{ "uniprot_canonical_ac": "Q15738-1", "uniprot_ac": "Q15738", "uniprot_id": "NSDHL_HUMAN", "mass": { "chemical_mass": 41900.0, "monoisotopic_mass": 41900.0 }, "refseq": { "ac": "NP_001123237", "name": "sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "summary": "The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" }, "gene_names": [ { "name": "NSDHL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q15738", "id": "Q15738" }, { "name": "H105E3; SDR31E1; XAP104", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237", "id": "NP_001123237" }, { "name": "H105E3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q15738", "id": "Q15738" }, { "name": "NSDHL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237", "id": "NP_001123237" } ], "protein_names": [ { "name": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q15738" }, { "name": "1.1.1.170", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q15738" }, { "name": "Protein H105e3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q15738" }, { "name": "short chain dehydrogenase/reductase family 31E, member 1; protein H105e3; epididymis secretory sperm binding protein; NAD(P) dependent steroid dehydrogenase-like protein transcript", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237", "id": "NP_001123237" }, { "name": "sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237", "id": "NP_001123237" } ], "function": [ { "annotation": "CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" }, { "database": "PubMed", "id": "33169834", "url": "https://glygen.org/publication/PubMed/33169834" } ] }, { "annotation": "Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738#function" }, { "database": "UniProtKB", "id": "Q9R1J0", "url": "https://www.uniprot.org/uniprot/Q9R1J0#function" } ] }, { "annotation": "NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" }, { "database": "PubMed", "id": "32366230", "url": "https://glygen.org/publication/PubMed/32366230" } ] }, { "annotation": "NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" }, { "database": "PubMed", "id": "33219617", "url": "https://glygen.org/publication/PubMed/33219617" } ] }, { "annotation": "NSDHL promotes triple-negative breast cancer metastasis through the TGFbeta signaling pathway and cholesterol biosynthesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" }, { "database": "PubMed", "id": "33864166", "url": "https://glygen.org/publication/PubMed/33864166" } ] }, { "annotation": "The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" } ] } ], "disease": [ { "disease_id": "DOID:0111822", "recommended_name": { "id": "DOID:0111822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111822", "name": "CHILD syndrome", "description": "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28." }, "synonyms": [ { "id": "DOID:0111822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111822", "name": "CHILD nevus", "description": "" }, { "id": "DOID:0111822", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111822", "name": "congenital hemidysplasia with ichthyosiform nevus and limbs defects", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "CHILD syndrome", "description": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "CHILD syndrome", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "CHILD syndrome, X-linked dominant", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "child nevus", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "child syndrome", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "congenital hemidysplasia with ichthyosiform nevus and limbs defects", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "congenital hemidysplasia with ichthyosiform nevus and limb defects", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs", "description": "" }, { "id": "MONDO:0010621", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010621", "name": "ichthyosis, child syndrome", "description": "" }, { "id": "MIM:308050", "resource": "MIM", "url": "https://www.omim.org/entry/308050", "name": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "description": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects" } ], "evidence": [ { "id": "308050", "database": "MIM", "url": "https://www.omim.org/entry/308050" } ] }, { "disease_id": "DOID:0111898", "recommended_name": { "id": "DOID:0111898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111898", "name": "CK syndrome", "description": "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28." }, "synonyms": [ { "id": "DOID:0111898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111898", "name": "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome", "description": "" }, { "id": "MONDO:0010441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010441", "name": "CK syndrome", "description": "" }, { "id": "MONDO:0010441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010441", "name": "CK syndrome", "description": "" }, { "id": "MONDO:0010441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010441", "name": "CK syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010441", "name": "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome", "description": "" }, { "id": "MONDO:0010441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010441", "name": "intellectual disability, X-linked, with thin body habitus and cortical malformation", "description": "" }, { "id": "MONDO:0010441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010441", "name": "mental retardation, X-linked, with thin body habitus and cortical malformation", "description": "" }, { "id": "MIM:300831", "resource": "MIM", "url": "https://www.omim.org/entry/300831", "name": "CK syndrome", "description": "CK syndrome" } ], "evidence": [ { "id": "300831", "database": "MIM", "url": "https://www.omim.org/entry/300831" } ] } ], "snv": [ { "evidence": [ { "id": "Q15738", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q15738" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "152867633", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A250", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID: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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q15738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15738" } ], "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": "" }, { 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQL", "length": 254, "header": "tr|C9JDR0-1|C9JDR0_HUMAN Computationally mapped isoform of NAD(P) dependent steroid dehydrogenase-like OS=Homo sapiens OX=9606 GN=NSDHL PE=1 SV=1 CANONICAL=Q15738-1" }, "locus": { "chromosome": "X", "start_pos": 152867646, "end_pos": 152846325, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432467.1", "url": "https://www.ensembl.org/id/ENST00000432467.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000396266.1", "url": "https://www.ensembl.org/id/ENSP00000396266.1" } ] } }, { "isoform_ac": "Q15738-1", "url": "", "sequence": { "sequence": "MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK", "length": 373, "header": "sp|Q15738-1|NSDHL_HUMAN Isoform 1 of Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating OS=Homo sapiens OX=9606 GN=NSDHL PE=1 SV=2 CANONICAL=Q15738-1" }, "locus": { "chromosome": "X", "start_pos": 152869113, "end_pos": 152846325, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370274.8", "url": "https://www.ensembl.org/id/ENST00000370274.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000359297.3", "url": "https://www.ensembl.org/id/ENSP00000359297.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q15738", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15738" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15738" } ], "site_lbl": "Thr22" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human geranylgeranyl diphosphate synthase. cDNA cloning and expression.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kuzuguchi T, Morita Y, Sagami I, Sagami H, Ogura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "10026212", "url": "https://glygen.org/publication/PubMed/10026212" } ] }, { "title": "Alendronate is a specific, nanomolar inhibitor of farnesyl diphosphate synthase.", "journal": "Archives of biochemistry and biophysics", "date": "2000", "authors": "Bergstrom JD, Bostedor RG, Masarachia PJ, Reszka AA, Rodan G", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "10620343", "url": "https://glygen.org/publication/PubMed/10620343" } ] }, { "title": "Cloning, heterologous expression, and enzymological characterization of human squalene monooxygenase.", "journal": "Archives of biochemistry and biophysics", "date": "2000", "authors": "Laden BP, Tang Y, Porter TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "10666321", "url": "https://glygen.org/publication/PubMed/10666321" } ] }, { "title": "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.", "journal": "Am. J. Med. Genet.", "date": "2000", "authors": "Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "10710235", "url": "https://glygen.org/publication/PubMed/10710235" } ] }, { "title": "Comparative genome sequence analysis of the Bpa/Str region in mouse and man.", "journal": "Genome Res.", "date": "2000", "authors": "Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN, Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A, Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M, Denny P, Rosenthal A, Brown SD", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "10854409", "url": "https://glygen.org/publication/PubMed/10854409" } ] }, { "title": "Crystal structure of human squalene synthase. A key enzyme in cholesterol biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Pandit J, Danley DE, Schulte GK, Mazzalupo S, Pauly TA, Hayward CM, Hamanaka ES, Thompson JF, Harwood HJ Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "10896663", "url": "https://glygen.org/publication/PubMed/10896663" } ] }, { "title": "Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Tinkelenberg AH, Liu Y, Alcantara F, Khan S, Guo Z, Bard M, Sturley SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "11063737", "url": "https://glygen.org/publication/PubMed/11063737" } ] }, { "title": "Structure-activity relationships for inhibition of farnesyl diphosphate synthase in vitro and inhibition of bone resorption in vivo by nitrogen-containing bisphosphonates.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2001", "authors": "Dunford JE, Thompson K, Coxon FP, Luckman SP, Hahn FM, Poulter CD, Ebetino FH, Rogers MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "11160603", "url": "https://glygen.org/publication/PubMed/11160603" } ] }, { "title": "A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.", "journal": "J. Am. Acad. Dermatol.", "date": "2002", "authors": "Konig A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "11907515", "url": "https://glygen.org/publication/PubMed/11907515" } ] }, { "title": "Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Swain E, Stukey J, McDonough V, Germann M, Liu Y, Sturley SL, Nickels JT Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "12145310", "url": "https://glygen.org/publication/PubMed/12145310" } ] }, { "title": "Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.", "journal": "American journal of human genetics", "date": "2003", "authors": "Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "12618959", "url": "https://glygen.org/publication/PubMed/12618959" } ] }, { "title": "Closing the gap: identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Marijanovic Z, Laubner D, Moller G, Gege C, Husen B, Adamski J, Breitling R", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "12829805", "url": "https://glygen.org/publication/PubMed/12829805" } ] }, { "title": "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "1377680", "url": "https://glygen.org/publication/PubMed/1377680" } ] }, { "title": "Preputial gland tumor sterols. 3. A metabolic pathway from lanosterol to cholesterol.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "KANDUTSCH AA, RUSSELL AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "14404284", "url": "https://glygen.org/publication/PubMed/14404284" } ] }, { "title": "NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.", "journal": "Human molecular genetics", "date": "2003", "authors": "Caldas H, Herman GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "14506130", "url": "https://glygen.org/publication/PubMed/14506130" } ] }, { "title": "Phosphomevalonate kinase is a cytosolic protein in humans.", "journal": "Journal of lipid research", "date": "2004", "authors": "Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "14729858", "url": "https://glygen.org/publication/PubMed/14729858" } ] }, { "title": "Mevalonate kinase is a cytosolic enzyme in humans.", "journal": "Journal of cell science", "date": "2004", "authors": "Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "14730012", "url": "https://glygen.org/publication/PubMed/14730012" } ] }, { "title": "Identification and functional characterization of a presqualene diphosphate phosphatase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Fukunaga K, Arita M, Takahashi M, Morris AJ, Pfeffer M, Levy BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "16464866", "url": "https://glygen.org/publication/PubMed/16464866" } ] }, { "title": "Phosphomevalonate kinase: functional investigation of the recombinant human enzyme.", "journal": "Biochemistry", "date": "2006", "authors": "Herdendorf TJ, Miziorko HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "16519518", "url": "https://glygen.org/publication/PubMed/16519518" } ] }, { "title": "The molecular mechanism of nitrogen-containing bisphosphonates as antiosteoporosis drugs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Kavanagh KL, Guo K, Dunford JE, Wu X, Knapp S, Ebetino FH, Rogers MJ, Russell RG, Oppermann U", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "16684881", "url": "https://glygen.org/publication/PubMed/16684881" } ] }, { "title": "Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Bennati AM, Castelli M, Della Fazia MA, Beccari T, Caruso D, Servillo G, Roberti R", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "16784888", "url": "https://glygen.org/publication/PubMed/16784888" } ] }, { "title": "Structure-activity relationships among the nitrogen containing bisphosphonates in clinical use and other analogues: time-dependent inhibition of human farnesyl pyrophosphate synthase.", "journal": "Journal of medicinal chemistry", "date": "2008", "authors": "Dunford JE, Kwaasi AA, Rogers MJ, Barnett BL, Ebetino FH, Russell RG, Oppermann U, Kavanagh KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "18327899", "url": "https://glygen.org/publication/PubMed/18327899" } ] }, { "title": "Design, synthesis, and biological evaluation of novel aminobisphosphonates possessing an in vivo antitumor activity through a gammadelta-T lymphocytes-mediated activation mechanism.", "journal": "Journal of medicinal chemistry", "date": "2008", "authors": "Simoni D, Gebbia N, Invidiata FP, Eleopra M, Marchetti P, Rondanin R, Baruchello R, Provera S, Marchioro C, Tolomeo M, Marinelli L, Limongelli V, Novellino E, Kwaasi A, Dunford J, Buccheri S, Caccamo N, Dieli F", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "18937434", "url": "https://glygen.org/publication/PubMed/18937434" } ] }, { "title": "Synthesis, chiral high performance liquid chromatographic resolution and enantiospecific activity of a potent new geranylgeranyl transferase inhibitor, 2-hydroxy-3-imidazo[1,2-a]pyridin-3-yl-2-phosphonopropionic acid.", "journal": "Journal of medicinal chemistry", "date": "2010", "authors": "McKenna CE, Kashemirov BA, Blazewska KM, Mallard-Favier I, Stewart CA, Rojas J, Lundy MW, Ebetino FH, Baron RA, Dunford JE, Kirsten ML, Seabra MC, Bala JL, Marma MS, Rogers MJ, Coxon FP", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "20394422", "url": "https://glygen.org/publication/PubMed/20394422" } ] }, { "title": "Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2010", "authors": "McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "21129721", "url": "https://glygen.org/publication/PubMed/21129721" } ] }, { "title": "Correlation between time-dependent inhibition of human farnesyl pyrophosphate synthase and blockade of mevalonate pathway by nitrogen-containing bisphosphonates in cultured cells.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Raikkonen J, Taskinen M, Dunford JE, Monkkonen H, Auriola S, Monkkonen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "21420384", "url": "https://glygen.org/publication/PubMed/21420384" } ] }, { "title": "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.", "journal": "Mol. Cell. Proteomics", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "C9JDR0", "url": "https://www.uniprot.org/uniprot/C9JDR0" }, { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Promoter analysis of the DHCR24 (3beta-hydroxysterol Delta(24)-reductase) gene: characterization of SREBP (sterol-regulatory-element-binding protein)-mediated activation.", "journal": "Bioscience reports", "date": "2012", "authors": "Daimiel LA, Fernandez-Suarez ME, Rodriguez-Acebes S, Crespo L, Lasuncion MA, Gomez-Coronado D, Martinez-Botas J", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "23050906", "url": "https://glygen.org/publication/PubMed/23050906" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" }, { "database": "iPTMnet", "id": "Q15738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15738" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15738", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15738" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.", "journal": "Cell. Mol. Life Sci.", "date": "2021", "authors": "Kim H.S., Lee K.Y., Lee J.Y., Kim D., Lee S.J., Choi Y., Kim D.G., Park S.J., Yoon H.J., Lee H.H., Cho S., Chung S.J., Lee B.J., Lee J.Y.', Jung K.Y., Lim H.J., Oh Y.K., Baek M., Cheon S.H., Jeong Y.S., Koh C.H., Koo J.S., Shin K.S.", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "32140747", "url": "https://glygen.org/publication/PubMed/32140747" } ] }, { "title": "NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.", "journal": "BMC cancer", "date": "2020", "authors": "Yoon SH, Kim HS, Kim RN, Jung SY, Hong BS, Kang EJ, Lee HB, Moon HG, Noh DY, Han W", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" } ], "reference": [ { "type": "PubMed", "id": "32366230", "url": "https://glygen.org/publication/PubMed/32366230" } ] }, { "title": "CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.", "journal": "International journal of dermatology", "date": "2021", "authors": "Tang MM, Tan WC, Surana U, Leong KF, Pramano ZAD", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" } ], "reference": [ { "type": "PubMed", "id": "33169834", "url": "https://glygen.org/publication/PubMed/33169834" } ] }, { "title": "NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.", "journal": "Journal of clinical laboratory analysis", "date": "2021", "authors": "Xiao Y, Xie J, Liu L, Huang W, Han Q, Qin J, Liu S, Jiang Z", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" } ], "reference": [ { "type": "PubMed", "id": "33219617", "url": "https://glygen.org/publication/PubMed/33219617" } ] }, { "title": "Structure, catalysis, and inhibition mechanism of prenyltransferase.", "journal": "IUBMB life", "date": "2021", "authors": "Chang HY, Cheng TH, Wang AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "33246356", "url": "https://glygen.org/publication/PubMed/33246356" } ] }, { "title": "NSDHL promotes triple-negative breast cancer metastasis through the TGFbeta signaling pathway and cholesterol biosynthesis.", "journal": "Breast cancer research and treatment", "date": "2021", "authors": "Chen M, Zhao Y, Yang X, Zhao Y, Liu Q, Liu Y, Hou Y, Sun H, Jin W", "evidence": [ { "database": "RefSeq", "id": "NP_001123237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123237" } ], "reference": [ { "type": "PubMed", "id": "33864166", "url": "https://glygen.org/publication/PubMed/33864166" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15738", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15738" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Enzymic conversion of squalene 2,3-oxide to lanosterol and cholesterol.", "journal": "Journal of the American Chemical Society", "date": "1966", "authors": "Van Tamelen EE, Willett JD, Clayton RB, Lord KE", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "5918048", "url": "https://glygen.org/publication/PubMed/5918048" } ] }, { "title": "Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Song XQ, Fukao T, Yamaguchi S, Miyazawa S, Hashimoto T, Orii T", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "7911016", "url": "https://glygen.org/publication/PubMed/7911016" } ] }, { "title": "Human cytoplasmic 3-hydroxy-3-methylglutaryl coenzyme A synthase: expression, purification, and characterization of recombinant wild-type and Cys129 mutant enzymes.", "journal": "Archives of biochemistry and biophysics", "date": "1994", "authors": "Rokosz LL, Boulton DA, Butkiewicz EA, Sanyal G, Cueto MA, Lachance PA, Hermes JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "7913309", "url": "https://glygen.org/publication/PubMed/7913309" } ] }, { "title": "Molecular cloning of cDNA encoding human lanosterol synthase.", "journal": "Biological & pharmaceutical bulletin", "date": "1995", "authors": "Sung CK, Shibuya M, Sankawa U, Ebizuka Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": "PubMed", "id": "8593458", "url": "https://glygen.org/publication/PubMed/8593458" } ] }, { "title": "Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Toth MJ, Huwyler L", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191273" } ], "reference": [ { "type": 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"https://glygen.org/publication/PubMed/8806705" } ] }, { "title": "A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.", "journal": "Genome Res.", "date": "1996", "authors": "Lee C.C., Worley K.C., Chatterjee A., Herman G.E., Levin M.L., Zhuchenko O., Wehnert M., Pragliola A., Smith R.F.", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "reference": [ { "type": "PubMed", "id": "8828036", "url": "https://glygen.org/publication/PubMed/8828036" } ] }, { "title": "Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.", "journal": "Pediatric research", "date": "1997", "authors": "Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-191273", "url": 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{ "sequence": "MEQAVRSESKKGQVTGTDLINEVSKAKKCTVIGGSGFLGQHMVEQLLSRGYAVNVFDVRQGFDNPRVQFFIGDLCNQQDLYPALKGVSTVFHCASPPSNSNNKELFYRVNSTGTKTVIETCKEAGVQKLILTSSASVVFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLDANDPKKNFLTAAIRPHGIFGPRDPQLVPVLIDAARKGKMKFMIGNGKNLVDFTFVENVVHGHILAAEHLSRDAGLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYRVAYYLAFLLSLLVMVLSPLIQIQTTFTPFRVALAGTFHYYSCEKAKKLIGYRPLVTMDDAVERTVQSFHHLRKDK", "length": 362 }, "evidence": [ { "id": "45236642", "url": "http://www.informatics.jax.org/homology/45236642", "database": "MGI" }, { "id": "Q15738", "url": "https://omabrowser.org/oma/group/Q15738/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9R1J0-1", "protein_name": "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating", "gene_name": "Nsdhl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEQAVHGESKRGQVTGTHLTNDISKAKKCTVIGGSGFLGQHMVEQLLERGYTVNVFDIHQGFDNPRVQFFIGDLCNQQDLYPALKGVSTVFHCASPPPYSNNKELFYRVNFIGTKTVIETCREAGVQKLILTSSASVVFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLDANDPKKNFLTAAIRPHGIFGPRDPQLVPILIDAARKGKMKFMIGNGENLVDFTFVENVVHGHILAAEHLSQDAALGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWMAYYLAFLLSLLVMVVSPLIQIQPTFTPIRVALAGTFHYYSCEKAKKLFGYRPLVTMDEAVERTVQSFHHLRKDK", "length": 362 }, "evidence": [ { "id": "45236642", "url": "http://www.informatics.jax.org/homology/45236642", "database": "MGI" }, { "id": "Q15738", "url": "https://omabrowser.org/oma/group/Q15738/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": 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development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "3-beta-hydroxy-delta5-steroid dehydrogenase activity", "id": "GO:0003854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003854", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity", "id": "GO:0000252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000252", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity", "id": "GO:0047012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047012", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity", "id": "GO:0103066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0103066", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity", "id": "GO:0103067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0103067", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" }, { "name": "3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity", "id": "GO:0102175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102175", "evidence": [ { "database": "UniProtKB", "id": "Q15738", "url": "https://www.uniprot.org/uniprot/Q15738" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 157, "end_pos": 159, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "33447", "name": "", "equation": "4beta-methylzymosterol-4alpha-carboxylate + NADP(+) = 3-dehydro-4-methylzymosterol + CO2 + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1", "P53199-1" ], "evidence": [ { "id": "33447", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33447" } ] }, { "id": "33455", "name": "", "equation": "4alpha-carboxyzymosterol + NADP(+) = CO2 + NADPH + zymosterone", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "33455", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33455" } ] }, { "id": "34771", "name": "", "equation": "a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1", "Q54L85-1" ], "evidence": [ { "id": "34771", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34771" } ] }, { "id": "34775", "name": "", "equation": "a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1", "Q54L85-1" ], "evidence": [ { "id": "34775", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34775" } ] }, { "id": "46828", "name": "", "equation": "4alpha-carboxy-4beta-methyl-5alpha-cholest-8-en-3beta-ol + NADP(+) = 4alpha-methyl-5alpha-cholest-8-en-3-one + CO2 + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "46828", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46828" } ] }, { "id": "46848", "name": "", "equation": "4alpha-carboxy-5alpha-cholest-8-ene-3beta-ol + NADP(+) = 5alpha-cholest-8-en-3-one + CO2 + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "46848", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46848" } ] }, { "id": "47160", "name": "", "equation": "4beta-methylzymosterol-4alpha-carboxylate + NAD(+) = 3-dehydro-4-methylzymosterol + CO2 + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "47160", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47160" } ] }, { "id": "47164", "name": "", "equation": "4alpha-carboxyzymosterol + NAD(+) = CO2 + NADH + zymosterone", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "47164", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47164" } ] }, { "id": "47168", "name": "", "equation": "4alpha-carboxy-4beta-methyl-5alpha-cholest-8-en-3beta-ol + NAD(+) = 4alpha-methyl-5alpha-cholest-8-en-3-one + CO2 + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "47168", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47168" } ] }, { "id": "47172", "name": "", "equation": "4alpha-carboxy-5alpha-cholest-8-ene-3beta-ol + NAD(+) = 5alpha-cholest-8-en-3-one + CO2 + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPL3-1", "Q15738-1", "Q9R1J0-1" ], "evidence": [ { "id": "47172", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47172" } ] }, { "id": "R-HSA-194642", "name": "4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol is decarboxylated and oxidized to form 4-methylcholesta-8(9),24-dien-3-one", "equation": "", "summary": "4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol and NAD+ react to form 4-methylcholesta-8(9),24-dien-3-one, CO2, and NADH + H+. This reaction occurs in the endoplasmic reticulum, catalyzed by NSDHL (Caldas and Herman 2003). Defects in this enzyme are associated with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects) (Konig et al. 2000), but cholesterol biosynthesis in cells and tissues from affected individuals has not been characterized. Instead, the mechanism and stoichiometry of the reaction are inferred from biochemical studies of partially purified rat enzyme (Rahimtula and Gaylor 1972).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15738-1" ], "evidence": [ { "id": "R-HSA-194642", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194642" } ] }, { "id": "R-HSA-194718", "name": "4-carboxycholesta-8(9),24-dien-3beta-ol is decarboxylated and oxidized to form cholesta-8(9),24-dien-3-one (zymosterone)", "equation": "", "summary": "4-carboxycholesta-8(9),24-dien-3beta-ol and NAD+ react to form zymosterone (cholesta-8(9),24-dien-3-one), CO2, and NADH + H+. This reaction occurs in the endoplasmic reticulum, catalyzed by NSDHL (Caldas and Herman 2003). Defects in this enzyme are associated with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects) (Konig et al. 2000), but cholesterol biosynthesis in cells and tissues from affceted individuals has not been characterized. Instead, the mechanism and stoichiometry of the reaction are inferred from biochemical studies of partially purified rat enzyme (Rahimtula and Gaylor 1972).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q15738-1" ], "evidence": [ { "id": "R-HSA-194718", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194718" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P53199", "gene_name": "ERG26", "activity": [ { "ec_number": "1.1.1.170", "activity": "a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH.", "evidence": [ { "id": "P53199", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53199" } ] }, { "ec_number": "1.1.1.170", "activity": "", "evidence": [ { "id": "P53199", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53199" } ] } ] }, { "uniprot_ac": "Q15738", "gene_name": "NSDHL", "activity": [ { "ec_number": "1.1.1.170", "activity": "a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH.", "evidence": [ { "id": "Q15738", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15738" } ] }, { "ec_number": "1.1.1.170", "activity": "", "evidence": [ { "id": "Q15738", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15738" } ] } ] }, { "uniprot_ac": "Q54L85", "gene_name": "nsdhl", "activity": [ { "ec_number": "1.1.1.170", "activity": "a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH.", "evidence": [ { "id": "Q54L85", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54L85" } ] }, { "ec_number": "1.1.1.170", "activity": "", "evidence": [ { "id": "Q54L85", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54L85" } ] } ] }, { "uniprot_ac": "Q5PPL3", "gene_name": "Nsdhl", "activity": [ { "ec_number": "1.1.1.170", "activity": "a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH.", "evidence": [ { "id": "Q5PPL3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5PPL3" } ] }, { "ec_number": "1.1.1.170", "activity": "", "evidence": [ { "id": "Q5PPL3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5PPL3" } ] } ] }, { "uniprot_ac": "Q9R1J0", "gene_name": "Nsdhl", "activity": [ { "ec_number": "1.1.1.170", "activity": "a 3beta-hydroxysteroid-4alpha-carboxylate + NADP(+) = a 3-oxosteroid + CO2 + NADPH.", "evidence": [ { "id": "Q9R1J0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R1J0" } ] }, { "ec_number": "1.1.1.170", "activity": "", "evidence": [ { "id": "Q9R1J0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R1J0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": 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