{ "uniprot_canonical_ac": "O94830-1", "uniprot_ac": "O94830", "uniprot_id": "DDHD2_HUMAN", "mass": { "chemical_mass": 81032.0, "monoisotopic_mass": 81032.0 }, "refseq": { "ac": "NP_001157704", "name": "phospholipase DDHD2 isoform 1", "summary": "This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" }, "gene_names": [ { "name": "DDHD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94830", "id": "O94830" }, { "name": "DDHD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704", "id": "NP_001157704" }, { "name": "KIAA0725", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94830", "id": "O94830" }, { "name": "SAMWD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94830", "id": "O94830" }, { "name": "iPLA(1)gamma; iPLA1A; iPLA1gamma; p125B; SAMWD1; SPG54", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704", "id": "NP_001157704" } ], "protein_names": [ { "name": "Phospholipase DDHD2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94830" }, { "name": "3.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94830" }, { "name": "DDHD domain-containing protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94830" }, { "name": "KIAA0725p", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94830" }, { "name": "SAM, WWE and DDHD domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94830" }, { "name": "phospholipase DDHD2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704", "id": "NP_001157704" }, { "name": "sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1; PA-PLA1 like; phospholipase DDHD2; SAM, WWE and DDHD domain-containing protein 1; intracellular phospholipase A1gamma", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704", "id": "NP_001157704" } ], "function": [ { "annotation": "Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.", "evidence": [ { "database": "RefSeq", "id": "NP_001157704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" }, { "database": "PubMed", "id": "37420318", "url": "https://glygen.org/publication/PubMed/37420318" } ] }, { "annotation": "Circular RNA circRUNX1 promotes papillary thyroid cancer progression and metastasis by sponging MiR-296-3p and regulating DDHD2 expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" }, { "database": "PubMed", "id": "33479208", "url": "https://glygen.org/publication/PubMed/33479208" } ] }, { "annotation": "Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" }, { "database": "PubMed", "id": "32747698", "url": "https://glygen.org/publication/PubMed/32747698" } ] }, { "annotation": "Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53.", "evidence": [ { "database": "RefSeq", "id": "NP_001157704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" }, { "database": "PubMed", "id": "19330026", "url": "https://glygen.org/publication/PubMed/19330026" } ] }, { "annotation": "Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.", "evidence": [ { "database": "RefSeq", "id": "NP_001157704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" }, { "database": "PubMed", "id": "33462483", "url": "https://glygen.org/publication/PubMed/33462483" } ] }, { "annotation": "Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830#function" }, { "database": "PubMed", "id": "22922100", "url": "https://glygen.org/publication/PubMed/22922100" }, { "database": "PubMed", "id": "20932832", "url": "https://glygen.org/publication/PubMed/20932832" }, { "database": "PubMed", "id": "11788596", "url": "https://glygen.org/publication/PubMed/11788596" } ] }, { "annotation": "This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001157704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157704" } ] } ], "disease": [ { "disease_id": "DOID:0110806", "recommended_name": { "id": "DOID:0110806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110806", "name": "hereditary spastic paraplegia 54", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11." }, "synonyms": [ { "id": "DOID:0110806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110806", "name": "SPG54", "description": "" }, { "id": "DOID:0110806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110806", "name": "autosomal recessive spastic paraplegia 54", "description": "" }, { "id": "DOID:0110806", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110806", "name": "autosomal recessive spastic paraplegia type 54", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "hereditary spastic paraplegia 54", "description": "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "DDHD2 autosomal recessive complex spastic paraplegia", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "SPG54", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "autosomal recessive spastic paraplegia 54", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "autosomal recessive spastic paraplegia type 54", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "hereditary spastic paraplegia type 54", "description": "" }, { "id": "MONDO:0014018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014018", "name": "spastic paraplegia 54, autosomal recessive", "description": "" }, { "id": "MIM:615033", "resource": "MIM", "url": "https://www.omim.org/entry/615033", "name": "Spastic paraplegia 54, autosomal recessive", "description": "Spastic paraplegia 54, autosomal recessive" } ], "evidence": [ { "id": "615033", "database": "MIM", "url": "https://www.omim.org/entry/615033" } ] } ], "snv": [ { "evidence": [ { "id": "O94830", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94830" } ], "glycoeffect": [], "start_pos": 242, "end_pos": 242, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "38242262", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R242", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O94830", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94830" } ], "glycoeffect": [], "start_pos": 658, "end_pos": 658, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "38253637", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R658", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O94830", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94830" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94830", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94830" } ], "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://www.uniprot.org/uniprot/E9PQY9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQY9-1", "url": "https://www.uniprot.org/uniprot/E9PQY9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YE64", "url": "https://www.uniprot.org/uniprot/H0YE64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YE64-1", "url": "https://www.uniprot.org/uniprot/H0YE64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF17", "url": "https://www.uniprot.org/uniprot/H0YF17", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF17-1", "url": "https://www.uniprot.org/uniprot/H0YF17-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF30", "url": "https://www.uniprot.org/uniprot/H0YF30", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF30-1", "url": "https://www.uniprot.org/uniprot/H0YF30-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94830", "url": 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"MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDDWGSTPTEQGRPRTVKRGVENISVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKDSLGDIDSEKDSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCTDRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDYLDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 711, "header": "sp|O94830-1|DDHD2_HUMAN Isoform 1 of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=2 CANONICAL=O94830-1" }, "isoforms": [ { "isoform_ac": "E9PIF5-1", "url": "", "sequence": { "sequence": "MDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKENLYK", "length": 142, "header": "tr|E9PIF5-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38240289, "end_pos": 38233085, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527415.5", "url": "https://www.ensembl.org/id/ENST00000527415.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432024.1", "url": "https://www.ensembl.org/id/ENSP00000432024.1" } ] } }, { "isoform_ac": "E9PK57-1", "url": "", "sequence": { "sequence": "MVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 162, "header": "tr|E9PK57-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38260118, "end_pos": 38252752, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529845.5", "url": "https://www.ensembl.org/id/ENST00000529845.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431638.1", "url": "https://www.ensembl.org/id/ENSP00000431638.1" } ] } }, { "isoform_ac": "E9PKE6-1", "url": "", "sequence": { "sequence": "MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDDWGSTPTEQGRPRTVKRGVENISVDIHCVNDFRSVSLNLLQTH", "length": 222, "header": "tr|E9PKE6-1|E9PKE6_HUMAN Computationally mapped isoform of DDHD domain containing 2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38242293, "end_pos": 38232995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532222.5", "url": "https://www.ensembl.org/id/ENST00000532222.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433578.1", "url": "https://www.ensembl.org/id/ENSP00000433578.1" } ] } }, { "isoform_ac": "E9PM60-1", "url": "", "sequence": { "sequence": "MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIIL", "length": 161, "header": "tr|E9PM60-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38237615, "end_pos": 38232995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528358.5", "url": "https://www.ensembl.org/id/ENST00000528358.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433118.1", "url": "https://www.ensembl.org/id/ENSP00000433118.1" } ] } }, { "isoform_ac": "E9PP45-1", "url": "", "sequence": { "sequence": "MRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKL", "length": 57, "header": "tr|E9PP45-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38237585, "end_pos": 38234462, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529642.1", "url": "https://www.ensembl.org/id/ENST00000529642.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436444.1", "url": "https://www.ensembl.org/id/ENSP00000436444.1" } ] } }, { "isoform_ac": "E9PPH8-1", "url": "", "sequence": { "sequence": "MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLE", "length": 137, "header": "tr|E9PPH8-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38234584, "end_pos": 38232995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533100.5", "url": "https://www.ensembl.org/id/ENST00000533100.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432678.1", "url": "https://www.ensembl.org/id/ENSP00000432678.1" } ] } }, { "isoform_ac": "E9PPN2-1", "url": "", "sequence": { "sequence": "MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGNLHACCNFG", "length": 83, "header": "tr|E9PPN2-1|E9PPN2_HUMAN Computationally mapped isoform of DDHD domain containing 2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38237566, "end_pos": 38232995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526237.5", "url": "https://www.ensembl.org/id/ENST00000526237.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436994.1", "url": "https://www.ensembl.org/id/ENSP00000436994.1" } ] } }, { "isoform_ac": "E9PQY9-1", "url": "", "sequence": { "sequence": "MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESP", "length": 156, "header": "tr|E9PQY9-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38237594, "end_pos": 38232995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527834.5", "url": "https://www.ensembl.org/id/ENST00000527834.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432433.1", "url": "https://www.ensembl.org/id/ENSP00000432433.1" } ] } }, { "isoform_ac": "H0YE64-1", "url": "", "sequence": { "sequence": "NTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 79, "header": "tr|H0YE64-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38260118, "end_pos": 38253561, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528613.1", "url": "https://www.ensembl.org/id/ENST00000528613.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435040.1", "url": "https://www.ensembl.org/id/ENSP00000435040.1" } ] } }, { "isoform_ac": "H0YF17-1", "url": "", "sequence": { "sequence": "XEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 213, "header": "tr|H0YF17-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38260119, "end_pos": 38252166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526144.1", "url": "https://www.ensembl.org/id/ENST00000526144.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000437029.1", "url": "https://www.ensembl.org/id/ENSP00000437029.1" } ] } }, { "isoform_ac": "H0YF30-1", "url": "", "sequence": { "sequence": "XEPLQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKDSLGDIDSEKGIKRPAPQPASGANI", "length": 183, "header": "tr|H0YF30-1|DDHD2_HUMAN Computationally mapped isoform of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=1 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38251956, "end_pos": 38240275, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532106.1", "url": "https://www.ensembl.org/id/ENST00000532106.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000437097.1", "url": "https://www.ensembl.org/id/ENSP00000437097.1" } ] } }, { "isoform_ac": "O94830-1", "url": "", "sequence": { "sequence": "MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDDWGSTPTEQGRPRTVKRGVENISVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKDSLGDIDSEKDSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCTDRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDYLDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 711, "header": "sp|O94830-1|DDHD2_HUMAN Isoform 1 of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=2 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38260118, "end_pos": 38232995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520272.6", "url": "https://www.ensembl.org/id/ENST00000520272.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000429932.2", "url": "https://www.ensembl.org/id/ENSP00000429932.2" } ] } }, { "isoform_ac": "O94830-2", "url": "", "sequence": { "sequence": "MDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCTDRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDYLDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 330, "header": "sp|O94830-2|DDHD2_HUMAN Isoform 2 of Phospholipase DDHD2 OS=Homo sapiens OX=9606 GN=DDHD2 PE=1 SV=2 CANONICAL=O94830-1" }, "locus": { "chromosome": "8", "start_pos": 38260118, "end_pos": 38247731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517385.5", "url": "https://www.ensembl.org/id/ENST00000517385.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429017.1", "url": "https://www.ensembl.org/id/ENSP00000429017.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 447, "end_pos": 447, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "site_lbl": "Ser447" }, { "start_pos": 593, "end_pos": 593, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94830", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94830" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ], "site_lbl": "Ser593" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Cloning and characterization of novel mouse and human secretory phospholipase A(2)s.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ishizaki J, Suzuki N, Higashino K, Yokota Y, Ono T, Kawamoto K, Fujii N, Arita H, Hanasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10455175", "url": "https://glygen.org/publication/PubMed/10455175" } ] }, { "title": "Isolation of a cDNA encoding human lysophosphatidic acid phosphatase that is involved in the regulation of mitochondrial lipid biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hiroyama M, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10506173", "url": "https://glygen.org/publication/PubMed/10506173" } ] }, { "title": "Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.", "journal": "Journal of lipid research", "date": "1999", "authors": "de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10553003", "url": "https://glygen.org/publication/PubMed/10553003" } ] }, { "title": "Structures, enzymatic properties, and expression of novel human and mouse secretory phospholipase A(2)s.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Suzuki N, Ishizaki J, Yokota Y, Higashino K, Ono T, Ikeda M, Fujii N, Kawamoto K, Hanasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10681567", "url": "https://glygen.org/publication/PubMed/10681567" } ] }, { "title": "Cloning and recombinant expression of a structurally novel human secreted phospholipase A2.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Gelb MH, Valentin E, Ghomashchi F, Lazdunski M, Lambeau G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "11031251", "url": "https://glygen.org/publication/PubMed/11031251" } ] }, { "title": "Cloning and recombinant expression of human group IIF-secreted phospholipase A(2).", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Valentin E, Singer AG, Ghomashchi F, Lazdunski M, Gelb MH, Lambeau G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "11112443", "url": "https://glygen.org/publication/PubMed/11112443" } ] }, { "title": "A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nakajima K, Sonoda H, Mizoguchi T, Aoki J, Arai H, Nagahama M, Tagaya M, Tani K", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" }, { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "11788596", "url": "https://glygen.org/publication/PubMed/11788596" } ] }, { "title": "Identification of a soluble form phospholipase A2 receptor as a circulating endogenous inhibitor for secretory phospholipase A2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Higashino Ki K, Yokota Y, Ono T, Kamitani S, Arita H, Hanasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "11830583", "url": "https://glygen.org/publication/PubMed/11830583" } ] }, { "title": "A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, Nagai Y, Taguchi R, Inoue K, Arai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "12063250", "url": "https://glygen.org/publication/PubMed/12063250" } ] }, { "title": "Crystal structure of human group X secreted phospholipase A2. Electrostatically neutral interfacial surface targets zwitterionic membranes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Pan YH, Yu BZ, Singer AG, Ghomashchi F, Lambeau G, Gelb MH, Jain MK, Bahnson BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "12161451", "url": "https://glygen.org/publication/PubMed/12161451" } ] }, { "title": "Interfacial kinetic and binding properties of the complete set of human and mouse groups I, II, V, X, and XII secreted phospholipases A2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Singer AG, Ghomashchi F, Le Calvez C, Bollinger J, Bezzine S, Rouault M, Sadilek M, Nguyen E, Lazdunski M, Lambeau G, Gelb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "12359733", "url": "https://glygen.org/publication/PubMed/12359733" } ] }, { "title": "Cellular arachidonate-releasing function of novel classes of secretory phospholipase A2s (groups III and XII).", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Murakami M, Masuda S, Shimbara S, Bezzine S, Lazdunski M, Lambeau G, Gelb MH, Matsukura S, Kokubu F, Adachi M, Kudo I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "12522102", "url": "https://glygen.org/publication/PubMed/12522102" } ] }, { "title": "Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hiramatsu T, Sonoda H, Takanezawa Y, Morikawa R, Ishida M, Kasahara K, Sanai Y, Taguchi R, Aoki J, Arai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "12963729", "url": "https://glygen.org/publication/PubMed/12963729" } ] }, { "title": "Phospholipid scramblase 3 controls mitochondrial structure, function, and apoptotic response.", "journal": "Molecular cancer research : MCR", "date": "2003", "authors": "Liu J, Dai Q, Chen J, Durrant D, Freeman A, Liu T, Grossman D, Lee RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "14573790", "url": "https://glygen.org/publication/PubMed/14573790" } ] }, { "title": "Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPARalpha in murine heart.", "journal": "The Biochemical journal", "date": "2005", "authors": "Lu B, Jiang YJ, Zhou Y, Xu FY, Hatch GM, Choy PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "15367102", "url": "https://glygen.org/publication/PubMed/15367102" } ] }, { "title": "p125 is localized in endoplasmic reticulum exit sites and involved in their organization.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Shimoi W, Ezawa I, Nakamoto K, Uesaki S, Gabreski G, Aridor M, Yamamoto A, Nagahama M, Tagaya M, Tani K", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "reference": [ { "type": "PubMed", "id": "15623529", "url": "https://glygen.org/publication/PubMed/15623529" } ] }, { "title": "Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1).", "journal": "Journal of molecular biology", "date": "2006", "authors": "Ou X, Ji C, Han X, Zhao X, Li X, Mao Y, Wong LL, Bartlam M, Rao Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "16460752", "url": "https://glygen.org/publication/PubMed/16460752" } ] }, { "title": "A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Gale SE, Frolov A, Han X, Bickel PE, Cao L, Bowcock A, Schaffer JE, Ory DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "16495223", "url": "https://glygen.org/publication/PubMed/16495223" } ] }, { "title": "Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: cloning, tissue distribution, gene structure, and enzymatic activity.", "journal": "Archives of biochemistry and biophysics", "date": "2006", "authors": "Agarwal AK, Barnes RI, Garg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "16620771", "url": "https://glygen.org/publication/PubMed/16620771" } ] }, { "title": "Cloning and characterization of mouse lung-type acyl-CoA:lysophosphatidylcholine acyltransferase 1 (LPCAT1). 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"title": "Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells.", "journal": "DNA and cell biology", "date": "1997", "authors": "West J, Tompkins CK, Balantac N, Nudelman E, Meengs B, White T, Bursten S, Coleman J, Kumar A, Singer JW, Leung DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "9212163", "url": "https://glygen.org/publication/PubMed/9212163" } ] }, { "title": "Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Aguado B, Campbell RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "9461603", "url": "https://glygen.org/publication/PubMed/9461603" } ] }, { "title": "Cloning and initial characterization of a human phospholipase D2 (hPLD2). ADP-ribosylation factor regulates hPLD2.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lopez I, Arnold RS, Lambeth JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "9582313", "url": "https://glygen.org/publication/PubMed/9582313" } ] } ], "pathway": [ { "id": "hsa:23259", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23259", "resource": "KEGG Pathway" }, { "id": "R-HSA-1483166", "name": "Synthesis of PA", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166", "resource": "Reactome", "description": "Synthesis of PA" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AUM0-1", "protein_name": "DDHD domain containing 2", "gene_name": "Ddhd2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSGESYQEQLSQSDPSPSPNSSSSFELLDMDVGSSYEPVSPHWFYCKVIDSKELWIPFNSEDSQQLEEAHGSGKDCNERVVPTDGGRYDVHLGERMRYAVYWDELPSEVRRCTWFYKGDKDNKYVPYSESFSQVLEDTYMLAVTLDEWKKKLESPNREIIVLHNPKLMVHYQPITGSDEWGSTSTEQGRPRSVKRGVESIPVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDIDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKDSIGDIDSEKGSLSTAEDLGDVSTLEEELKKLQLSEFVTVFEKEKVDREALALCTDRDLQEMGIPLGPRKKILNHFSATKSSVGINRPTMSASEVNIPKEKGDYLDVGIGQVSVKYPRLNYKPEIFFAFGSPIGMFLTVRGLRRIDPNYKFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASEMAEDTEAESEPSSEKPSDANTEEPPVEVKEEAPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ", "length": 699 }, "evidence": [ { "id": "45922076", "url": "http://www.informatics.jax.org/homology/45922076", "database": "MGI" }, { "id": "O94830", "url": "https://omabrowser.org/oma/group/O94830/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80Y98-1", "protein_name": "Phospholipase DDHD2", "gene_name": "Ddhd2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSGESHQEQLSQSDPSPSPNSCSSFELIDMDASSSYEPVSPHWFYCKVLDSKELWIPFNSEDSQQLEDAYGSGKDCNERIVPTDGGRYDVHLGERMRYAVYWDELPSEVRRCTWFYKGDKDNKYVPYSESFSQVLEDTYMLAVTLDEWKKKIESPNREIIVLHNPKLMVHYQPIAGSDEWGSTSTEQGRPRSVKRGVENIPVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENEQIGRVEFLPVNWHSPLHSTGVDIDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKNSIGDIDSEKGSLSSAEDRGDASTLEEDLKKLQLSEFVTVFEKEKVDREALALCTDRDLQEMGIPLGPRKKILNHFSARKNSVSINRPAMSASEVNISKENGDYLDVGIGQVSVKYPRLNYKPEIFFAFGSPIGMFLTVRGLRRIDPNYKFPTCKGFFNIYHPFDPVAYRIEPMVAPGIEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRGPYPALQASETAEETEAEPESSSEKSNEANTEEPPVEVKEEAPISVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGVFLDQPLQ", "length": 699 }, "evidence": [ { "id": "45922076", "url": "http://www.informatics.jax.org/homology/45922076", "database": "MGI" }, { "id": "O94830", "url": "https://omabrowser.org/oma/group/O94830/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "triglyceride lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "O94830", "url": "https://www.uniprot.org/uniprot/O94830" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 200, "end_pos": 202, "annotation": "n_glycosylation_sequon" }, { "start_pos": 301, "end_pos": 303, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "38783", "name": "", "equation": "1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H(+) + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P53817-1", "Q675A5-1", "Q9UL19-1", "Q9NWW9-1", "P53816-1", "O94830-1", "Q68DD2-1", "Q8NCC3-1", "Q8R3U1-1", "Q8VEB4-1", "Q50L41-1", "Q80Y98-1" ], "evidence": [ { "id": "38783", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38783" } ] }, { "id": "40943", "name": "", "equation": "1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q32PY2-1", "O94830-1", "Q6XZB0-1", "Q8WWY8-1", "Q8NEL9-1", "Q80Y98-1", "Q8CIV3-1", "Q80YA3-1" ], "evidence": [ { "id": "40943", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40943" } ] }, { "id": "43968", "name": "", "equation": "1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H(+) + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94830-1", "Q8NEL9-1", "Q80Y98-1", "Q80YA3-1" ], "evidence": [ { "id": "43968", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43968" } ] }, { "id": "45128", "name": "", "equation": "1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = (9Z)-octadecenoate + 2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94830-1", "Q8NEL9-1", "Q80Y98-1", "Q80YA3-1" ], "evidence": [ { "id": "45128", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45128" } ] }, { "id": "45132", "name": "", "equation": "1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H(+) + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O94830-1", "Q80Y98-1" ], "evidence": [ { "id": "45132", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45132" } ] }, { "id": "R-HSA-6786650", "name": "DDHD1,2 hydrolyse PA", "equation": "", "summary": "Glycerophospholipids are important structural and functional components of biological membranes, of serum lipoproteins and pulmonary surfactant and act as precursors of lipid mediators such as platelet-activating factor and eicosanoids. Phosphatidic acid (PA) is a common glycerophospholipid and its hydrolysis can mediate its functions described above. Phospholipases DDHD1 and 2 can mediate the hydrolysis of PA (Inoue et al. 2012, Nakajima et al. 2002). Defects in DDHD1 or DDHD2 can cause autosomal recessive spastic paraplegias 28 or 54 respectively (SPG28, MIM:609340; SPG54, MIM:615033). These are forms of neurodegenerative spastic paraplegia, characterised by slow, gradual, progressive weakness and spasticity of the lower limbs (Tesson et al. 2012, Schuurs-Hoeijmakers et al. 2012).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8NEL9-1", "O94830-1" ], "evidence": [ { "id": "R-HSA-6786650", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6786650" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O94830", "gene_name": "DDHD2", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "O94830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94830" } ] } ] }, { "uniprot_ac": "P53816", "gene_name": "PLAAT3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P53816", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53816" } ] } ] }, { "uniprot_ac": "P53817", "gene_name": "Plaat3", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "P53817", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53817" } ] } ] }, { "uniprot_ac": "Q32PY2", "gene_name": "Liph", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q32PY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q32PY2" } ] } ] }, { "uniprot_ac": "Q50L41", "gene_name": "Pla2g4f", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q50L41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q50L41" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q50L41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q50L41" } ] } ] }, { "uniprot_ac": "Q675A5", "gene_name": "Pla2g15", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q675A5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q675A5" } ] } ] }, { "uniprot_ac": "Q68DD2", "gene_name": "PLA2G4F", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q68DD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68DD2" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q68DD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68DD2" } ] } ] }, { "uniprot_ac": "Q6XZB0", "gene_name": "LIPI", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q6XZB0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XZB0" } ] } ] }, { "uniprot_ac": "Q80Y98", "gene_name": "Ddhd2", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q80Y98", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80Y98" } ] } ] }, { "uniprot_ac": "Q80YA3", "gene_name": "Ddhd1", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.111", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-L-serine + H2O = a 2-acyl-sn-glycero-3-phospho-L-serine + a fatty acid + H(+).", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.118", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = a 2-acyl-sn-glycero-3-phospho-D-myo-inositol + a fatty acid + H(+).", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.111", "activity": "", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] }, { "ec_number": "3.1.1.32", "activity": "", "evidence": [ { "id": "Q80YA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80YA3" } ] } ] }, { "uniprot_ac": "Q8CIV3", "gene_name": "Liph", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q8CIV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CIV3" } ] } ] }, { "uniprot_ac": "Q8NCC3", "gene_name": "PLA2G15", "activity": [ { "ec_number": "3.1.1.32", "activity": "a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { "ec_number": "3.1.1.4", "activity": "", "evidence": [ { "id": "Q8NCC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NCC3" } ] }, { 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