{ "uniprot_canonical_ac": "O15269-1", "uniprot_ac": "O15269", "uniprot_id": "SPTC1_HUMAN", "mass": { "chemical_mass": 52744.0, "monoisotopic_mass": 52744.0 }, "refseq": { "ac": "NP_001268232", "name": "serine palmitoyltransferase 1 isoform c", "summary": "This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" }, "gene_names": [ { "name": "SPTLC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15269", "id": "O15269" }, { "name": "ALS27; HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232", "id": "NP_001268232" }, { "name": "LCB1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15269", "id": "O15269" }, { "name": "SPTLC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232", "id": "NP_001268232" } ], "protein_names": [ { "name": "Serine palmitoyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15269" }, { "name": "2.3.1.50", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15269" }, { "name": "LCB 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15269" }, { "name": "Long chain base biosynthesis protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15269" }, { "name": "SPT 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15269" }, { "name": "SPT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15269" }, { "name": "Serine-palmitoyl-CoA transferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15269" }, { "name": "long chain base biosynthesis protein 1; serine-palmitoyl-CoA transferase 1; serine C-palmitoyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232", "id": "NP_001268232" }, { "name": "serine palmitoyltransferase 1 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232", "id": "NP_001268232" } ], "function": [ { "annotation": "Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" }, { "database": "PubMed", "id": "36801857", "url": "https://glygen.org/publication/PubMed/36801857" } ] }, { "annotation": "Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases. The SPT complex is also composed of SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer with SPTLC2 or SPTLC3 forms the catalytic core (PubMed:19416851, PubMed:33558762). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851, PubMed:33558762). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19648650, PubMed:19416851). The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19648650, PubMed:19416851, PubMed:33558761, PubMed:33558762). Required for adipocyte cell viability and metabolic homeostasis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269#function" }, { "database": "PubMed", "id": "19416851", "url": "https://glygen.org/publication/PubMed/19416851" }, { "database": "UniProtKB", "id": "O35704", "url": "https://www.uniprot.org/uniprot/O35704#function" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" }, { "database": "PubMed", "id": "33558761", "url": "https://glygen.org/publication/PubMed/33558761" }, { "database": "PubMed", "id": "19648650", "url": "https://glygen.org/publication/PubMed/19648650" } ] }, { "annotation": "Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" }, { "database": "PubMed", "id": "36966328", "url": "https://glygen.org/publication/PubMed/36966328" } ] }, { "annotation": "New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" }, { "database": "PubMed", "id": "35627278", "url": "https://glygen.org/publication/PubMed/35627278" } ] }, { "annotation": "Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" }, { "database": "PubMed", "id": "36689507", "url": "https://glygen.org/publication/PubMed/36689507" } ] }, { "annotation": "The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" }, { "database": "PubMed", "id": "35904184", "url": "https://glygen.org/publication/PubMed/35904184" } ] }, { "annotation": "This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" } ] } ], "disease": [ { "disease_id": "DOID:0050548", "recommended_name": { "id": "DOID:0050548", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050548", "name": "hereditary sensory neuropathy", "description": "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages." }, "synonyms": [ { "id": "DOID:0050548", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050548", "name": "familial dysautonomia, type II", "description": "" }, { "id": "DOID:0050548", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory and autonomic, type 1A", "description": "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSAN1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "SPTLC1 hereditary sensory and autonomic neuropathy type 1", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSAN 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSN 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory and autonomic, type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory, type 1A", "description": "" }, { "id": "MIM:162400", "resource": "MIM", "url": "https://www.omim.org/entry/162400", "name": "Neuropathy, hereditary sensory and autonomic, 1A", "description": "Neuropathy, hereditary sensory and autonomic, 1A" } ], "evidence": [ { "id": "162400", "database": "MIM", "url": "https://www.omim.org/entry/162400" } ] }, { "disease_id": "DOID:0070152", "recommended_name": { "id": "DOID:0070152", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070152", "name": "hereditary sensory and autonomic neuropathy type 1A", "description": "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0070152", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070152", "name": "HSAN1A", "description": "" }, { "id": "DOID:0070152", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070152", "name": "hereditary sensory and autonomic neuropathy type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory and autonomic, type 1A", "description": "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSAN1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "SPTLC1 hereditary sensory and autonomic neuropathy type 1", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSAN 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "HSN 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "hereditary sensory and autonomic neuropathy type 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory and autonomic, type IA", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A", "description": "" }, { "id": "MONDO:0008086", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008086", "name": "neuropathy, hereditary sensory, type 1A", "description": "" }, { "id": "MIM:162400", "resource": "MIM", "url": "https://www.omim.org/entry/162400", "name": "Neuropathy, hereditary sensory and autonomic, 1A", "description": "Neuropathy, hereditary sensory and autonomic, 1A" } ], "evidence": [ { "id": "162400", "database": "MIM", "url": "https://www.omim.org/entry/162400" } ] }, { "disease_id": "DOID:0081381", "recommended_name": { "id": "DOID:0081381", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081381", "name": "juvenile amyotrophic lateral sclerosis type 27", "description": "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22." }, "synonyms": [ { "id": "MONDO:0859529", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859529", "name": "amyotrophic lateral sclerosis 27, juvenile", "description": "" }, { "id": "MIM:620285", "resource": "MIM", "url": "https://www.omim.org/entry/620285", "name": "Amyotrophic lateral sclerosis 27, juvenile", "description": "Amyotrophic lateral sclerosis 27, juvenile" } ], "evidence": [ { "id": "620285", "database": "MIM", "url": "https://www.omim.org/entry/620285" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 138, "end_pos": 138, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreased catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 164, "end_pos": 164, "sequence_org": "Y", "sequence_mut": "F", "comment": "Increased serine palmitoyltransferase activity and sphingolipid content.", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "database": "PubMed", "id": "23629659", "url": "https://glygen.org/publication/PubMed/23629659" } ] }, { "start_pos": 337, "end_pos": 337, "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 338, "end_pos": 338, "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "91.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "92.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000090054", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000090054" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15269" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15269" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15269" } ], "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": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15269", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15269" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"categories": [ "Protein Classification" ] }, { "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "14761", "url": "https://www.rhea-db.org/rhea/14761", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "33683", "url": "https://www.rhea-db.org/rhea/33683", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "35675", "url": "https://www.rhea-db.org/rhea/35675", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "35679", "url": "https://www.rhea-db.org/rhea/35679", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2R8Y4S0", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4S0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4S0-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4S0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6A2", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6A2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6A2-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6A2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y763", "url": "https://www.uniprot.org/uniprot/A0A2R8Y763", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y763-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y763-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KUM4", "url": "https://www.uniprot.org/uniprot/A0A8I5KUM4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KUM4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KUM4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KWE0", "url": "https://www.uniprot.org/uniprot/A0A8I5KWE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KWE0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KWE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJP4", "url": "https://www.uniprot.org/uniprot/A0A8I5QJP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJP4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QJP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKQ8", "url": "https://www.uniprot.org/uniprot/A0A8I5QKQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKQ8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15269-1", "url": "https://www.uniprot.org/uniprot/O15269-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15269-2", "url": "https://www.uniprot.org/uniprot/O15269-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL", "length": 473, "header": "sp|O15269-1|SPTC1_HUMAN Isoform 1 of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y4S0-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFG", "length": 143, "header": "tr|A0A2R8Y4S0-1|SPTC1_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92070295, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644140.1", "url": "https://www.ensembl.org/id/ENST00000644140.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493933.1", "url": "https://www.ensembl.org/id/ENSP00000493933.1" } ] } }, { "isoform_ac": "A0A2R8Y6A2-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFEN", "length": 144, "header": "tr|A0A2R8Y6A2-1|SPTC1_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92077031, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687817.1", "url": "https://www.ensembl.org/id/ENST00000687817.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508926.1", "url": "https://www.ensembl.org/id/ENSP00000508926.1" } ] } }, { "isoform_ac": "A0A2R8Y763-1", "url": "", "sequence": { "sequence": "ASLKKYGVGTCGPRGFYGTFEN", "length": 22, "header": "tr|A0A2R8Y763-1|SPTC1_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92080076, "end_pos": 92077031, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643599.1", "url": "https://www.ensembl.org/id/ENST00000643599.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494770.1", "url": "https://www.ensembl.org/id/ENSP00000494770.1" } ] } }, { "isoform_ac": "A0A8I5KUM4-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPRVFSGLETSRFIWEYRVQAAEELERRVLRPGAKSGRLQESPLGSLNALPAHSARPGFGRSLW", "length": 504, "header": "tr|A0A8I5KUM4-1|SPTC1_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92033883, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686600.1", "url": "https://www.ensembl.org/id/ENST00000686600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509268.1", "url": "https://www.ensembl.org/id/ENSP00000509268.1" } ] } }, { "isoform_ac": "A0A8I5KWE0-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSG", "length": 87, "header": "tr|A0A8I5KWE0-1|A0A8I5KWE0_HUMAN Computationally mapped isoform of Serine palmitoyltransferase long chain base subunit 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92108739, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461132.2", "url": "https://www.ensembl.org/id/ENST00000461132.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000509096.1", "url": "https://www.ensembl.org/id/ENSP00000509096.1" } ] } }, { "isoform_ac": "A0A8I5QJP4-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYELRKGTRVRGRRRQVCKNQSLDGR", "length": 42, "header": "tr|A0A8I5QJP4-1|A0A8I5QJP4_HUMAN Computationally mapped isoform of Serine palmitoyltransferase long chain base subunit 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=4 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92114998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488921.6", "url": "https://www.ensembl.org/id/ENST00000488921.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000510034.1", "url": "https://www.ensembl.org/id/ENSP00000510034.1" } ] } }, { "isoform_ac": "A0A8I5QKQ8-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFAPVSEMDHTHRRYGHQKLKKNVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL", "length": 493, "header": "tr|A0A8I5QKQ8-1|A0A8I5QKQ8_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92032468, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687972.1", "url": "https://www.ensembl.org/id/ENST00000687972.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509208.1", "url": "https://www.ensembl.org/id/ENSP00000509208.1" } ] } }, { "isoform_ac": "O15269-1", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL", "length": 473, "header": "sp|O15269-1|SPTC1_HUMAN Isoform 1 of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92032468, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262554.7", "url": "https://www.ensembl.org/id/ENST00000262554.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000262554.2", "url": "https://www.ensembl.org/id/ENSP00000262554.2" } ] } }, { "isoform_ac": "O15269-2", "url": "", "sequence": { "sequence": "MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFE", "length": 143, "header": "sp|O15269-2|SPTC1_HUMAN Isoform 2 of Serine palmitoyltransferase 1 OS=Homo sapiens OX=9606 GN=SPTLC1 PE=1 SV=1 CANONICAL=O15269-1" }, "locus": { "chromosome": "9", "start_pos": 92115370, "end_pos": 92079565, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337841.4", "url": "https://www.ensembl.org/id/ENST00000337841.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000337635.4", "url": "https://www.ensembl.org/id/ENSP00000337635.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 164, "end_pos": 164, "kinase_uniprot_canonical_ac": "P00519-1", "kinase_gene_name": "ABL1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15269", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15269" }, { "database": "PubMed", "id": "23629659", "url": "https://glygen.org/publication/PubMed/23629659" } ], "site_lbl": "Tyr164" }, { "start_pos": 164, "end_pos": 164, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by ABL", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "database": "iPTMnet", "id": "O15269", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15269" }, { "database": "PubMed", "id": "23629659", "url": "https://glygen.org/publication/PubMed/23629659" } ], "site_lbl": "Tyr164" }, { "start_pos": 443, "end_pos": 443, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15269", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15269" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser443" } ], "glycation": [], "keywords": [ "enzyme" ], "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": "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.", "journal": "Nature genetics", "date": "2001", "authors": "Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "11242114", "url": "https://glygen.org/publication/PubMed/11242114" } ] }, { "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": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "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": "SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.", "journal": "Neurology", "date": "2004", "authors": "Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "15037712", "url": "https://glygen.org/publication/PubMed/15037712" } ] }, { "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": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Hornemann T, Richard S, Rutti MF, Wei Y, von Eckardstein A", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "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": "Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.", "journal": "Neurology", "date": "2006", "authors": "Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "17060578", "url": "https://glygen.org/publication/PubMed/17060578" } ] }, { "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": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "O15269-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15269-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "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": "A systematic comparison of all mutations in hereditary sensory neuropathy type 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"Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.", "journal": "JAMA neurology", "date": "2021", "authors": "Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chio A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Perez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, 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Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chio A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chio A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "34459874", "url": "https://glygen.org/publication/PubMed/34459874" } ] }, { "title": "New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.", "journal": "Genes", "date": "2022", "authors": "Kolbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preusse C, Roos A", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" } ], "reference": [ { "type": "PubMed", "id": "35627278", "url": "https://glygen.org/publication/PubMed/35627278" } ] }, { "title": "The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.", "journal": "Neuropathology and applied neurobiology", "date": "2022-12", "authors": "Fiorillo Chiara, Capodivento Giovanna, Geroldi Alessandro, Tozza Stefano, Moroni Isabella, Mohassel Payam, Cataldi Matteo, Campana Chiara, Morando Simone, Panicucci Chiara, Pedemonte Marina, Brolatti Noemi, Siliquini Sabrina, Traverso Monica, Baratto Serena, Debellis Doriana, Magri Stefania, Prada Valeria, Bellone Emilia, Salpietro Vincenzo, Donkervoort Sandra, Gable Kenneth, Gupta Sita D, Dunn Teresa M, B\u00f6nnemann Carsten G, Taroni Franco, Bruno Claudio, Schenone Angelo, Mandich Paola, Nobbio Lucilla, Nolano Maria", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" } ], "reference": [ { "type": "PubMed", "id": "35904184", "url": "https://glygen.org/publication/PubMed/35904184" } ] }, { "title": "A de novo c.113 T\u2009>\u2009C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.", "journal": "Amyotrophic lateral sclerosis & frontotemporal degeneration", "date": "2022-11", "authors": "Liu Xiaoxuan, He Ji, Yu Weiyi, Fan Dongsheng", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "36204986", "url": "https://glygen.org/publication/PubMed/36204986" } ] }, { "title": "Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.", "journal": "The British journal of dermatology", "date": "2023-01-23", "authors": "J\u00e4gle Sabine, Hsu Hao-Hsiang, Juratli Hazem A, Zimmer Andreas D, Prieschl Amelie, Alter Svenja, Wiedenhofer Bernhard, Metze Dieter, Emmert Steffen, Fischer Judith", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" } ], "reference": [ { "type": "PubMed", "id": "36689507", "url": "https://glygen.org/publication/PubMed/36689507" } ] }, { "title": "Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.", "journal": "Chinese medical journal", "date": "2023-01-20", "authors": "Wang Peishan, Wei Qiao, Li Hongfu, Wu Zhi-Ying", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" } ], "reference": [ { "type": "PubMed", "id": "36801857", "url": "https://glygen.org/publication/PubMed/36801857" } ] }, { "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": "Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.", "journal": "Human genomics", "date": "2023-03-25", "authors": "Li Chunyu, Hou Yanbing, Wei Qianqian, Lin Junyu, Jiang Zheng, Jiang Qirui, Yang Tianmi, Xiao Yi, Huang Jingxuan, Cheng Yangfan, Ou Ruwei, Liu Kuncheng, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Cao Bei, Chen Yongping, Shang Huifang", "evidence": [ { "database": "RefSeq", "id": "NP_001268232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268232" } ], "reference": [ { "type": "PubMed", "id": "36966328", "url": "https://glygen.org/publication/PubMed/36966328" } ] }, { "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": "Ceramide sensing by human SPT-ORMDL complex for establishing sphingolipid homeostasis.", "journal": "Nature communications", "date": "2023-06-13", "authors": "Xie Tian, Liu Peng, Wu Xinyue, Dong Feitong, Zhang Zike, Yue Jian, Mahawar Usha, Farooq Faheem, Vohra Hisham, Fang Qi, Liu Wenchen, Wattenberg Binks W, Gong Xin", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "reference": [ { "type": "PubMed", "id": "37308477", "url": "https://glygen.org/publication/PubMed/37308477" } ] }, { "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": "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": "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": "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": "Eur. J. Biochem.", "date": "1997", "authors": "Weiss B, Stoffel W", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "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:10558", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10558", "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" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A2H2-1", "protein_name": "Serine palmitoyltransferase 1", "gene_name": "Sptlc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATVAEQWVLVEMVQALYEAPAYHLILEGILILWIIRLVFSKTYKLQERSDLTAKEKEELIEEWQPEPLVPPVSRNHPALNYNIVSGPPTHNIVVNGKECVNFASFNFLGLLANPRVKAAAFASLKKYGVGTCGPRGFYGTFDVHLDLEERLAKFMKTEEAIIYSYGFSTIASAIPAYSKRGDIVFVDSAACFAIQKGLQASRSDIKLFKHNDVADLERLLKEQEIEDQKNPRKARVTRRFIVAEGLYMNTGTICPLPELVRLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGISIDDIDLISANMENALASVGGFCCGRSFVVDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKKKCQTIHKSLQGVSGLKVVGESLCPALHLQLEESTGSRERDMKLLQEIVEQCMNKGIALTQARYLDKEEKCLPPPSIRVVVTVEQTDEELQRAAATIREAAQAVLL", "length": 473 }, "evidence": [ { "id": "45930147", "url": "http://www.informatics.jax.org/homology/45930147", "database": "MGI" }, { "id": "O15269", "url": "https://omabrowser.org/oma/group/O15269/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O35704-1", "protein_name": "Serine palmitoyltransferase 1", "gene_name": "Sptlc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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biosynthetic process", "id": "GO:0046511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046511", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "sphingolipid metabolic process", "id": "GO:0006665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "sphingosine biosynthetic 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"go_terms": [ { "name": "serine C-palmitoyltransferase activity", "id": "GO:0004758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004758", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "serine C-palmitoyltransferase complex", "id": "GO:0017059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017059", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "SPOTS complex", "id": "GO:0035339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035339", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 421, "end_pos": 423, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation at Tyr-164 inhibits activity and promotes cell survival.", "evidence": [ { "database": "UniProtKB", "id": "O15269", "url": "https://www.uniprot.org/uniprot/O15269" }, { "database": "PubMed", "id": "23629659", "url": "https://glygen.org/publication/PubMed/23629659" } ] } ], "interactions": [], "reactions": [ { "id": "14761", "name": "", "equation": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q3B7D2-1", "D4A2H2-1", "O15270-1", "O15269-1", "Q9NUV7-1", "O35704-1", "Q8BG54-1", "P97363-1", "P25045-1", "P40970-1", "Q54EX5-1", "Q55FL5-1", "Q9V3F2-1" ], "evidence": [ { "id": "14761", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14761" } ] }, { "id": "33683", "name": "", "equation": "H(+) + L-serine + octadecanoyl-CoA = 3-oxoeicosasphinganine + CO2 + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q3B7D2-1", "D4A2H2-1", "O15270-1", "O15269-1", "Q9NUV7-1", "O35704-1", "Q8BG54-1", "P97363-1" ], "evidence": [ { "id": "33683", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33683" } ] }, { "id": "35675", "name": "", "equation": "H(+) + L-serine + tetradecanoyl-CoA = 3-oxohexadecasphinganine + CO2 + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4A2H2-1", "O15269-1", "Q9NUV7-1", "O35704-1", "Q8BG54-1" ], "evidence": [ { "id": "35675", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/35675" } ] }, { "id": "35679", "name": "", "equation": "dodecanoyl-CoA + H(+) + L-serine = 3-oxotetradecasphinganine + CO2 + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4A2H2-1", "O15269-1", "Q9NUV7-1", "O35704-1", "Q8BG54-1" ], "evidence": [ { "id": "35679", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/35679" } ] }, { "id": "R-HSA-428127", "name": "SPTLC complexes transfer acyl-CoA onto serine", "equation": "", "summary": "SPTLC (serine palmitoyltransferase) enzyme complexes associated with the endoplasmic reticulum membrane catalyze the reaction of acyl-CoA and serine to form a 3-ketosphingoid. Quantitatively, the most common ligand is palmitoyl-CoA (C16), but different isoforms of the complexes have specific activity toward the C12, C14, and C18 species (Han et al., 2009; Suzuki et al., 2022). SPTLC2 and SPTLC3 polypeptides exhibit enzyme activity when either is complexed with SPTLC1. SPTLC1 and 2 are abundant and widely expressed in human tissues, while SPTLC3 is expressed only in a smaller group of tissues and at variable levels. Analyses of complexes from cultured human cells and placenta suggested that the SPTLC heterodimers might associate with larger complexes (Hanada et al., 2000; Weiss and Stoffel, 1997; Hornemann et al. 2006, 2007; reviewed by Ikushiro & Hayashi, 2011; Lowther et al., 2012). Two novel small subunits (SPTSSA and SPTSSB) were identified, both of which enhance SPTLC activity >10-fold when bound to either of the SPTLC heterodimers (Han et al. 2009). Orosomucoid (ORM) proteins, first identified in yeast, associate with and negatively regulate SPTLC activity (Breslow et al. 2010; Han et al. 2010). The three human ORM proteins similarly bind and negatively regulate SPTLC activity (Breslow et al., 2010; reviewed by Davis et al., 2018). In particular, dysregulation of SPT activity by ORML3 appears to be involved with forms of obesity (reviewed by Brown & Spiegel, 2023). In serine deficiency, SPTLC transfers acyl-CoA onto alanine, and the resulting 1-deoxysphingoids ultimately get processed to 1-deoxyceramides (reviewed by Duan & Merrill, 2015).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-9841798" ], "enzyme_list": [ "O15269-1", "O15270-1", "Q9NUV7-1" ], "evidence": [ { "id": "R-HSA-428127", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-428127" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9841798", "participant_name": "3-ketosphingoid [endoplasmic reticulum membrane]", "crossref": [ { "id": "84411", "database": "ChEBI", "url": "" }, { "id": "84411", "database": "ChEBI", "url": "" }, { "id": "84411", "database": "ChEBI", "url": "" }, { "id": "84411", "database": "ChEBI", "url": "" }, { "id": "84411", "database": "ChEBI", "url": "" }, { "id": "84411", "database": "ChEBI", "url": "" }, { "id": "84411", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D4A2H2", "gene_name": "Sptlc1", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "D4A2H2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A2H2" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "D4A2H2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A2H2" } ] } ] }, { "uniprot_ac": "O15269", "gene_name": "SPTLC1", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "O15269", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15269" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "O15269", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15269" } ] } ] }, { "uniprot_ac": "O15270", "gene_name": "SPTLC2", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "O15270", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15270" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "O15270", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15270" } ] } ] }, { "uniprot_ac": "O35704", "gene_name": "Sptlc1", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "O35704", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35704" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "O35704", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35704" } ] } ] }, { "uniprot_ac": "P25045", "gene_name": "LCB1", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "P25045", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25045" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "P25045", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25045" } ] } ] }, { "uniprot_ac": "P40970", "gene_name": "LCB2", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "P40970", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40970" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "P40970", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40970" } ] } ] }, { "uniprot_ac": "P97363", "gene_name": "Sptlc2", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "P97363", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97363" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "P97363", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97363" } ] } ] }, { "uniprot_ac": "Q3B7D2", "gene_name": "Sptlc2", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "Q3B7D2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3B7D2" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "Q3B7D2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3B7D2" } ] } ] }, { "uniprot_ac": "Q54EX5", "gene_name": "sptB", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "Q54EX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54EX5" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "Q54EX5", "database": "UniProtKB", "url": 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