{ "uniprot_canonical_ac": "O60906-1", "uniprot_ac": "O60906", "uniprot_id": "NSMA_HUMAN", "mass": { "chemical_mass": 47646.0, "monoisotopic_mass": 47646.0 }, "refseq": { "ac": "NP_003071", "name": "sphingomyelin phosphodiesterase 2", "summary": "This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071" }, "gene_names": [ { "name": "SMPD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60906", "id": "O60906" }, { "name": "ISC1; NSMASE; NSMASE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071", "id": "NP_003071" }, { "name": "SMPD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071", "id": "NP_003071" } ], "protein_names": [ { "name": "Sphingomyelin phosphodiesterase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60906" }, { "name": "3.1.4.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "Lyso-PAF-PLC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "Lyso-platelet-activating factor-phospholipase C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "N-SMase; lyso-PAF-PLC; neutral sphingomyelinase; lyso-platelet-activating factor-phospholipase C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071", "id": "NP_003071" }, { "name": "N-SMase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "Neutral sphingomyelinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "nSMase1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "nSMase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60906" }, { "name": "sphingomyelin phosphodiesterase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071", "id": "NP_003071" } ], "function": [ { "annotation": "Catalyzes, at least in vitro, the hydrolysis of sphingomyelin to form ceramide and phosphocholine (PubMed:10608884). Also hydrolyzes 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor) in vivo (PubMed:10608884). Also acts on 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and sphingosylphosphocholine (PubMed:10608884, PubMed:14741383).", "evidence": [ { "database": "UniProtKB", "id": "O60906", "url": "https://www.uniprot.org/uniprot/O60906#function" }, { "database": "PubMed", "id": "14741383", "url": "https://glygen.org/publication/PubMed/14741383" }, { "database": "PubMed", "id": "10608884", "url": "https://glygen.org/publication/PubMed/10608884" } ] }, { "annotation": "Neutral sphingomyelinase inhibition promotes local and network degeneration in vitro and in vivo. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071" }, { "database": "PubMed", "id": "37904133", "url": "https://glygen.org/publication/PubMed/37904133" } ] }, { "annotation": "This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_003071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003071" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "64.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "52.69", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "72.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135587" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60906", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60906" } ], "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", 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"end_pos": 270, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60906" }, { "database": "PubMed", "id": "25168245", "url": "https://glygen.org/publication/PubMed/25168245" } ], "site_lbl": "Ser270" }, { "start_pos": 86, "end_pos": 86, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60906", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60906" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser86" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.", "journal": "Genomics", "date": "1999", "authors": "Monti E, Preti A, Rossi E, Ballabio A, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10191093", "url": "https://glygen.org/publication/PubMed/10191093" } ] }, { "title": "An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10196694", "url": "https://glygen.org/publication/PubMed/10196694" } ] }, { "title": "Structural and membrane-binding properties of saposin D.", "journal": "European journal of biochemistry", "date": "1999-07", "authors": "Tatti M, Salvioli R, Ciaffoni F, Pucci P, Andolfo A, Amoresano A, Vaccaro A M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10406958", "url": "https://glygen.org/publication/PubMed/10406958" } ] }, { "title": "Function of the cloned putative neutral sphingomyelinase as lyso-platelet activating factor-phospholipase C.", "journal": "The Journal of biological chemistry", "date": "1999-12-31", "authors": "Sawai H, Domae N, Nagan N, Hannun Y A", "evidence": [ { "database": "UniProtKB", "id": "O60906", "url": "https://www.uniprot.org/uniprot/O60906" } ], "reference": [ { "type": "PubMed", "id": "10608884", "url": "https://glygen.org/publication/PubMed/10608884" } ] }, { "title": "Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids.", "journal": "FEBS letters", "date": "2000", "authors": "Salvioli R, Tatti M, Ciaffoni F, Vaccaro AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10781797", "url": "https://glygen.org/publication/PubMed/10781797" } ] }, { "title": "Cloning and characterization of the mammalian brain-specific, Mg2+-dependent neutral sphingomyelinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Hofmann K, Tomiuk S, Wolff G, Stoffel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10823942", "url": "https://glygen.org/publication/PubMed/10823942" } ] }, { "title": "Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.", "journal": "The Biochemical journal", "date": "2000", "authors": "Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10861246", "url": "https://glygen.org/publication/PubMed/10861246" } ] }, { "title": "Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP.", "journal": "The Journal of biological chemistry", "date": "2000-11-17", "authors": "Wilkening G, Linke T, Uhlhorn-Dierks G, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10942779", "url": "https://glygen.org/publication/PubMed/10942779" } ] }, { "title": "Human acid ceramidase gene: novel mutations in Farber disease.", "journal": "Molecular genetics and metabolism", "date": "2000", "authors": "Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10993717", "url": "https://glygen.org/publication/PubMed/10993717" } ] }, { "title": "Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.", "journal": "Molecular genetics and metabolism", "date": "2001-05", "authors": "Whitfield P D, Sharp P C, Johnson D W, Nelson P, Meikle P J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11350180", "url": "https://glygen.org/publication/PubMed/11350180" } ] }, { "title": "Involvement of FAN in TNF-induced apoptosis.", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Segui B, Cuvillier O, Adam-Klages S, Garcia V, Malagarie-Cazenave S, Leveque S, Caspar-Bauguil S, Coudert J, Salvayre R, Kronke M, Levade T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626978", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626978" } ], "reference": [ { "type": "PubMed", "id": "11435466", "url": "https://glygen.org/publication/PubMed/11435466" } ] }, { "title": "Molecular cloning and expression of human bile acid beta-glucosidase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matern H, Boermans H, Lottspeich F, Matern S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11489889", "url": "https://glygen.org/publication/PubMed/11489889" } ] }, { "title": "Physiological substrates for human lysosomal beta -hexosaminidase S.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hepbildikler ST, Sandhoff R, Kolzer M, Proia RL, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11707436", "url": "https://glygen.org/publication/PubMed/11707436" } ] }, { "title": "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Berrin JG, McLauchlan WR, Needs P, Williamson G, Puigserver A, Kroon PA, Juge N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11784319", "url": "https://glygen.org/publication/PubMed/11784319" } ] }, { "title": "Study of interaction of GM2 activator protein with GM2 using circular dichroism and fluorescence spectroscopy.", "journal": "Neurochemical research", "date": "2002-08", "authors": "Ravasi Daniela, Masserini Massimo, Vecchio Giuseppe, Li Yu-Teh, Li Su-Chen", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12374214", "url": "https://glygen.org/publication/PubMed/12374214" } ] }, { "title": "Interaction with factor associated with neutral sphingomyelinase activation, a WD motif-containing protein, identifies receptor for activated C-kinase 1 as a novel component of the signaling pathways of the p55 TNF receptor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Tcherkasowa AE, Adam-Klages S, Kruse ML, Wiegmann K, Mathieu S, Kolanus W, Kronke M, Adam D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626978", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626978" } ], "reference": [ { "type": "PubMed", "id": "12391233", "url": "https://glygen.org/publication/PubMed/12391233" } ] }, { "title": "Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B.", "journal": "Protein expression and purification", "date": "2003-01", "authors": "Ahn Victoria E, Faull Kym F, Whitelegge Julian P, Higginson Jason, Fluharty Arvan L, Priv\u00e9 Gilbert G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12510003", "url": "https://glygen.org/publication/PubMed/12510003" } ] }, { "title": "Crystal structure of saposin B reveals a dimeric shell for lipid binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Ahn VE, Faull KF, Whitelegge JP, Fluharty AL, Prive GG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12518053", "url": "https://glygen.org/publication/PubMed/12518053" } ] }, { "title": "Biochemical properties of mammalian neutral sphingomyelinase 2 and its role in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Marchesini N, Luberto C, Hannun YA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12566438", "url": "https://glygen.org/publication/PubMed/12566438" } ] }, { "title": "Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans.", "journal": "European journal of nutrition", "date": "2003", "authors": "Nemeth K, Plumb GW, Berrin JG, Juge N, Jacob R, Naim HY, Williamson G, Swallow DM, Kroon PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12594539", "url": "https://glygen.org/publication/PubMed/12594539" } ] }, { "title": "Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12662933", "url": "https://glygen.org/publication/PubMed/12662933" } ] }, { "title": "Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Duan RD, Bergman T, Xu N, Wu J, Cheng Y, Duan J, Nelander S, Palmberg C, Nilsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12885774", "url": "https://glygen.org/publication/PubMed/12885774" } ] }, { "title": "Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.", "journal": "Journal of inorganic biochemistry", "date": "2003", "authors": "Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "Structural analysis of lipid complexes of GM2-activator protein.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Wright CS, Zhao Q, Rastinejad F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12909021", "url": "https://glygen.org/publication/PubMed/12909021" } ] }, { "title": "In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting.", "journal": "The Journal of biological chemistry", "date": "1992-07-05", "authors": "Gieselmann V, Schmidt B, von Figura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1352293", "url": "https://glygen.org/publication/PubMed/1352293" } ] }, { "title": "Proteolytic processing of human lysosomal arylsulfatase A.", "journal": "Biochimica et biophysica acta", "date": "1992", "authors": "Fujii T, Kobayashi T, Honke K, Gasa S, Ishikawa M, Shimizu T, Makita A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "1352993", "url": "https://glygen.org/publication/PubMed/1352993" } ] }, { "title": "Hydrolysis of sphingosylphosphocholine by neutral sphingomyelinases.", "journal": "FEBS letters", "date": "2004", "authors": "Miura Y, Gotoh E, Nara F, Nishijima M, Hanada K", "evidence": [ { "database": "UniProtKB", "id": "O60906", "url": "https://www.uniprot.org/uniprot/O60906" } ], "reference": [ { "type": "PubMed", "id": "14741383", "url": "https://glygen.org/publication/PubMed/14741383" } ] }, { "title": "The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Garman SC, Garboczi DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15003450", "url": "https://glygen.org/publication/PubMed/15003450" } ] }, { "title": "Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Seyrantepe V, Landry K, Trudel S, Hassan JA, Morales CR, Pshezhetsky AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15213228", "url": "https://glygen.org/publication/PubMed/15213228" } ] }, { "title": "Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis.", "journal": "The Biochemical journal", "date": "2005", "authors": "Wu J, Hansen GH, Nilsson A, Duan RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15458386", "url": "https://glygen.org/publication/PubMed/15458386" } ] }, { "title": "Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.", "journal": "Human mutation", "date": "2005", "authors": "Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15714521", "url": "https://glygen.org/publication/PubMed/15714521" } ] }, { "title": "A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.", "journal": "Molecular genetics and metabolism", "date": "2005", "authors": "Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "15773042", "url": "https://glygen.org/publication/PubMed/15773042" } ] }, { "title": "Subcellular localization of human neutral ceramidase 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"Q04519-1", "O70572-1", "Q6ZPR5-1", "Q9JJY3-1", "D6MZJ6-1", "Q3TIW9-1", "Q1ZXD9-1", "Q9VZS6-1", "D6W4U0-1", "Q9VA77-1", "Q9VA78-1" ], "evidence": [ { "id": "19253", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19253" } ] }, { "id": "36087", "name": "", "equation": "1-O-hexadecyl-sn-glycero-3-phosphocholine + H2O = 1-O-hexadecyl-sn-glycerol + H(+) + phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ET64-1", "O60906-1", "O70572-1" ], "evidence": [ { "id": "36087", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36087" } ] }, { "id": "39923", "name": "", "equation": "1-O-octadecyl-sn-glycero-3-phosphocholine + H2O = 1-O-octadecyl-sn-glycerol + H(+) + phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35049-1", "Q9ET64-1", "O60906-1", "Q9NY59-1", "O70572-1", "Q9JJY3-1" ], "evidence": [ { "id": "39923", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39923" } ] }, { "id": "41119", "name": "", "equation": "1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = 1-hexadecanoyl-sn-glycerol + H(+) + phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B0BND0-1", "Q5EZ72-1", "O35049-1", "Q9ET64-1", "Q6UWR7-1", "Q6UWV6-1", "O60906-1", "Q9NY59-1", "Q8BGN3-1", "O70572-1", "Q9JJY3-1", "Q3TIW9-1" ], "evidence": [ { "id": "41119", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41119" } ] }, { "id": "45296", "name": "", "equation": "a sphingosylphosphocholine + H2O = a sphingoid base + H(+) + phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35049-1", "Q9ET64-1", "O60906-1", "Q9NY59-1", "O70572-1", "Q9JJY3-1" ], "evidence": [ { "id": "45296", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45296" } ] }, { "id": "45300", "name": "", "equation": "an N-(acyl)-sphingosylphosphocholine + H2O = an N-acyl-sphingoid base + H(+) + phosphocholine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O35049-1", "Q9ET64-1", "O60906-1", "Q9NY59-1", "O70572-1", "Q9JJY3-1" ], "evidence": [ { "id": "45300", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45300" } ] }, { "id": "R-HSA-1606273", "name": "SMPD2 and 3 hydrolyze sphingomyelin (plasma membrane)", "equation": "", "summary": "The mammalian brain-specific, Mg2+-dependent, neutral sphingomyelin phosphodiesterases 2 (Tomiuk et al. 1998, Hofmann et al. 2000) and 3 (Marchesini et al. 2003) (SMPD2 and 3) hydrolyse sphingomyelin (SPHM) to ceramide (CERA) at the plasma membrane.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [ "R-ALL-429776" ], "output_participant_list": [ "R-ALL-1610735" ], "enzyme_list": [ "O60906-1", "Q9NY59-1" ], "evidence": [ { "id": "R-HSA-1606273", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1606273" } ] }, { "id": "R-HSA-193672", "name": "Sphingomyelinase is activated by the NGF:p75NTR complex", "equation": "", "summary": "NGF binding to p75NTR activates N-SMase (Neutral sphingomyelinase), and possibly A-SMase (acid sphingomyelinase), an enzyme that converts sphingomyelin to ceramide. The mode and mechanism of interaction between p75 and N-SMase have not been determined but is thought to involve the recruitment of Mg2+ to the active site of the enzyme.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60906-1" ], "evidence": [ { "id": "R-HSA-193672", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193672" } ] }, { "id": "R-HSA-193706", "name": "Production of ceramide which can activate JNK and other targets", "equation": "", "summary": "Sphingomyielinase promotes the conversion of sphingomyelin to ceramide. Ceramide can activate JNK and other targets. The molecular details of the p75NTR-activated ceramide signalling cascade are only partially understood.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [ "R-ALL-194351" ], "output_participant_list": [ "R-ALL-194358" ], "enzyme_list": [ "O60906-1" ], "evidence": [ { "id": "R-HSA-193706", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193706" } ] }, { "id": "R-HSA-5626981", "name": "TNF-:TNFR1:NSMAF:GNB2L1 associates with SMPD2,3", "equation": "", "summary": "Sphingolipid signaling is initiated by neutral sphingomyelinase (neutral SMASE), a family of agonist-activated effector enzymes.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60906-1", "Q9NY59-1" ], "evidence": [ { "id": "R-HSA-5626981", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626981" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1610735", "participant_name": "ChoP [plasma membrane]", "crossref": [ { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "295975", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-194351", "participant_name": "SPHM [cytosol]", "crossref": [ { "id": "C00550", "database": "COMPOUND", "url": "" }, { "id": "17636", "database": "ChEBI", "url": "" }, { "id": "HMDB0012096", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0012089", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0012092", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0012089", "database": "HMDB Metabolite", "url": "" }, { "id": "17636", "database": "ChEBI", "url": "" }, { "id": "C00550", "database": "COMPOUND", "url": "" }, { "id": "HMDB0012096", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0012092", "database": "HMDB Metabolite", "url": "" } ] }, { "participant_id": "R-ALL-194358", "participant_name": "ChoP [cytosol]", "crossref": [ { "id": "18132", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "HMDB0001565", "database": "HMDB Metabolite", "url": "" }, { "id": "C00588", "database": "COMPOUND", "url": "" }, { "id": "18132", "database": "ChEBI", "url": "" }, { "id": "000001532692", "database": "ZINC", "url": "" }, { "id": "HMDB0001565", "database": "HMDB 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"activity": "", "evidence": [ { "id": "B0BND0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0BND0" } ] }, { "ec_number": "3.1.4.38", "activity": "", "evidence": [ { "id": "B0BND0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0BND0" } ] } ] }, { "uniprot_ac": "D6MZJ6", "gene_name": "Smpd5", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "D6MZJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D6MZJ6" } ] }, { "ec_number": "3.1.4.12", "activity": "", "evidence": [ { "id": "D6MZJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D6MZJ6" } ] } ] }, { "uniprot_ac": "D6W4U0", "gene_name": "CG3376-RA", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "D6W4U0", "database": "UniProtKB", "url": 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{ "id": "O35049", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35049" } ] } ] }, { "uniprot_ac": "O60906", "gene_name": "SMPD2", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "O60906", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60906" } ] }, { "ec_number": "3.1.4.12", "activity": "", "evidence": [ { "id": "O60906", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60906" } ] } ] }, { "uniprot_ac": "O70572", "gene_name": "Smpd2", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "O70572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70572" } ] }, { "ec_number": "3.1.4.12", "activity": "", "evidence": [ { "id": "O70572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70572" } ] } ] }, { "uniprot_ac": "P17405", "gene_name": "SMPD1", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "P17405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17405" } ] }, { "ec_number": "3.1.4.3", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1,2-diacyl-sn-glycerol + H(+) + phosphocholine.", "evidence": [ { "id": "P17405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17405" } ] }, { "ec_number": "3.1.4.12", "activity": "", "evidence": [ { "id": "P17405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17405" } ] }, { "ec_number": "3.1.4.3", "activity": "", "evidence": [ { "id": "P17405", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17405" } ] } ] }, { "uniprot_ac": "Q04519", "gene_name": "Smpd1", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "Q04519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04519" } ] }, { "ec_number": "3.1.4.3", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1,2-diacyl-sn-glycerol + H(+) + phosphocholine.", "evidence": [ { "id": "Q04519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04519" } ] }, { "ec_number": "3.1.4.12", "activity": "", "evidence": [ { "id": "Q04519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04519" } ] }, { "ec_number": "3.1.4.3", "activity": "", "evidence": [ { "id": "Q04519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04519" } ] } ] }, { "uniprot_ac": "Q1ZXD9", "gene_name": "", "activity": [ { "ec_number": "3.1.4.12", "activity": "a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine.", "evidence": [ { "id": "Q1ZXD9", "database": "UniProtKB", "url": 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