{ "uniprot_canonical_ac": "O15121-1", "uniprot_ac": "O15121", "uniprot_id": "DEGS1_HUMAN", "mass": { "chemical_mass": 37866.0, "monoisotopic_mass": 37866.0 }, "refseq": { "ac": "NP_003667", "name": "sphingolipid delta(4)-desaturase DES1 isoform 1", "summary": "This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, "gene_names": [ { "name": "DEGS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15121", "id": "O15121" }, { "name": "DEGS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667", "id": "NP_003667" }, { "name": "DEGS; DEGS-1; Des-1; DES1; FADS7; HLD18; MIG15; MLD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667", "id": "NP_003667" }, { "name": "DES1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15121", "id": "O15121" }, { "name": "MIG15", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15121", "id": "O15121" }, { "name": "MLD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15121", "id": "O15121" } ], "protein_names": [ { "name": "Sphingolipid delta(4)-desaturase DES1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15121" }, { "name": "1.14.19.17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "5.2.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "Cell migration-inducing gene 15 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "Degenerative spermatocyte homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "Dihydroceramide desaturase-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "Membrane lipid desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "Retinol isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15121" }, { "name": "membrane fatty acid (lipid) desaturase; sphingolipid delta 4 desaturase; migration-inducing gene 15 protein; membrane lipid desaturase; cell migration-inducing gene 15 protein; degenerative spermatocyte homolog 1, lipid desaturase; sphingolipid delta(4)-desaturase 1; dihydroceramide desaturase 1; degenerative spermatocyte homolog, lipid desaturase; retinol isomerase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667", "id": "NP_003667" }, { "name": "sphingolipid delta(4)-desaturase DES1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667", "id": "NP_003667" } ], "function": [ { "annotation": "A role of the sphingolipid pathway, dihydroceramides desaturase in particular, in confluence-induced growth arrest in neuroblastoma cells", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "22377532", "url": "https://glygen.org/publication/PubMed/22377532" } ] }, { "annotation": "Dihydroceramide Delta4-Desaturase 1 Is Not Involved in SARS-CoV-2 Infection.", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "36184516", "url": "https://glygen.org/publication/PubMed/36184516" } ] }, { "annotation": "Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "36165222", "url": "https://glygen.org/publication/PubMed/36165222" } ] }, { "annotation": "Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121#function" }, { "database": "UniProtKB", "id": "Q5F3C1", "url": "https://www.uniprot.org/uniprot/Q5F3C1#function" }, { "database": "PubMed", "id": "30620338", "url": "https://glygen.org/publication/PubMed/30620338" }, { "database": "PubMed", "id": "30620337", "url": "https://glygen.org/publication/PubMed/30620337" }, { "database": "PubMed", "id": "11937514", "url": "https://glygen.org/publication/PubMed/11937514" } ] }, { "annotation": "Identification of sphingolipid delta 4-desaturase family", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "11937514", "url": "https://glygen.org/publication/PubMed/11937514" } ] }, { "annotation": "Overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia Erratum:[J Biol Chem. 2012 May 18;287(21):17425]", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "21914808", "url": "https://glygen.org/publication/PubMed/21914808" } ] }, { "annotation": "Oxidative stress leads to potent inhibition of dihydroceramide desaturase resulting in significant elevation in dihydroceramide levels in vivo Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "20105137", "url": "https://glygen.org/publication/PubMed/20105137" } ] }, { "annotation": "Partial loss of DEGS-1 inhibited cell growth, with cell cycle arrest at G(0)/G(1). This was accompanied by a significant decrease in the amount of phosphorylated retinoblastoma protein", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "17283068", "url": "https://glygen.org/publication/PubMed/17283068" } ] }, { "annotation": "Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "36951944", "url": "https://glygen.org/publication/PubMed/36951944" } ] }, { "annotation": "The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" }, { "database": "PubMed", "id": "37890668", "url": "https://glygen.org/publication/PubMed/37890668" } ] }, { "annotation": "This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ] } ], "disease": [ { "disease_id": "DOID:0070399", "recommended_name": { "id": "DOID:0070399", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070399", "name": "hypomyelinating leukodystrophy 18", "description": "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42." }, "synonyms": [ { "id": "DOID:0070399", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070399", "name": "HLD18", "description": "" }, { "id": "MONDO:0032730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032730", "name": "leukodystrophy, hypomyelinating, 18", "description": "" }, { "id": "MONDO:0032730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032730", "name": "HLD18", "description": "" }, { "id": "MONDO:0032730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032730", "name": "LEUKODYSTROPHY, HYPOMYELINATING, 18", "description": "" }, { "id": "MIM:618404", "resource": "MIM", "url": "https://www.omim.org/entry/618404", "name": "Leukodystrophy, hypomyelinating, 18", "description": "Leukodystrophy, hypomyelinating, 18" } ], "evidence": [ { "id": "618404", "database": "MIM", "url": "https://www.omim.org/entry/618404" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O15121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15121" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "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": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "common_name": "Human" } ], "gene": [ { "name": "DEGS1", "url": "https://www.uniprot.org/uniprot/O15121", "locus": { "chromosome": "1", "start_pos": 224193441, "end_pos": 224175756, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000143753", "url": "https://www.ensembl.org/id/ENSG00000143753" } ] } } ], "crossref": [ { "id": "ENSG00000143753", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143753", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "1.14.19.17", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.19.17&UniProtAcc=O15121", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd03508", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03508", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2021749", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2021749", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "DEGS1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEGS1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8560", "url": "https://www.ncbi.nlm.nih.gov/gene/8560", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "13709", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13709", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15121", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15121*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005804", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005804", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013866", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013866", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8560", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8560", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "615843", "url": "http://www.omim.org/entry/615843", "database": "MIM", "categories": [ "Other" ] }, { "id": "618404", "url": "http://www.omim.org/entry/618404", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15121", "url": "https://www.nextprot.org/entry/NX_O15121", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15121", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15121", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IWIITMM", "url": "https://omabrowser.org/oma/group/IWIITMM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5485164at2759", "url": "http://www.orthodb.org/?query=5485164at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12879", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12879", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12879:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12879:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00487", "url": "http://pfam.xfam.org/family/PF00487", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08557", "url": "http://pfam.xfam.org/family/PF08557", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15121", "url": "https://pharos.nih.gov/targets/O15121", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15121", "url": "http://purl.obolibrary.org/obo/PR_O15121", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19141", "url": "https://www.rhea-db.org/rhea/19141", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "46544", "url": "https://www.rhea-db.org/rhea/46544", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55348", "url": "https://www.rhea-db.org/rhea/55348", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55352", "url": "https://www.rhea-db.org/rhea/55352", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55356", "url": "https://www.rhea-db.org/rhea/55356", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55360", "url": "https://www.rhea-db.org/rhea/55360", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E7EMA0", "url": "https://www.uniprot.org/uniprot/E7EMA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EMA0-1", "url": "https://www.uniprot.org/uniprot/E7EMA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15121-1", "url": "https://www.uniprot.org/uniprot/O15121-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE", "length": 323, "header": "sp|O15121-1|DEGS1_HUMAN Isoform 1 of Sphingolipid delta(4)-desaturase DES1 OS=Homo sapiens OX=9606 GN=DEGS1 PE=1 SV=1 CANONICAL=O15121-1" }, "isoforms": [ { "isoform_ac": "E7EMA0-1", "url": "", "sequence": { "sequence": "MVSPQLAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAE", "length": 261, "header": "tr|E7EMA0-1|DEGS1_HUMAN Computationally mapped isoform of Sphingolipid delta(4)-desaturase DES1 OS=Homo sapiens OX=9606 GN=DEGS1 PE=1 SV=1 CANONICAL=O15121-1" }, "locus": { "chromosome": "1", "start_pos": 224192352, "end_pos": 224175929, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415210.5", "url": "https://www.ensembl.org/id/ENST00000415210.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400545.1", "url": "https://www.ensembl.org/id/ENSP00000400545.1" } ] } }, { "isoform_ac": "O15121-1", "url": "", "sequence": { "sequence": "MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE", "length": 323, "header": "sp|O15121-1|DEGS1_HUMAN Isoform 1 of Sphingolipid delta(4)-desaturase DES1 OS=Homo sapiens OX=9606 GN=DEGS1 PE=1 SV=1 CANONICAL=O15121-1" }, "locus": { "chromosome": "1", "start_pos": 224192475, "end_pos": 224183337, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323699.9", "url": "https://www.ensembl.org/id/ENST00000323699.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000316476.4", "url": "https://www.ensembl.org/id/ENSP00000316476.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15121", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15121" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 307, "end_pos": 307, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O15121", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15121" } ], "site_lbl": "Ser307" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hanada K, Hara T, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10722674", "url": "https://glygen.org/publication/PubMed/10722674" } ] }, { "title": "Molecular cloning and functional characterization of a novel mammalian sphingosine kinase type 2 isoform.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Liu H, Sugiura M, Nava VE, Edsall LC, Kono K, Poulton S, Milstien S, Kohama T, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10751414", "url": "https://glygen.org/publication/PubMed/10751414" } ] }, { "title": "Functional characterization of human sphingosine kinase-1.", "journal": "FEBS letters", "date": "2000", "authors": "Nava VE, Lacana E, Poulton S, Liu H, Sugiura M, Kono K, Milstien S, Kohama T, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10802064", "url": "https://glygen.org/publication/PubMed/10802064" } ] }, { "title": "Human sphingosine kinase: purification, molecular cloning and characterization of the native and recombinant enzymes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Pitson SM, D'andrea RJ, Vandeleur L, Moretti PA, Xia P, Gamble JR, Vadas MA, Wattenberg BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10947957", "url": "https://glygen.org/publication/PubMed/10947957" } ] }, { "title": "Identification and characterization of a sphingolipid delta 4-desaturase family.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ternes P, Franke S, Zahringer U, Sperling P, Heinz E", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" }, { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" }, { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "11937514", "url": "https://glygen.org/publication/PubMed/11937514" } ] }, { "title": "Molecular machinery for non-vesicular trafficking of ceramide.", "journal": "Nature", "date": "2003", "authors": "Hanada K, Kumagai K, Yasuda S, Miura Y, Kawano M, Fukasawa M, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685229", "url": "https://glygen.org/publication/PubMed/14685229" } ] }, { "title": "Identification of a family of animal sphingomyelin synthases.", "journal": "The EMBO journal", "date": "2004", "authors": "Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685263", "url": "https://glygen.org/publication/PubMed/14685263" } ] }, { "title": "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yamaoka S, Miyaji M, Kitano T, Umehara H, Okazaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14976195", "url": "https://glygen.org/publication/PubMed/14976195" } ] }, { "title": "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.", "journal": "FEBS letters", "date": "2004", "authors": "Mizutani Y, Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15063729", "url": "https://glygen.org/publication/PubMed/15063729" } ] }, { "title": "FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15328338", "url": "https://glygen.org/publication/PubMed/15328338" } ] }, { "title": "The human FA2H gene encodes a fatty acid 2-hydroxylase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15337768", "url": "https://glygen.org/publication/PubMed/15337768" } ] }, { "title": "LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lahiri S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16100120", "url": "https://glygen.org/publication/PubMed/16100120" } ] }, { "title": "SphK1 and SphK2, sphingosine kinase isoenzymes with opposing functions in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Maceyka M, Sankala H, Hait NC, Le Stunff H, Liu H, Toman R, Collier C, Zhang M, Satin LS, Merrill AH Jr, Milstien S, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16118219", "url": "https://glygen.org/publication/PubMed/16118219" } ] }, { "title": "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Perry RJ, Ridgway ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16571669", "url": "https://glygen.org/publication/PubMed/16571669" } ] }, { "title": "When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Pewzner-Jung Y, Ben-Dor S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16793762", "url": "https://glygen.org/publication/PubMed/16793762" } ] }, { "title": "Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kawano M, Kumagai K, Nishijima M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16895911", "url": "https://glygen.org/publication/PubMed/16895911" } ] }, { "title": "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hornemann T, Richard S, Rutti MF, Wei Y, von Eckardstein A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17023427", "url": "https://glygen.org/publication/PubMed/17023427" } ] }, { "title": "Role of ABCC1 in export of sphingosine-1-phosphate from mast cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006-10-31", "authors": "Mitra Poulami, Oskeritzian Carole A, Payne Shawn G, Beaven Michael A, Milstien Sheldon, Spiegel Sarah", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17050692", "url": "https://glygen.org/publication/PubMed/17050692" } ] }, { "title": "Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Kraveka JM, Li L, Szulc ZM, Bielawski J, Ogretmen B, Hannun YA, Obeid LM, Bielawska A", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "17283068", "url": "https://glygen.org/publication/PubMed/17283068" } ] }, { "title": "Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?", "journal": "The Biochemical journal", "date": "2007", "authors": "Hornemann T, Wei Y, von Eckardstein A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17331073", "url": "https://glygen.org/publication/PubMed/17331073" } ] }, { "title": "Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Uchida Y, Hama H, Alderson NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM, Holleran WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17355976", "url": "https://glygen.org/publication/PubMed/17355976" } ] }, { "title": "Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Tafesse FG, Huitema K, Hermansson M, van der Poel S, van den Dikkenberg J, Uphoff A, Somerharju P, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17449912", "url": "https://glygen.org/publication/PubMed/17449912" } ] }, { "title": "Regulation of secretory transport by protein kinase D-mediated phosphorylation of the ceramide transfer protein.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Fugmann T, Hausser A, Schoffler P, Schmid S, Pfizenmaier K, Olayioye MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17591919", "url": "https://glygen.org/publication/PubMed/17591919" } ] }, { "title": "SMS overexpression and knockdown: impact on cellular sphingomyelin and diacylglycerol metabolism, and cell apoptosis.", "journal": "Journal of lipid research", "date": "2008", "authors": "Ding T, Li Z, Hailemariam T, Mukherjee S, Maxfield FR, Wu MP, Jiang XC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17982138", "url": "https://glygen.org/publication/PubMed/17982138" } ] }, { "title": "Protein phosphatase 2Cepsilon is an endoplasmic reticulum integral membrane protein that dephosphorylates the ceramide transport protein CERT to enhance its association with organelle membranes.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Saito S, Matsui H, Kawano M, Kumagai K, Tomishige N, Hanada K, Echigo S, Tamura S, Kobayashi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "18165232", "url": "https://glygen.org/publication/PubMed/18165232" } ] }, { "title": "Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Laviad EL, Albee L, Pankova-Kholmyansky I, Epstein S, Park H, Merrill AH Jr, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "18165233", "url": "https://glygen.org/publication/PubMed/18165233" } ] }, { "title": "Structural basis for specific lipid recognition by CERT responsible for nonvesicular trafficking of ceramide.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Kudo N, Kumagai K, Tomishige N, Yamaji T, Wakatsuki S, Nishijima M, Hanada K, Kato R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "18184806", "url": "https://glygen.org/publication/PubMed/18184806" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" }, { "database": "iPTMnet", "id": "O15121", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15121" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Casein kinase I{gamma}2 down-regulates trafficking of ceramide in the synthesis of sphingomyelin.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Tomishige N, Kumagai K, Kusuda J, Nishijima M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19005213", "url": "https://glygen.org/publication/PubMed/19005213" } ] }, { "title": "Sphingomyelin synthase 2 is palmitoylated at the COOH-terminal tail, which is involved in its localization in plasma membranes.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Tani M, Kuge O", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19233134", "url": "https://glygen.org/publication/PubMed/19233134" } ] }, { "title": "Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH Jr, Harmon JM, Dunn TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19416851", "url": "https://glygen.org/publication/PubMed/19416851" } ] }, { "title": "Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Vacaru AM, Tafesse FG, Ternes P, Kondylis V, Hermansson M, Brouwers JF, Somerharju P, Rabouille C, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19506037", "url": "https://glygen.org/publication/PubMed/19506037" } ] }, { "title": "N-Myristoylation targets dihydroceramide Delta4-desaturase 1 to mitochondria: partial involvement in the apoptotic effect of myristic acid.", "journal": "Biochimie", "date": "2009", "authors": "Beauchamp E, Tekpli X, Marteil G, Lagadic-Gossmann D, Legrand P, Rioux V", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "reference": [ { "type": "PubMed", "id": "19647031", "url": "https://glygen.org/publication/PubMed/19647031" } ] }, { "title": "Pharmacology and antitumor activity of ABC294640, a selective inhibitor of sphingosine kinase-2.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2010", "authors": "French KJ, Zhuang Y, Maines LW, Gao P, Wang W, Beljanski V, Upson JJ, Green CL, Keller SN, Smith CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "20061445", "url": "https://glygen.org/publication/PubMed/20061445" } ] }, { "title": "Dihydroceramide desaturase activity is modulated by oxidative stress.", "journal": "The Biochemical journal", "date": "2010", "authors": "Idkowiak-Baldys J, Apraiz A, Li L, Rahmaniyan M, Clarke CJ, Kraveka JM, Asumendi A, Hannun YA", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "20105137", "url": "https://glygen.org/publication/PubMed/20105137" } ] }, { "title": "Estradiol induces export of sphingosine 1-phosphate from breast cancer cells via ABCC1 and ABCG2.", "journal": "The Journal of biological chemistry", "date": "2010-04-02", "authors": "Takabe Kazuaki, Kim Roger H, Allegood Jeremy C, Mitra Poulami, Ramachandran Subramaniam, Nagahashi Masayuki, Harikumar Kuzhuvelil B, Hait Nitai C, Milstien Sheldon, Spiegel Sarah", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "20110355", "url": "https://glygen.org/publication/PubMed/20110355" } ] }, { "title": "Orm family proteins mediate sphingolipid homeostasis.", "journal": "Nature", "date": "2010", "authors": "Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "20182505", "url": "https://glygen.org/publication/PubMed/20182505" } ] }, { "title": "(R)-FTY720 methyl ether is a specific sphingosine kinase 2 inhibitor: Effect on sphingosine kinase 2 expression in HEK 293 cells and actin rearrangement and survival of MCF-7 breast cancer cells.", "journal": "Cellular signalling", "date": "2011", "authors": "Lim KG, Sun C, Bittman R, Pyne NJ, Pyne S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "21620961", "url": "https://glygen.org/publication/PubMed/21620961" } ] }, { "title": "Dihydroceramide-based response to hypoxia.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Devlin CM, Lahm T, Hubbard WC, Van Demark M, Wang KC, Wu X, Bielawska A, Obeid LM, Ivan M, Petrache I", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "21914808", "url": "https://glygen.org/publication/PubMed/21914808" } ] }, { "title": "Cell density-dependent reduction of dihydroceramide desaturase activity in neuroblastoma cells.", "journal": "Journal of lipid research", "date": "2012", "authors": "Spassieva SD, Rahmaniyan M, Bielawski J, Clarke CJ, Kraveka JM, Obeid LM", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "22377532", "url": "https://glygen.org/publication/PubMed/22377532" } ] }, { "title": "Stereospecificity of fatty acid 2-hydroxylase and differential functions of 2-hydroxy fatty acid enantiomers.", "journal": "Journal of lipid research", "date": "2012-07", "authors": "Guo Lin, Zhang Xu, Zhou Dequan, Okunade Adewole L, Su Xiong", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "22517924", "url": "https://glygen.org/publication/PubMed/22517924" } ] }, { "title": "Characterization of isoenzyme-selective inhibitors of human sphingosine kinases.", "journal": "PloS one", "date": "2012", "authors": "Gao P, Peterson YK, Smith RA, Smith CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "22970244", "url": "https://glygen.org/publication/PubMed/22970244" } ] }, { "title": "Identification of DES1 as a vitamin A isomerase in Mueller glial cells of the retina.", "journal": "Nat. Chem. Biol.", "date": "2013", "authors": "Kaylor JJ, Yuan Q, Cook J, Sarfare S, Makshanoff J, Miu A, Kim A, Kim P, Habib S, Roybal CN, Xu T, Nusinowitz S, Travis GH", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "reference": [ { "type": "PubMed", "id": "23143414", "url": "https://glygen.org/publication/PubMed/23143414" } ] }, { "title": "Spns2, a transporter of phosphorylated sphingoid bases, regulates their blood and lymph levels, and the lymphatic network.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2013", "authors": "Nagahashi M, Kim EY, Yamada A, Ramachandran S, Allegood JC, Hait NC, Maceyka M, Milstien S, Takabe K, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "23180825", "url": "https://glygen.org/publication/PubMed/23180825" } ] }, { "title": "Molecular basis of sphingosine kinase 1 substrate recognition and catalysis.", "journal": "Structure (London, England : 1993)", "date": "2013", "authors": "Wang Z, Min X, Xiao SH, Johnstone S, Romanow W, Meininger D, Xu H, Liu J, Dai J, An S, Thibault S, Walker N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "23602659", "url": "https://glygen.org/publication/PubMed/23602659" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.", "journal": "PLoS genetics", "date": "2013", "authors": "Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "23754960", "url": "https://glygen.org/publication/PubMed/23754960" } ] }, { "title": "Phosphoregulation of the ceramide transport protein CERT at serine 315 in the interaction with VAMP-associated protein (VAP) for inter-organelle trafficking of ceramide in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Kumagai K, Kawano-Kawada M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "24569996", "url": "https://glygen.org/publication/PubMed/24569996" } ] }, { "title": "Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.", "journal": "Annals of neurology", "date": "2014", "authors": "Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "24782409", "url": "https://glygen.org/publication/PubMed/24782409" } ] }, { "title": "Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.", "journal": "Nat. Commun.", "date": "2014", "authors": "Thinon E, Serwa RA, Broncel M, Brannigan JA, Brassat U, Wright MH, Heal WP, Wilkinson AJ, Mann DJ, Tate EW", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "reference": [ { "type": "PubMed", "id": "25255805", "url": "https://glygen.org/publication/PubMed/25255805" } ] }, { "title": "A selective ATP-competitive sphingosine kinase inhibitor demonstrates anti-cancer properties.", "journal": "Oncotarget", "date": "2015", "authors": "Pitman MR, Powell JA, Coolen C, Moretti PA, Zebol JR, Pham DH, Finnie JW, Don AS, Ebert LM, Bonder CS, Gliddon BL, Pitson SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "25788259", "url": "https://glygen.org/publication/PubMed/25788259" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15121", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15121" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.", "journal": "American journal of human genetics", "date": "2017", "authors": "Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "28575652", "url": "https://glygen.org/publication/PubMed/28575652" } ] }, { "title": "MFSD2B is a sphingosine 1-phosphate transporter in erythroid cells.", "journal": "Scientific reports", "date": "2018", "authors": "Kobayashi N, Kawasaki-Nishi S, Otsuka M, Hisano Y, Yamaguchi A, Nishi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "29563527", "url": "https://glygen.org/publication/PubMed/29563527" } ] }, { "title": "Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.", "journal": "The Journal of clinical investigation", "date": "2019", "authors": "Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "reference": [ { "type": "PubMed", "id": "30620337", "url": "https://glygen.org/publication/PubMed/30620337" } ] }, { "title": "DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.", "journal": "The Journal of clinical investigation", "date": "2019", "authors": "Karsai G, Kraft F, Haag N, Korenke GC, Hanisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schroder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "reference": [ { "type": "PubMed", "id": "30620338", "url": "https://glygen.org/publication/PubMed/30620338" } ] }, { "title": "DEGS1 variant causes neurological disorder.", "journal": "European journal of human genetics : EJHG", "date": "2019", "authors": "Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "reference": [ { "type": "PubMed", "id": "31186544", "url": "https://glygen.org/publication/PubMed/31186544" } ] }, { "title": "Discovery of a Small Side Cavity in Sphingosine Kinase 2 that Enhances Inhibitor Potency and Selectivity.", "journal": "Journal of medicinal chemistry", "date": "2020", "authors": "Sibley CD, Morris EA, Kharel Y, Brown AM, Huang T, Bevan DR, Lynch KR, Santos WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "31895563", "url": "https://glygen.org/publication/PubMed/31895563" } ] }, { "title": "Dihydroceramide desaturase 1 (DES1) promotes anchorage-independent survival downstream of HER2-driven glucose uptake and metabolism.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2022", "authors": "Linzer RW, Guida DL, Aminov J, Snider JM, Khalife G, Buyukbayraktar AB, Alhaddad C, Resnick AE, Wang P, Pan CH, Allopenna JJ, Clarke CJ", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "36165222", "url": "https://glygen.org/publication/PubMed/36165222" } ] }, { "title": "Dihydroceramide Delta4-Desaturase 1 Is Not Involved in SARS-CoV-2 Infection.", "journal": "Biological & pharmaceutical bulletin", "date": "2022", "authors": "Hayashi Y, Matsuda K, Tanigawa K, Tanikawa T, Maeda K, Tsuchiya K", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "36184516", "url": "https://glygen.org/publication/PubMed/36184516" } ] }, { "title": "Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.", "journal": "International journal of molecular sciences", "date": "2023-03-03", "authors": "Eckhardt Matthias", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "36902339", "url": "https://glygen.org/publication/PubMed/36902339" } ] }, { "title": "Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine-ceramides.", "journal": "The Journal of biological chemistry", "date": "2023-03-10", "authors": "Ota Ai, Morita Hiroya, Naganuma Tatsuro, Miyamoto Masatoshi, Jojima Keisuke, Nojiri Koki, Matsuda Junko, Kihara Akio", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "36907437", "url": "https://glygen.org/publication/PubMed/36907437" } ] }, { "title": "Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.", "journal": "The Journal of clinical investigation", "date": "2023-03-23", "authors": "Planas-Serra Laura, Launay Nathalie, Goicoechea Leire, Heron B\u00e9n\u00e9dicte, Jou Cristina, Juli\u00e1-Palacios Natalia, Ruiz Montserrat, Fourcade St\u00e9phane, Casasnovas Carlos, De La Torre Carolina, Gelot Antoinette, Marsal Maria, Loza-Alvarez Pablo, Garc\u00eda-Cazorla \u00c0ngels, Fatemi Ali, Ferrer Isidre, Portero-Otin Manuel, Area-G\u00f3mez Estela, Pujol Aurora", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "36951944", "url": "https://glygen.org/publication/PubMed/36951944" } ] }, { "title": "Structural and functional insights into Spns2-mediated transport of sphingosine-1-phosphate.", "journal": "Cell", "date": "2023-05-17", "authors": "Chen Hongwen, Ahmed Shahbaz, Zhao Hongtu, Elghobashi-Meinhardt Nadia, Dai Yaxin, Kim Jae Hun, McDonald Jeffrey G, Li Xiaochun, Lee Chia-Hsueh", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "37224812", "url": "https://glygen.org/publication/PubMed/37224812" } ] }, { "title": "An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.", "journal": "Pharmacology & therapeutics", "date": "2023-09", "authors": "Ghaderi Shahrooz, Levkau Bodo", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "37390971", "url": "https://glygen.org/publication/PubMed/37390971" } ] }, { "title": "The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.", "journal": "Journal of lipid research", "date": "2023-12", "authors": "H\u00fclsmeier Andreas J, Toelle Sandra P, Bellstedt Peter, Wentzel Christian, Bahr Angela, Kolokotronis Konstantinos, Hornemann Thorsten", "evidence": [ { "database": "RefSeq", "id": "NP_003667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003667" } ], "reference": [ { "type": "PubMed", "id": "37890668", "url": "https://glygen.org/publication/PubMed/37890668" } ] }, { "title": "Evidence for a new biosynthetic pathway of sphingomyelin in SV 40 transformed mouse cells.", "journal": "Biochemical and biophysical research communications", "date": "1972", "authors": "Diringer H, Marggraf WD, Koch MA, Anderer FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "4339164", "url": "https://glygen.org/publication/PubMed/4339164" } ] }, { "title": "The enzymatic formation of sphingomyelin from ceramide and lecithin in mouse liver.", "journal": "The Journal of biological chemistry", "date": "1974", "authors": "Ullman MD, Radin NS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "4817756", "url": "https://glygen.org/publication/PubMed/4817756" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis.", "journal": "Biochemistry", "date": "1997", "authors": "Cadena DL, Kurten RC, Gill GN", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" }, { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "9188692", "url": "https://glygen.org/publication/PubMed/9188692" } ] }, { "title": "Characterization of ceramide synthesis. A dihydroceramide desaturase introduces the 4,5-trans-double bond of sphingosine at the level of dihydroceramide.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Michel C, van Echten-Deckert G, Rother J, Sandhoff K, Wang E, Merrill AH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "9312549", "url": "https://glygen.org/publication/PubMed/9312549" } ] }, { "title": "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis.", "journal": "European journal of biochemistry", "date": "1997", "authors": "Weiss B, Stoffel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "9363775", "url": "https://glygen.org/publication/PubMed/9363775" } ] } ], "pathway": [ { "id": "hsa:8560", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8560", "resource": "KEGG Pathway" }, { "id": "R-HSA-1660661", "name": "Sphingolipid de novo biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661", "resource": "Reactome", "description": "Sphingolipid de novo biosynthesis" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "O09005-1", "protein_name": "Sphingolipid delta(4)-desaturase DES1", "gene_name": "Degs1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGSRVSREEFEWVYTDQPHAARRKEILAKYPEIKSLMKPDHNLIWIVAMMLLVQLASFYLVKDLDWKWVIFWSYVFGSCLNHSMTLAIHEISHNFPFGHHKALWNRWFGMFANLSLGVPYSISFKRYHMDHHRYLGADKIDVDIPTDFEGWFFCTTFRKFVWVILQPLFYAFRPLFINPKPITYLEIINTVIQITFDIIIYYVFGVKSLVYMLAATLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNVPGKNLPMVRKIASEYYDDLPHYNSWIKVLYDFVTDDTISPYSRMKRPPKGNEILE", "length": 323 }, "evidence": [ { "id": "45928359", "url": "http://www.informatics.jax.org/homology/45928359", "database": "MGI" }, { "id": "O15121", "url": "https://omabrowser.org/oma/group/O15121/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q3TS87-1", "protein_name": "sphingolipid 4-desaturase", "gene_name": "Degs1l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRKLASLEDAEWVYNDRLHNDRRREILAKYPEIKSLMKPDPNLIWIITIIILIQLALLYLVKDLEWKWVIFCAYVFGGSINHSLIIASHEISHNFPFGHRKALWNRWFGIFANLPIGIPCSISFKKYHTDHHRFLGVDGVDVGVPHYLEGWFFCTAYRKLVWIAFQPLFITFRLLFINRKPISYLEIINTVVQITFDIIVYYVFGVKSLVYMLVASMLGLGLHPISGNLIGDHYMFLKDQETFSYYGPLNLLTFNVGYHNEHHDFPNIPGKDLPLVRKIAAEYYDKLPHHISWIKVLYDFVMDNTISSYSRMKKRLPKRK", "length": 320 }, "evidence": [ { "id": "45928358", "url": "http://www.informatics.jax.org/homology/45928358", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q5XIF5-1", "protein_name": "Sphingolipid delta(4)-desaturase DES1", "gene_name": "Degs1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGNRVSREEFEWVYTDQPHAARRQEILAKYPEIKSLMKPDPNLIWIVTSMLLVQLASFYLVKDLDWKWLMFWSYAFGSCLNHSMTLAIHEISHNFPFGHHKAMWNRWFGMFANLSLGVPYSISFKRYHMDHHRYLGADGIDVDIPTDFEGWFFCTTLRKLVWVILQPLFYAFRPLFINPKPITHLEVINTVIQVTFDVLVYYVFGVKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNVPGKNLPLVRKIASEYYDNLPHYNSWIRVLYDFVMDDTISPYSRMKRPPKGNEIQE", "length": 323 }, "evidence": [ { "id": "45928359", "url": "http://www.informatics.jax.org/homology/45928359", "database": "MGI" }, { "id": "O15121", "url": "https://omabrowser.org/oma/group/O15121/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "specific granule membrane", "id": "GO:0035579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035579", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "sphingolipid delta-4 desaturase activity", "id": "GO:0042284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042284", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "retinol isomerase activity", "id": "GO:0050251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050251", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" }, { "name": "myelin maintenance", "id": "GO:0043217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043217", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 81, "end_pos": 83, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.", "evidence": [ { "database": "UniProtKB", "id": "O15121", "url": "https://www.uniprot.org/uniprot/O15121" }, { "database": "PubMed", "id": "19647031", "url": "https://glygen.org/publication/PubMed/19647031" } ] } ], "interactions": [], "reactions": [ { "id": "19141", "name": "", "equation": "all-trans-retinol = 11-cis-retinol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIF5-1", "D3ZXB2-1", "O15121-1", "O09005-1" ], "evidence": [ { "id": "19141", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19141" } ] }, { "id": "46544", "name": "", "equation": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q564G3-1", "Q5XIF5-1", "D3ZXB2-1", "Q6QHC5-1", "O15121-1", "O09005-1", "Q8R2F2-1", "Q94515-1" ], "evidence": [ { "id": "46544", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46544" } ] }, { "id": "55348", "name": "", "equation": "all-trans-retinol = 9-cis-retinol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIF5-1", "D3ZXB2-1", "O15121-1", "O09005-1" ], "evidence": [ { "id": "55348", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55348" } ] }, { "id": "55352", "name": "", "equation": "all-trans-retinol = 13-cis-retinol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIF5-1", "D3ZXB2-1", "O15121-1", "O09005-1" ], "evidence": [ { "id": "55352", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55352" } ] }, { "id": "55356", "name": "", "equation": "11-cis-retinol = 13-cis-retinol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIF5-1", "D3ZXB2-1", "O15121-1", "O09005-1" ], "evidence": [ { "id": "55356", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55356" } ] }, { "id": "55360", "name": "", "equation": "11-cis-retinol = 9-cis-retinol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIF5-1", "D3ZXB2-1", "O15121-1", "O09005-1" ], "evidence": [ { "id": "55360", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55360" } ] }, { "id": "R-HSA-428259", "name": "DEGS1 dehydrogenates dihydroceramide", "equation": "", "summary": "DEGS1 (DES1, sphingolipid delta(4)-desaturase 1 / \u201cdegenerative spermatocyte homolog 1\u201d) enzyme associated with the cytosolic face of the endoplasmic reticulum catalyzes the desaturation of dihydroceramide to form ceramide (Cadena et al. 1997; Ternes et al. 2002). The stoichiometry and cofactor requirements of the reaction are inferred from those observed in studies of ceramide synthesis in vitro catalyzed by rat liver microsomes (Michel et al. 1997). Apparently, DEGS1 is part of an enzyme complex, together with non-heme cytochrome b5 carrying Fe2+, that provides the reduction equivalent, which is subsequently refreshed by NADH (Geeraert et al., 1997; reviewed by Fabrias et al., 2011). The reaction is necessary as a step in ceramide biosynthesis, dihydroceramides and their downstream products like dihydrosphingomyelins are biologically active, for example, as part of lipid rafts, and inhibition of DEGS1 is a therapeutic target in cancer treatment (reviewed by Fabrias et al., 2011; Tzou et al., 2023). Mutations in DEGS1 cause hypomyelinating leukodystrophy (HLD18, MIM:618404) (reviewed by Wong et al., 2023).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-9842380" ], "enzyme_list": [ "O15121-1" ], "evidence": [ { "id": "R-HSA-428259", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428259" } ] }, { "id": "R-HSA-6799350", "name": "Exocytosis of specific granule membrane proteins", "equation": "", "summary": "Secondary (specific) granules are peroxidase-negative and rich in antimicrobial substances (Joiner et al. 1989, Rorvig et al. 2012). They are more irregular and elongated in form than azurophil granules (Bainton et al. 1971). This may reflect volume adjustment in azurophil granules, which are known to proteolytically process a significant fraction of the proteins that are targeted to them, while little or no processing and therefore no increase in osmotic activity due to proteolysis has been observed in secondary granules (Borregaard & Cowland 1997). Secondary and tertiary granules have overlapping contents but can be discriminated by their intrinsic buoyant densities when centrifuged on gradient media (Kjeldsen et al. 1994).", "cellular_location": "plasma membrane, specific granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13393-1", "P61225-1", "O15120-1", "Q9NPA2-1", "P62834-1", "P00749-1", "O14672-1", "P78325-1", "P43353-1", "Q8TF62-1", "P98196-1", "Q9Y2Q0-1", "Q12913-1", "Q13303-1", "O15121-1", "O75907-1", "O14975-1", "Q5T4S7-1", "Q10588-1", "P04839-1", "Q68CP4-1", "P23467-1", "P30519-1", "O94804-1" ], "evidence": [ { "id": "R-HSA-6799350", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799350" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9842380", "participant_name": "(4E)-CERA [endoplasmic reticulum membrane]", "crossref": [ { "id": "195634", "database": "ChEBI", "url": "" }, { "id": "195634", "database": "ChEBI", "url": "" }, { "id": "195634", "database": "ChEBI", "url": "" }, { "id": "195634", "database": "ChEBI", "url": "" }, { "id": "195634", "database": "ChEBI", "url": "" }, { "id": "195634", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D3ZXB2", "gene_name": "RGD1564463", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "D3ZXB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZXB2" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "D3ZXB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZXB2" } ] } ] }, { "uniprot_ac": "O09005", "gene_name": "Degs1", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O09005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09005" } ] }, { "ec_number": "5.2.1.-", "activity": "", "evidence": [ { "id": "O09005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09005" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "O09005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O09005" } ] } ] }, { "uniprot_ac": "O14672", "gene_name": "ADAM10", "activity": [ { "ec_number": "3.4.24.81", "activity": "Endopeptidase of broad specificity.", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] }, { "ec_number": "3.4.24.81", "activity": "", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] } ] }, { "uniprot_ac": "O14975", "gene_name": "SLC27A2", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.-", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.7", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = AMP + diphosphate + phytanoyl-CoA.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15120", "gene_name": "AGPAT2", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] } ] }, { "uniprot_ac": "O15121", "gene_name": "DEGS1", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "5.2.1.-", "activity": "", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] } ] }, { "uniprot_ac": "O75907", "gene_name": "DGAT1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] } ] }, { "uniprot_ac": "O94804", "gene_name": "STK10", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O94804", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94804" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O94804", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94804" } ] } ] }, { "uniprot_ac": "P00749", "gene_name": "PLAU", "activity": [ { "ec_number": "3.4.21.73", "activity": "Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] } ] }, { "uniprot_ac": "P30519", "gene_name": "HMOX2", "activity": [ { "ec_number": "1.14.14.18", "activity": "heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] }, { "ec_number": "1.14.14.18", "activity": "", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] } ] }, { "uniprot_ac": "P43353", "gene_name": "ALDH3B1", "activity": [ { "ec_number": "1.2.1.5", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "benzaldehyde + H2O + NAD(+) = benzoate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "benzaldehyde + H2O + NADP(+) = benzoate + 2 H(+) + NADPH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.5", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78325" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] } ] }, { "uniprot_ac": "Q10588", "gene_name": "BST1", "activity": [ { "ec_number": "3.2.2.6", "activity": "H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide.", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] }, { "ec_number": "3.2.2.6", "activity": "", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] } ] }, { "uniprot_ac": "Q12913", "gene_name": "PTPRJ", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] } ] }, { "uniprot_ac": "Q564G3", "gene_name": "Degs2", "activity": [ { "ec_number": "1.14.18.5", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acyl-(4R)-4-hydroxysphinganine + 2 Fe(III)-[cytochrome b5] + H2O.", "evidence": [ { "id": "Q564G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q564G3" } ] }, { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q564G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q564G3" } ] }, { "ec_number": "1.14.18.5", "activity": "", "evidence": [ { "id": "Q564G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q564G3" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "Q564G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q564G3" } ] } ] }, { "uniprot_ac": "Q5T4S7", "gene_name": "UBR4", "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": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q5XIF5", "gene_name": "Degs1", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q5XIF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIF5" } ] }, { "ec_number": "5.2.1.-", "activity": "", "evidence": [ { "id": "Q5XIF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIF5" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "Q5XIF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIF5" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "acetyl-CoA + alpha-D-glucosaminyl-[heparan sulfate](n) = CoA + H(+) + N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] } ] }, { "uniprot_ac": "Q6QHC5", "gene_name": "DEGS2", "activity": [ { "ec_number": "1.14.18.5", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acyl-(4R)-4-hydroxysphinganine + 2 Fe(III)-[cytochrome b5] + H2O.", "evidence": [ { "id": "Q6QHC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHC5" } ] }, { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q6QHC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHC5" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "Q6QHC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHC5" } ] }, { "ec_number": "1.14.18.5", "activity": "", "evidence": [ { "id": "Q6QHC5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHC5" } ] } ] }, { "uniprot_ac": "Q8R2F2", "gene_name": "Degs2", "activity": [ { "ec_number": "1.14.18.5", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acyl-(4R)-4-hydroxysphinganine + 2 Fe(III)-[cytochrome b5] + H2O.", "evidence": [ { "id": "Q8R2F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2F2" } ] }, { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q8R2F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2F2" } ] }, { "ec_number": "1.14.18.5", "activity": "", "evidence": [ { "id": "Q8R2F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2F2" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "Q8R2F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2F2" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] } ] }, { "uniprot_ac": "Q94515", "gene_name": "ifc", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q94515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q94515" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "Q94515", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q94515" } ] } ] }, { "uniprot_ac": "Q9NPA2", "gene_name": "MMP25", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9NPA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPA2" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 307 ], "sequon_annotation_sites": [ { "start_pos": 81, "end_pos": 83 } ] }, "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", "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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 72 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }