{ "uniprot_canonical_ac": "O15270-1", "uniprot_ac": "O15270", "uniprot_id": "SPTC2_HUMAN", "mass": { "chemical_mass": 62924.0, "monoisotopic_mass": 62924.0 }, "refseq": { "ac": "NP_004854", "name": "serine palmitoyltransferase 2", "summary": "This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, "gene_names": [ { "name": "SPTLC2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15270", "id": "O15270" }, { "name": "KIAA0526", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15270", "id": "O15270" }, { "name": "LCB2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15270", "id": "O15270" }, { "name": "SPTLC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854", "id": "NP_004854" }, { "name": "hLCB2a; HSN1C; LCB2; LCB2A; NSAN1C; SPT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854", "id": "NP_004854" } ], "protein_names": [ { "name": "Serine palmitoyltransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15270" }, { "name": "2.3.1.50", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "LCB 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "LCB2a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "Long chain base biosynthesis protein 2a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "Long chain base biosynthesis protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "SPT 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "Serine-palmitoyl-CoA transferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15270" }, { "name": "serine palmitoyltransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854", "id": "NP_004854" }, { "name": "serine palmitoyltransferase, subunit II; LCB 2; SPT 2; serine-palmitoyl-CoA transferase 2; long chain base biosynthesis protein 2a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854", "id": "NP_004854" } ], "function": [ { "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 (PubMed:19648650, PubMed:19416851, PubMed:20920666, PubMed:20504773). The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core (PubMed:19416851). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851). 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). Crucial for adipogenesis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270#function" }, { "database": "PubMed", "id": "20920666", "url": "https://glygen.org/publication/PubMed/20920666" }, { "database": "PubMed", "id": "19416851", "url": "https://glygen.org/publication/PubMed/19416851" }, { "database": "PubMed", "id": "19648650", "url": "https://glygen.org/publication/PubMed/19648650" }, { "database": "UniProtKB", "id": "P97363", "url": "https://www.uniprot.org/uniprot/P97363#function" }, { "database": "PubMed", "id": "20504773", "url": "https://glygen.org/publication/PubMed/20504773" } ] }, { "annotation": "Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, { "database": "PubMed", "id": "36966328", "url": "https://glygen.org/publication/PubMed/36966328" } ] }, { "annotation": "Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, { "database": "PubMed", "id": "34090020", "url": "https://glygen.org/publication/PubMed/34090020" } ] }, { "annotation": "Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, { "database": "PubMed", "id": "38041679", "url": "https://glygen.org/publication/PubMed/38041679" } ] }, { "annotation": "Results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies.", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, { "database": "PubMed", "id": "12207934", "url": "https://glygen.org/publication/PubMed/12207934" } ] }, { "annotation": "Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, { "database": "PubMed", "id": "37107689", "url": "https://glygen.org/publication/PubMed/37107689" } ] }, { "annotation": "Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "annotation": "This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" } ] } ], "disease": [ { "disease_id": "DOID:0070157", "recommended_name": { "id": "DOID:0070157", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070157", "name": "hereditary sensory and autonomic neuropathy type 1C", "description": "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0070157", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070157", "name": "HSAN1C", "description": "" }, { "id": "DOID:0070157", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070157", "name": "hereditary sensory and autonomic neuropathy type IC", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "neuropathy, hereditary sensory and autonomic, type 1C", "description": "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "HSAN1C", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "hereditary sensory and autonomic neuropathy type IC", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "HSAN 1C", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "HSN 1C", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "hereditary sensory and autonomic neuropathy type 1C", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "neuropathy, hereditary sensory and autonomic, type IC", "description": "" }, { "id": "MONDO:0013337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013337", "name": "neuropathy, hereditary sensory, type 1C", "description": "" }, { "id": "MIM:613640", "resource": "MIM", "url": "https://www.omim.org/entry/613640", "name": "Neuropathy, hereditary sensory and autonomic, 1C", "description": "Neuropathy, hereditary sensory and autonomic, 1C" } ], "evidence": [ { "id": "613640", "database": "MIM", "url": "https://www.omim.org/entry/613640" } ] } ], "snv": [ { "evidence": [ { "id": "O15270", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15270" } ], "glycoeffect": [], "start_pos": 543, "end_pos": 543, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "77512345", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R543", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 122, "end_pos": 122, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreased catalytic activity with L-serine and palmitoyl-CoA as substrates. Does not affect the negative regulation by OMRDL3 and ceramides.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "37308477", "url": "https://glygen.org/publication/PubMed/37308477" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 126, "end_pos": 126, "sequence_org": "L", "sequence_mut": "W", "comment": "Some decrease in catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 130, "end_pos": 130, "sequence_org": "I", "sequence_mut": "W", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 134, "end_pos": 134, "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 176, "end_pos": 176, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 258, "end_pos": 258, "sequence_org": "S", "sequence_mut": "R", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 302, "end_pos": 302, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces the dimerization propensity with SPTLC1; reduces the dimerization propensity with SPTLC1; when associated with A-305. Does not impair enzymatic activity; when associated with A-304 and A-305.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558761", "url": "https://glygen.org/publication/PubMed/33558761" } ] }, { "start_pos": 304, "end_pos": 304, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces the dimerization propensity with SPTLC1; when associated with A-302 and A-304. Does not impair enzymatic activity; when associated with A-302 and A-304.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558761", "url": "https://glygen.org/publication/PubMed/33558761" } ] }, { "start_pos": 305, "end_pos": 305, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces the dimerization propensity with SPTLC1; when associated with A-302 and A-304. 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"https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 379, "end_pos": 379, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 479, "end_pos": 479, "sequence_org": "I", "sequence_mut": "W", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "33558762", "url": "https://glygen.org/publication/PubMed/33558762" } ] }, { "start_pos": 503, "end_pos": 503, "sequence_org": "I", "sequence_mut": "R", "comment": "Loss of negative regulation by OMRDL3 and ceramides.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "database": "PubMed", "id": "37308477", "url": "https://glygen.org/publication/PubMed/37308477" } ] }, { "start_pos": 509, "end_pos": 509, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of catalytic activity with L-serine and palmitoyl-CoA as substrates.", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "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": "81.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100596" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100596", "url": 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15270" } ], "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": 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"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": "O15270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15270" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15270" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15270" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15270", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15270" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15270" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://pharos.nih.gov/targets/O15270", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15270", "url": "http://purl.obolibrary.org/obo/PR_O15270", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854", "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": "H0YJ96", "url": "https://www.uniprot.org/uniprot/H0YJ96", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ96-1", "url": "https://www.uniprot.org/uniprot/H0YJ96-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJV2", "url": "https://www.uniprot.org/uniprot/H0YJV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJV2-1", "url": "https://www.uniprot.org/uniprot/H0YJV2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15270-1", "url": "https://www.uniprot.org/uniprot/O15270-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED", "length": 562, "header": "sp|O15270-1|SPTC2_HUMAN Isoform 1 of Serine palmitoyltransferase 2 OS=Homo sapiens OX=9606 GN=SPTLC2 PE=1 SV=1 CANONICAL=O15270-1" }, "isoforms": [ { "isoform_ac": "H0YJ96-1", "url": "", "sequence": { "sequence": "HSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGLFCFLSP", "length": 40, "header": "tr|H0YJ96-1|SPTC2_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 2 OS=Homo sapiens OX=9606 GN=SPTLC2 PE=1 SV=1 CANONICAL=O15270-1" }, "locus": { "chromosome": "14", "start_pos": 77552192, "end_pos": 77521593, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556607.1", "url": "https://www.ensembl.org/id/ENST00000556607.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451029.1", "url": "https://www.ensembl.org/id/ENSP00000451029.1" } ] } }, { "isoform_ac": "H0YJV2-1", "url": "", "sequence": { "sequence": "XETPMLVAVLTYVGYGVLTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGNGITIHEVVQTRNTYHRFSPLSPVFSHQCLWIMLP", "length": 407, "header": "tr|H0YJV2-1|SPTC2_HUMAN Computationally mapped isoform of Serine palmitoyltransferase 2 OS=Homo sapiens OX=9606 GN=SPTLC2 PE=1 SV=1 CANONICAL=O15270-1" }, "locus": { "chromosome": "14", "start_pos": 77597321, "end_pos": 77535897, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554901.1", "url": "https://www.ensembl.org/id/ENST00000554901.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452189.1", "url": "https://www.ensembl.org/id/ENSP00000452189.1" } ] } }, { "isoform_ac": "O15270-1", "url": "", "sequence": { "sequence": "MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED", "length": 562, "header": "sp|O15270-1|SPTC2_HUMAN Isoform 1 of Serine palmitoyltransferase 2 OS=Homo sapiens OX=9606 GN=SPTLC2 PE=1 SV=1 CANONICAL=O15270-1" }, "locus": { "chromosome": "14", "start_pos": 77616579, "end_pos": 77512287, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216484.7", "url": "https://www.ensembl.org/id/ENST00000216484.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000216484.2", "url": "https://www.ensembl.org/id/ENSP00000216484.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 384, "end_pos": 384, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15270" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O15270", "url": "http://phospho.elm.eu.org/byAccession/O15270.html" }, { "database": "PubMed", "id": "25567748", "url": "https://glygen.org/publication/PubMed/25567748" } ], "site_lbl": "Ser384" }, { "start_pos": 387, "end_pos": 387, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15270" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O15270", "url": "http://phospho.elm.eu.org/byAccession/O15270.html" }, { "database": "PubMed", "id": "25567748", "url": "https://glygen.org/publication/PubMed/25567748" } ], "site_lbl": "Tyr387" } ], "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": "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": "Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.", "journal": "Neuromuscular disorders : NMD", "date": "2002", "authors": "Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" } ], "reference": [ { "type": "PubMed", "id": "12207934", "url": "https://glygen.org/publication/PubMed/12207934" } ] }, { "title": "Molecular machinery for non-vesicular trafficking of ceramide.", "journal": "Nature", "date": "2003", "authors": "Hanada K, Kumagai K, Yasuda S, Miura Y, Kawano M, Fukasawa M, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685229", "url": "https://glygen.org/publication/PubMed/14685229" } ] }, { "title": "Identification of a family of animal sphingomyelin synthases.", "journal": "The EMBO journal", "date": "2004", "authors": "Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685263", "url": "https://glygen.org/publication/PubMed/14685263" } ] }, { "title": "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yamaoka S, Miyaji M, Kitano T, Umehara H, Okazaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14976195", "url": "https://glygen.org/publication/PubMed/14976195" } ] }, { "title": "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.", "journal": "FEBS letters", "date": "2004", "authors": "Mizutani Y, Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15063729", "url": "https://glygen.org/publication/PubMed/15063729" } ] }, { "title": "FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15328338", "url": "https://glygen.org/publication/PubMed/15328338" } ] }, { "title": "The human FA2H gene encodes a fatty acid 2-hydroxylase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15337768", "url": "https://glygen.org/publication/PubMed/15337768" } ] }, { "title": "LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lahiri S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16100120", "url": "https://glygen.org/publication/PubMed/16100120" } ] }, { "title": "SphK1 and SphK2, sphingosine kinase isoenzymes with opposing functions in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Maceyka M, Sankala H, Hait NC, Le Stunff H, Liu H, Toman R, Collier C, Zhang M, Satin LS, Merrill AH Jr, Milstien S, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16118219", "url": "https://glygen.org/publication/PubMed/16118219" } ] }, { "title": "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Perry RJ, Ridgway ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16571669", "url": "https://glygen.org/publication/PubMed/16571669" } ] }, { "title": "When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Pewzner-Jung Y, Ben-Dor S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16793762", "url": "https://glygen.org/publication/PubMed/16793762" } ] }, { "title": "Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kawano M, Kumagai K, Nishijima M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16895911", "url": "https://glygen.org/publication/PubMed/16895911" } ] }, { "title": "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Hornemann T, Richard S, Rutti MF, Wei Y, von Eckardstein A", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "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": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15270", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15270" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "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": [ { 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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": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "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": "Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "2024-01-11", "authors": "Syeda Safoora B, Lone Museer A, Mohassel Payam, Donkervoort Sandra, Munot Pinki, Fran\u00e7a Marcondes C, Galarza-Brito Juan Eli, Eckenweiler Matthias, Asamoah Alexander, Gable Kenneth, Majumdar Anirban, Schumann Anke, Gupta Sita D, Lakhotia Arpita, Shieh Perry B, Foley A Reghan, Jackson Kelly E, Chao Katherine R, Winder Thomas L, Catapano Francesco, Feng Lucy, Kirschner Janbernd, Muntoni Francesco, Dunn Teresa M, Hornemann Thorsten, B\u00f6nnemann Carsten G", "evidence": [ { "database": "RefSeq", "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854" } ], "reference": [ { "type": "PubMed", "id": "38041679", "url": "https://glygen.org/publication/PubMed/38041679" } ] }, { "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": "A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones.", "journal": "Hum. Mol. Genet.", "date": "1993", "authors": "Takeda J, Yano H, Eng S, Zeng Y, Bell GI", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "reference": [ { "type": "PubMed", "id": "7506601", "url": "https://glygen.org/publication/PubMed/7506601" } ] }, { "title": "Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase.", "journal": "Gene", "date": "1996", "authors": "Nagiec M M, Lester R L, Dickson R C", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "reference": [ { "type": "PubMed", "id": "8921873", "url": "https://glygen.org/publication/PubMed/8921873" } ] }, { "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": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" }, { "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:9517", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9517", "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": "P40970-1", "protein_name": "Serine palmitoyltransferase 2", "gene_name": "LCB2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSTPANYTRVPLCEPEELPDDIQKENEYGTLDSPGHLYQVKSRHGKPLPEPVVDTPPYYISLLTYLNYLILIILGHVHDFLGMTFQKNKHLDLLEHDGLAPWFSNFESFYVRRIKMRIDDCFSRPTTGVPGRFIRCIDRISHNINEYFTYSGAVYPCMNLSSYNYLGFAQSKGQCTDAALESVDKYSIQSGGPRAQIGTTDLHIKAEKLVARFIGKEDALVFSMGYGTNANLFNAFLDKKCLVISDELNHTSIRTGVRLSGAAVRTFKHGDMVGLEKLIREQIVLGQPKTNRPWKKILICAEGLFSMEGTLCNLPKLVELKKKYKCYLFIDEAHSIGAMGPTGRGVCEIFGVDPKDVDILMGTFTKSFGAAGGYIAADQWIIDRLRLDLTTVSYSESMPAPVLAQTISSLQTISGEICPGQGTERLQRIAFNSRYLRLALQRLGFIVYGVADSPVIPLLLYCPSKMPAFSRMMLQRRIAVVVVAYPATPLIESRVRFCMSASLTKEDIDYLLRHVSEVGDKLNLKSNSGKSSYDGKRQRWDIEEVIRRTPEDCKDDKYFVN", "length": 561 }, "evidence": [ { "id": "O15270", "url": "https://omabrowser.org/oma/group/O15270/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P97363-1", "protein_name": "Serine palmitoyltransferase 2", "gene_name": "Sptlc2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRPEPGGCCCRRPMRANGCVKNGEVRNGYLRSSTATVAAAGQIHHVTENGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRHWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGAKVDIMERKSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAEVLKEYGAGVCSTRQEIGNLDKHEELEKLVARFLGVEAAMTYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPSGRGVVDYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSMSPPVMEQIITSMKCIMGQDGTSLGKECIQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED", "length": 560 }, "evidence": [ { "id": "45926273", "url": "http://www.informatics.jax.org/homology/45926273", "database": "MGI" }, { "id": "O15270", "url": "https://omabrowser.org/oma/group/O15270/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q3B7D2-1", "protein_name": "Serine palmitoyltransferase 2", "gene_name": "Sptlc2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRPEPGGCCCRRPMRANGCVKNGEVRNGYLRSSTATIAAAGQIHHITENGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRHWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGAKVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAEVLKTYGAGVCSTRQEIGNLDKHEELEKLVARFLGVEAALTYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPSGRGVVDYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSMSPPVMEQIITSMKCIMGQDGTSLGKECIQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRPLPLLDRPFDETTYEETED", "length": 560 }, "evidence": [ { "id": "45926273", "url": "http://www.informatics.jax.org/homology/45926273", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9V3F2-1", "protein_name": "serine C-palmitoyltransferase", "gene_name": "lace", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MGNFDGDSGTVFEQSYATTNGNGKVPNGNGAADLSAPEKQELLRKFSAPAYTEIRTRRCQPKPANDAQSPSSINYHPEKKSIPNGHASILDQESKPNQAEGKLSPELEHFQKTSFEEVPLHTACLTYLGFYLLMILGYINQLLFVPKVATEKGRDGYVALYDAFESFYSRYVYRRIKDCWNRPICSVPGDELTLKDRVTDDYGWSFKFTGTETRCLNLGSYNYLGFAAATGQCADDSEESARSSGLAYCSSRCELGDNEQLQELEALTARYFGVEDAIVFGMGFATNALNLPSLLGPNSLVISDEKNHASIILGLRLSGATTKVFKHNNMRDLERVLRQGVCYGNPKKGGQPWDKVMILVEGIFSMEGSIVRLPEVIALKKKYKAYLYLDEAHSVGAMGSRGRGVTDYFNVDPKEVDILMGTFTKSFGSAGGYLAGSKKLIDFLRTNSHAHCYAASISPPIAQQILTSMKTIMGEDGTDIGRKKIHQLARNTRYFRRRLAQLGVITYGHEDSPVVPMLVYLFSKIGAVVRTLTTRHIAAVGAGFPATPIMEGRIRFCLSAAHTKEQLDFALEAIDEIADDLGLKYSRKPRDPNPVIY", "length": 597 }, "evidence": [ { "id": "O15270", "url": "https://omabrowser.org/oma/group/O15270/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "sphingomyelin biosynthetic process", "id": "GO:0006686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006686", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "sphinganine biosynthetic process", "id": "GO:0046511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046511", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "sphingosine biosynthetic process", "id": "GO:0046512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046512", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "positive regulation of lipophagy", "id": "GO:1904504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904504", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "biosynthetic process", "id": "GO:0009058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009058", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "serine C-palmitoyltransferase activity", "id": "GO:0004758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004758", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "serine C-palmitoyltransferase complex", "id": "GO:0017059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017059", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15270", "url": "https://www.uniprot.org/uniprot/O15270" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 157, "end_pos": 159, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "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": "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": [ { 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"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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"ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "Q9NUV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NUV7" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "Q9NUV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NUV7" } ] } ] }, { "uniprot_ac": "Q9V3F2", "gene_name": "lace", "activity": [ { "ec_number": "2.3.1.50", "activity": "H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA.", "evidence": [ { "id": "Q9V3F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3F2" } ] }, { "ec_number": "2.3.1.50", "activity": "", "evidence": [ { "id": "Q9V3F2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3F2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 543 ], "glycation_sites": [], "phosphorylation_sites": [ 384, 387 ], "sequon_annotation_sites": [ { "start_pos": 157, "end_pos": 159 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": 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"table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 73 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }