suppress the cleavage of SREBP2 and to accelerate the degradation of HMGCR.", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "PubMed", "id": "16606821", "url": "https://glygen.org/publication/PubMed/16606821" } ] }, { "start_pos": 207, "end_pos": 207, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished phosphorylation by PCK1, does not affect oxysterol-binding, does not affect the interaction with SCAP.", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "PubMed", "id": "32322062", "url": "https://glygen.org/publication/PubMed/32322062" } ] }, { "start_pos": 207, "end_pos": 207, "sequence_org": "S", "sequence_mut": "E", "comment": "Phosphomimetic mutant, reduced binding to oxysterol.", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "PubMed", "id": "32322062", "url": "https://glygen.org/publication/PubMed/32322062" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186480" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15503", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15503" } ], "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", 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"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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"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, 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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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15503", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15503" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15503", "url": 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15503", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15503" } ], "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 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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": "O15503", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15503" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15503" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"url": "https://www.uniprot.org/uniprot/H7C5L3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5L3-1", "url": "https://www.uniprot.org/uniprot/H7C5L3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15503-1", "url": "https://www.uniprot.org/uniprot/O15503-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15503-2", "url": "https://www.uniprot.org/uniprot/O15503-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPRLHDHFWSCSCAHSARRRGPPRASAAGLAAKVGEMINVSVSGPSLLAAHGAPDADPAPRGRSAAMSGPEPGSPYPNTWHHRLLQRSLVLFSVGVVLALVLNLLQIQRNVTLFPEEVIATIFSSAWWVPPCCGTAAAVVGLLYPCIDSHLGEPHKFKREWASVMRCIAVFVGINHASAKLDFANNVQLSLTLAALSLGLWWTFDRSRSGLGLGITIAFLATLITQFLVYNGVYQYTSPDFLYIRSWLPCIFFSGGVTVGNIGRQLAMGVPEKPHSD", "length": 277, "header": "sp|O15503-1|INSI1_HUMAN Isoform 1 of Insulin-induced gene 1 protein OS=Homo sapiens OX=9606 GN=INSIG1 PE=1 SV=3 CANONICAL=O15503-1" }, "isoforms": [ { "isoform_ac": "C9JSG8-1", "url": "", "sequence": { "sequence": "MPRLHDHFWSCSCAHSARRRGPPRASAAGLAAKVGEMINVSVSGPSLLAAHGAPDADPAPRGRSAAMSGPEPGSPYPNTWHHRLLQRSLVLFSVGVVLALVLNLLQIQRNVTLFPEEVIATIF", "length": 123, "header": "tr|C9JSG8-1|C9JSG8_HUMAN Computationally mapped isoform of Insulin-induced gene 1 protein OS=Homo sapiens OX=9606 GN=INSIG1 PE=1 SV=1 CANONICAL=O15503-1" }, "locus": { "chromosome": "7", "start_pos": 155298654, "end_pos": 155298286, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425172.1", "url": "https://www.ensembl.org/id/ENST00000425172.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414691.1", "url": "https://www.ensembl.org/id/ENSP00000414691.1" } ] } }, { "isoform_ac": "F5H6P3-1", "url": "", "sequence": { "sequence": "MPRLHDHFWSCSCAHSARRRGPPRASAKLDFANNVQLSLTLAALSLGLWWTFDRSRSGLGLGITIAFLATLITQFLVYNGVYQYTSPDFLYIRSWLPCIFFSGGVTVGNIGRQLAMLIPFCEELNLKTTWLFHKTRSNYRVFLKSPIVIESSKPPILRARKILEENLTVDYDKDYLFS", "length": 178, "header": "tr|F5H6P3-1|F5H6P3_HUMAN Computationally mapped isoform of Insulin-induced gene protein OS=Homo sapiens OX=9606 GN=INSIG1 PE=1 SV=1 CANONICAL=O15503-1" }, "locus": { "chromosome": "7", "start_pos": 155308355, "end_pos": 155298286, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344756.8", "url": "https://www.ensembl.org/id/ENST00000344756.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000340010.4", "url": "https://www.ensembl.org/id/ENSP00000340010.4" } ] } }, { "isoform_ac": "H7C5L3-1", "url": "", "sequence": { "sequence": "XSVGVVLALVLNLLQIQRNVTLFPEEVIATIFSSAWWVPPCCGTAAAVVGLLYPCIDSHLGEPHKFKREWASVMRCIAVFVGINHASAKLDFANNVQLSLTLAALSLGLWWTFDRSRSGLGLGITIAFLATLITQFLVYNGVYQYTSPDFLYIRSWLPCIFFSGGVTVGNIGRQLAMLIPFCEELNLKTTWLFHKTRSNYRVFLKSPIVIESSKPPILRARKILEENLTVDYDKDYLFS", "length": 239, "header": "tr|H7C5L3-1|H7C5L3_HUMAN Computationally mapped isoform of Insulin-induced gene protein OS=Homo sapiens OX=9606 GN=INSIG1 PE=1 SV=1 CANONICAL=O15503-1" }, "locus": { "chromosome": "7", "start_pos": 155308357, "end_pos": 155298561, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476756.1", "url": "https://www.ensembl.org/id/ENST00000476756.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420198.1", "url": "https://www.ensembl.org/id/ENSP00000420198.1" } ] } }, { "isoform_ac": "O15503-1", "url": "", "sequence": { "sequence": "MPRLHDHFWSCSCAHSARRRGPPRASAAGLAAKVGEMINVSVSGPSLLAAHGAPDADPAPRGRSAAMSGPEPGSPYPNTWHHRLLQRSLVLFSVGVVLALVLNLLQIQRNVTLFPEEVIATIFSSAWWVPPCCGTAAAVVGLLYPCIDSHLGEPHKFKREWASVMRCIAVFVGINHASAKLDFANNVQLSLTLAALSLGLWWTFDRSRSGLGLGITIAFLATLITQFLVYNGVYQYTSPDFLYIRSWLPCIFFSGGVTVGNIGRQLAMGVPEKPHSD", "length": 277, "header": "sp|O15503-1|INSI1_HUMAN Isoform 1 of Insulin-induced gene 1 protein OS=Homo sapiens OX=9606 GN=INSIG1 PE=1 SV=3 CANONICAL=O15503-1" }, "locus": { "chromosome": "7", "start_pos": 155308267, "end_pos": 155298286, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340368.9", "url": "https://www.ensembl.org/id/ENST00000340368.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000344741.4", "url": "https://www.ensembl.org/id/ENSP00000344741.4" } ] } }, { "isoform_ac": "O15503-2", "url": "", "sequence": { "sequence": "MPRLHDHFWSCSCAHSARRRGPPRASAAGLAAKVGEMINVSVSGPSLLAAHGAPDADPAPRGRSAAMSGPEPGSPYPNTWHHRLLQRSLVLFSVGVVLALVLNLLQIQRNVTLFPEEVIATIFSSAWWVPPCCGTAAGIHPQISSIFVLGSLVYFSQEASRWGT", "length": 164, "header": "sp|O15503-2|INSI1_HUMAN Isoform 2 of Insulin-induced gene 1 protein OS=Homo sapiens OX=9606 GN=INSIG1 PE=1 SV=3 CANONICAL=O15503-1" }, "locus": { "chromosome": "7", "start_pos": 155302826, "end_pos": 155298286, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000342407.5", "url": "https://www.ensembl.org/id/ENST00000342407.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000344035.5", "url": "https://www.ensembl.org/id/ENSP00000344035.5" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PCK1", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "iPTMnet", "id": "O15503", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15503" }, { "database": "PubMed", "id": "32322062", "url": "https://glygen.org/publication/PubMed/32322062" } ], "site_lbl": "Ser207" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Nuclear import of sterol regulatory element-binding protein-2, a basic helix-loop-helix-leucine zipper (bHLH-Zip)-containing transcription factor, occurs through the direct interaction of importin beta with HLH-Zip.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Nagoshi E, Imamoto N, Sato R, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10397761", "url": "https://glygen.org/publication/PubMed/10397761" } ] }, { "title": "Autocatalytic processing of site-1 protease removes propeptide and permits cleavage of sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Espenshade PJ, Cheng D, Goldstein JL, Brown MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10428864", "url": "https://glygen.org/publication/PubMed/10428864" } ] }, { "title": "Biosynthesis and enzymatic characterization of human SKI-1/S1P and the processing of its inhibitory prosegment.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Toure BB, Munzer JS, Basak A, Benjannet S, Rochemont J, Lazure C, Chretien M, Seidah NG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10644685", "url": "https://glygen.org/publication/PubMed/10644685" } ] }, { "title": "Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Ye J, Dave UP, Grishin NV, Goldstein JL, Brown MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "10805775", "url": "https://glygen.org/publication/PubMed/10805775" } ] }, { "title": "Dimerization of sterol regulatory element-binding protein 2 via the helix-loop-helix-leucine zipper domain is a prerequisite for its nuclear localization mediated by importin beta.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Nagoshi E, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "11283257", "url": "https://glygen.org/publication/PubMed/11283257" } ] }, { "title": "Reduced expression of the insulin-induced protein 1 and p41 Arp2/3 complex genes in human gastric cancers.", "journal": "International journal of cancer", "date": "2002", "authors": "Kaneda A, Kaminishi M, Nakanishi Y, Sugimura T, Ushijima T", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ], "reference": [ { "type": "PubMed", "id": "12115587", "url": "https://glygen.org/publication/PubMed/12115587" } ] }, { "title": "Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER.", "journal": "Cell", "date": "2002", "authors": "Yang T, Espenshade PJ, Wright ME, Yabe D, Gong Y, Aebersold R, Goldstein JL, Brown MS", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "12202038", "url": "https://glygen.org/publication/PubMed/12202038" } ] }, { "title": "The hypocholesterolemic agent LY295427 up-regulates INSIG-1, identifying the INSIG-1 protein as a mediator of cholesterol homeostasis through SREBP.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Janowski BA", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ], "reference": [ { "type": "PubMed", "id": "12242342", "url": "https://glygen.org/publication/PubMed/12242342" } ] }, { "title": "Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.", "journal": "Molecular cell", "date": "2003", "authors": "Sever N, Yang T, Brown MS, Goldstein JL, DeBose-Boyd RA", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "12535518", "url": "https://glygen.org/publication/PubMed/12535518" } ] }, { "title": "The structure of importin-beta bound to SREBP-2: nuclear import of a transcription factor.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Lee SJ, Sekimoto T, Yamashita E, Nagoshi E, Nakagawa A, Imamoto N, Yoshimura M, Sakai H, Chong KT, Tsukihara T, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "14645851", "url": "https://glygen.org/publication/PubMed/14645851" } ] }, { "title": "Membrane topology of human insig-1, a protein regulator of lipid synthesis.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Feramisco Jamison D, Goldstein Joseph L, Brown Michael S", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "14660594", "url": "https://glygen.org/publication/PubMed/14660594" } ] }, { "title": "Activation domains from both monomers contribute to transcriptional stimulation by sterol regulatory element-binding protein dimers.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Datta S, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "15550381", "url": "https://glygen.org/publication/PubMed/15550381" } ] }, { "title": "Insig required for sterol-mediated inhibition of Scap/SREBP binding to COPII proteins in vitro.", "journal": "The Journal of biological chemistry", "date": "2005-07-15", "authors": "Sun Li-Ping, Li Lu, Goldstein Joseph L, Brown Michael S", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "15899885", "url": "https://glygen.org/publication/PubMed/15899885" } ] }, { "title": "Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples sterol-regulated ubiquitination to degradation of HMG CoA reductase.", "journal": "Molecular cell", "date": "2005", "authors": "Song BL, Sever N, DeBose-Boyd RA", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "16168377", "url": "https://glygen.org/publication/PubMed/16168377" } ] }, { "title": "Sterol-regulated ubiquitination and degradation of Insig-1 creates a convergent mechanism for feedback control of cholesterol synthesis and uptake.", "journal": "Cell metabolism", "date": "2006", "authors": "Gong Y, Lee JN, Lee PC, Goldstein JL, Brown MS, Ye J", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "16399501", "url": "https://glygen.org/publication/PubMed/16399501" } ] }, { "title": "Juxtamembranous aspartic acid in Insig-1 and Insig-2 is required for cholesterol homeostasis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Gong Y, Lee JN, Brown MS, Goldstein JL, Ye J", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "16606821", "url": "https://glygen.org/publication/PubMed/16606821" } ] }, { "title": "Sterol-regulated degradation of Insig-1 mediated by the membrane-bound ubiquitin ligase gp78.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Lee JN, Song B, DeBose-Boyd RA, Ye J", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "17043353", "url": "https://glygen.org/publication/PubMed/17043353" } ] }, { "title": "Genistein downregulates SREBP-1 regulated gene expression by inhibiting site-1 protease expression in HepG2 cells.", "journal": "The Journal of nutrition", "date": "2007", "authors": "Shin ES, Lee HH, Cho SY, Park HW, Lee SJ, Lee TR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "17449569", "url": "https://glygen.org/publication/PubMed/17449569" } ] }, { "title": "The TRC8 ubiquitin ligase is sterol regulated and interacts with lipid and protein biosynthetic pathways.", "journal": "Molecular cancer research : MCR", "date": "2010", "authors": "Lee JP, Brauweiler A, Rudolph M, Hooper JE, Drabkin HA, Gemmill RM", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "20068067", "url": "https://glygen.org/publication/PubMed/20068067" } ] }, { "title": "Sterol-induced degradation of HMG CoA reductase depends on interplay of two Insigs and two ubiquitin ligases, gp78 and Trc8.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Jo Y, Lee PC, Sguigna PV, DeBose-Boyd RA", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "22143767", "url": "https://glygen.org/publication/PubMed/22143767" } ] }, { "title": "Rules for the recognition of dilysine retrieval motifs by coatomer.", "journal": "EMBO J.", "date": "2013", "authors": "Ma Wenfu, Goldberg Jonathan", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "23481256", "url": "https://glygen.org/publication/PubMed/23481256" } ] }, { "title": "Cholesterol and fatty acids regulate cysteine ubiquitylation of ACAT2 through competitive oxidation.", "journal": "Nature cell biology", "date": "2017", "authors": "Wang YJ, Bian Y, Luo J, Lu M, Xiong Y, Guo SY, Yin HY, Lin X, Li Q, Chang CCY, Chang TY, Li BL, Song BL", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "title": "SREBP-regulated lipid metabolism: convergent physiology - divergent pathophysiology.", "journal": "Nat. Rev. Endocrinol.", "date": "2017", "authors": "Shimano Hitoshi, Sato Ryuichiro", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "28849786", "url": "https://glygen.org/publication/PubMed/28849786" } ] }, { "title": "Corrigendum: Cholesterol and fatty acids regulate cysteine ubiquitylation of ACAT2 through competitive oxidation.", "journal": "Nat. Cell Biol.", "date": "2017", "authors": "Wang Yong-Jian, Bian Yan, Luo Jie, Lu Ming, Xiong Ying, Guo Shu-Yuan, Yong Hui, Lin Xu, Li Qin, Chang Catherine C Y, Chang Ta-Yuan, Li Bo-Liang, Song Bao-Liang", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "29184177", "url": "https://glygen.org/publication/PubMed/29184177" } ] }, { "title": "Ring finger protein 145 (RNF145) is a ubiquitin ligase for sterol-induced degradation of HMG-CoA reductase.", "journal": "J. Biol. Chem.", "date": "2018", "authors": "Jiang LY, Jiang W, Tian N, Xiong YN, Liu J, Wei J, Wu KY, Luo J, Shi XJ, Song BL", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "reference": [ { "type": "PubMed", "id": "29374057", "url": "https://glygen.org/publication/PubMed/29374057" } ] }, { "title": "Mutant huntingtin interacts with the sterol regulatory element-binding proteins and impairs their nuclear import.", "journal": "Human molecular genetics", "date": "2020", "authors": "Di Pardo A, Monyror J, Morales LC, Kadam V, Lingrell S, Maglione V, Wozniak RW, Sipione S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "31875875", "url": "https://glygen.org/publication/PubMed/31875875" } ] }, { "title": "The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis.", "journal": "Nature", "date": "2020", "authors": "Xu D, Wang Z, Xia Y, Shao F, Xia W, Wei Y, Li X, Qian X, Lee JH, Du L, Zheng Y, Lv G, Leu JS, Wang H, Xing D, Liang T, Hung MC, Lu Z", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" }, { "database": "iPTMnet", "id": "O15503", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15503" } ], "reference": [ { "type": "PubMed", "id": "32322062", "url": "https://glygen.org/publication/PubMed/32322062" } ] }, { "title": "Suppression of insulin-induced gene 1 (INSIG1) function promotes hepatic lipid remodelling and restrains NASH progression.", "journal": "Molecular metabolism", "date": "2021", "authors": "Azzu V, Vacca M, Kamzolas I, Hall Z, Leslie J, Carobbio S, Virtue S, Davies SE, Lukasik A, Dale M, Bohlooly-Y M, Acharjee A, Linden D, Bidault G, Petsalaki E, Griffin JL, Oakley F, Allison MED, Vidal-Puig A", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ], "reference": [ { "type": "PubMed", "id": "33722690", "url": "https://glygen.org/publication/PubMed/33722690" } ] }, { "title": "The Propensity of the Human Liver to Form Large Lipid Droplets Is Associated with PNPLA3 Polymorphism, Reduced INSIG1 and NPC1L1 Expression and Increased Fibrogenetic Capacity.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Ferri F, Carotti S, Carpino G, Mischitelli M, Cantafora A, Molinaro A, Argenziano ME, Parisse S, Corsi A, Riminucci M, Lai Q, Mennini G, Spadetta G, Pugliese F, Rossi M, Morini S, Gaudio E, Ginanni Corradini S", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ], "reference": [ { "type": "PubMed", "id": "34198853", "url": "https://glygen.org/publication/PubMed/34198853" } ] }, { "title": "Insulin-induced genes INSIG1 and INSIG2 mediate oxysterol-dependent activation of the PERK-eIF2alpha-ATF4 axis.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Watanabe Y, Sasaki T, Miyoshi S, Shimizu M, Yamauchi Y, Sato R", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ], "reference": [ { "type": "PubMed", "id": "34298014", "url": "https://glygen.org/publication/PubMed/34298014" } ] }, { "title": "A novel protein encoded by circINSIG1 reprograms cholesterol metabolism by promoting the ubiquitin-dependent degradation of INSIG1 in colorectal cancer.", "journal": "Molecular cancer", "date": "2023-04-22", "authors": "Xiong Li, Liu Hua-Shan, Zhou Chi, Yang Xin, Huang Liang, Jie Hai-Qing, Zeng Zi-Wei, Zheng Xiao-Bin, Li Wen-Xin, Liu Zhan-Zhen, Kang Liang, Liang Zhen-Xing", "evidence": [ { "database": "RefSeq", "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519" } ], "reference": [ { "type": "PubMed", "id": "37087475", "url": "https://glygen.org/publication/PubMed/37087475" } ] }, { "title": "SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis.", "journal": "Cell", "date": "1994", "authors": "Wang X, Sato R, Brown MS, Hua X, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "8156598", "url": "https://glygen.org/publication/PubMed/8156598" } ] }, { "title": "Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment.", "journal": "Cell", "date": "1996", "authors": "Sakai J, Duncan EA, Rawson RB, Hua X, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "8674110", "url": "https://glygen.org/publication/PubMed/8674110" } ] }, { 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intramembrane cleavage of SREBPs.", "journal": "Molecular cell", "date": "1997", "authors": "Rawson RB, Zelenski NG, Nijhawan D, Ye J, Sakai J, Hasan MT, Chang TY, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829" } ], "reference": [ { "type": "PubMed", "id": "9659902", "url": "https://glygen.org/publication/PubMed/9659902" } ] } ], "pathway": [ { "id": "hsa:3638", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3638", "resource": "KEGG Pathway" }, { "id": "R-HSA-1655829", "name": "Regulation of cholesterol biosynthesis by SREBP (SREBF)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655829", "resource": "Reactome", "description": "Regulation of cholesterol biosynthesis by SREBP (SREBF)" } ], "orthologs": [ { "uniprot_canonical_ac": "Q08755-1", "protein_name": "Insulin-induced gene 1 protein", "gene_name": "Insig1", "tax_id": 10116, "organism": 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"id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "cellular response to sterol", "id": "GO:0036315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036315", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "negative regulation of steroid biosynthetic process", "id": "GO:0010894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010894", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "cranial suture morphogenesis", "id": "GO:0060363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060363", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "SREBP signaling pathway", "id": "GO:0032933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032933", "evidence": [ { "database": "UniProtKB", "id": "O15503", 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"GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "SREBP-SCAP-Insig complex", "id": "GO:0032937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032937", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "oxysterol binding", "id": "GO:0008142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008142", "evidence": [ { "database": "UniProtKB", "id": "O15503", "url": "https://www.uniprot.org/uniprot/O15503" } ], "pmid": "" }, { "name": "protein sequestering 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