{ "uniprot_canonical_ac": "Q8IW45-1", "uniprot_ac": "Q8IW45", "uniprot_id": "NNRD_HUMAN", "mass": { "chemical_mass": 36576.0, "monoisotopic_mass": 36576.0 }, "refseq": { "ac": "NP_001229810", "name": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform b", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810" }, "gene_names": [ { "name": "NAXD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IW45", "id": "Q8IW45" }, { "name": "CARKD; LP3298; PEBEL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810", "id": "NP_001229810" }, { "name": "CARKD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IW45", "id": "Q8IW45" }, { "name": "FLJ10769", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IW45", "id": "Q8IW45" }, { "name": "NAXD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810", "id": "NP_001229810" }, { "name": "hCG_32552", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IW45", "id": "Q8IW45" } ], "protein_names": [ { "name": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IW45" }, { "name": "4.2.1.93", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IW45" }, { "name": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810", "id": "NP_001229810" }, { "name": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811", "id": "NP_001229811" }, { "name": "ATP-dependent NAD(P)HX dehydratase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IW45" }, { "name": "Carbohydrate kinase domain-containing protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IW45" }, { "name": "NAD(P)HX dehydratase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IW45" }, { "name": "carbohydrate kinase domain-containing protein; ATP-dependent NAD(P)HX dehydratase; ATP-dependent (S)-NAD(P)H-hydrate dehydratase; ATP-dependent NAD(P)H-hydrate dehydratase; carbohydrate kinase domain containing", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811", "id": "NP_001229811" } ], "function": [ { "annotation": "Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.", "evidence": [ { "database": "UniProtKB", "id": "A0A7P0T9R3", "url": "https://www.uniprot.org/uniprot/A0A7P0T9R3#function" }, { "database": "UniProtKB", "id": "MF_03157", "url": "https://www.uniprot.org/uniprot/MF_03157#function" }, { "database": "UniProtKB", "id": "A0A7P0T9D8", "url": "https://www.uniprot.org/uniprot/A0A7P0T9D8#function" }, { "database": "UniProtKB", "id": "A0A7P0T906", "url": "https://www.uniprot.org/uniprot/A0A7P0T906#function" }, { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45#function" }, { "database": "PubMed", "id": "30576410", "url": "https://glygen.org/publication/PubMed/30576410" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001229810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" }, { "database": "RefSeq", "id": "NP_001229811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811" } ] }, { "annotation": "Results show that NAXD deficiency can be classified as a metabolite repair disorder in which accumulation of damaged metabolites likely triggers devastating effects in tissues such as the brain and the heart, eventually leading to early childhood death.", "evidence": [ { "database": "RefSeq", "id": "NP_001229810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810" }, { "database": "PubMed", "id": "30576410", "url": "https://glygen.org/publication/PubMed/30576410" }, { "database": "RefSeq", "id": "NP_001229811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811" } ] }, { "annotation": "Wide tissue distribution of dehydratase and epimerase is consistent with mRNA data for Carkd and Aibp, and their presence in both mitochondria and cytosol is explained by the existence of differently targeted forms of CARKD and AIBP.", "evidence": [ { "database": "RefSeq", "id": "NP_001229810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810" }, { "database": "PubMed", "id": "24611804", "url": "https://glygen.org/publication/PubMed/24611804" }, { "database": "RefSeq", "id": "NP_001229811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811" } ] } ], "disease": [ { "disease_id": "MONDO:0034121", "recommended_name": { "id": "MONDO:0034121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034121", "name": "NAD(P)HX dehydratase deficiency", "description": "" }, "synonyms": [ { "id": "MONDO:0034121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034121", "name": "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2", "description": "" }, { "id": "MONDO:0034121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034121", "name": "PEBEL2", "description": "" }, { "id": "MIM:618321", "resource": "MIM", "url": "https://www.omim.org/entry/618321", "name": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2", "description": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2" } ], "evidence": [ { "id": "618321", "database": "MIM", "url": "https://www.omim.org/entry/618321" } ] } ], "snv": [ { "evidence": [ { "id": "rs758999979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758999979" }, { "id": "rs758999979", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758999979" }, { "id": "rs758999979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758999979" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 228, "end_pos": 228, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HGS->NGS).", "chr_id": "13", "chr_pos": "110635498", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149297756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149297756" }, { "id": "rs149297756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149297756" }, { "id": "rs149297756", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149297756#frequency_tab" }, { "id": "rs149297756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149297756" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 242, "end_pos": 242, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "13", "chr_pos": "110635541", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T242", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8IW45", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IW45" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q8IW45", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IW45" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8IW45", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IW45" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8IW45", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IW45" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q8IW45", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IW45" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET", "length": 347, "header": "sp|Q8IW45-1|NNRD_HUMAN Isoform 1 of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "isoforms": [ { "isoform_ac": "A0A7P0T906-1", "url": "", "sequence": { "sequence": "MALGPRCGAIRACRRVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGGISDLKLTIWGPEIETGVKTRAQGSCGPRTTTPTSPHLLLSPSPQVQPSPGGRVWRLLSHQAVQPPSLPEARSLHHHLRHDRRGGGRLQQAL", "length": 372, "header": "tr|A0A7P0T906-1|A0A7P0T906_HUMAN Computationally mapped isoform of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110638518, "end_pos": 110615602, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679389.1", "url": "https://www.ensembl.org/id/ENST00000679389.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505318.1", "url": "https://www.ensembl.org/id/ENSP00000505318.1" } ] } }, { "isoform_ac": "A0A7P0T9D8-1", "url": "", "sequence": { "sequence": "MALGPRCGAIRACRRVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET", "length": 329, "header": "tr|A0A7P0T9D8-1|A0A7P0T9D8_HUMAN Computationally mapped isoform of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110638525, "end_pos": 110615602, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680254.1", "url": "https://www.ensembl.org/id/ENST00000680254.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505619.1", "url": "https://www.ensembl.org/id/ENSP00000505619.1" } ] } }, { "isoform_ac": "A0A7P0T9R3-1", "url": "", "sequence": { "sequence": "MGASVRGDRGAEGGAGPEPVRVPGAAEPARWPGNGGPRAEDVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET", "length": 355, "header": "tr|A0A7P0T9R3-1|A0A7P0T9R3_HUMAN Computationally mapped isoform of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110638525, "end_pos": 110615936, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680312.1", "url": "https://www.ensembl.org/id/ENST00000680312.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505802.1", "url": "https://www.ensembl.org/id/ENSP00000505802.1" } ] } }, { "isoform_ac": "A0A7P0TAU0-1", "url": "", "sequence": { "sequence": "MALGPRCGAIRACRRVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVL", "length": 111, "header": "tr|A0A7P0TAU0-1|NNRD_HUMAN Computationally mapped isoform of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110625279, "end_pos": 110615602, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679968.1", "url": "https://www.ensembl.org/id/ENST00000679968.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506246.1", "url": "https://www.ensembl.org/id/ENSP00000506246.1" } ] } }, { "isoform_ac": "Q8IW45-1", "url": "", "sequence": { "sequence": "MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET", "length": 347, "header": "sp|Q8IW45-1|NNRD_HUMAN Isoform 1 of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110638525, "end_pos": 110615675, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680505.1", "url": "https://www.ensembl.org/id/ENST00000680505.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504986.1", "url": "https://www.ensembl.org/id/ENSP00000504986.1" } ] } }, { "isoform_ac": "Q8IW45-2", "url": "", "sequence": { "sequence": "MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGGISDLKLTIWGPEIETGVKTRAQGSCGPRTTTPTSPHLLLSPSPQVQPSPGGRVWRLLSHQAVQPPSLPEARSLHHHLRHDRRGGGRLQQAL", "length": 390, "header": "sp|Q8IW45-2|NNRD_HUMAN Isoform 2 of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110638518, "end_pos": 110615675, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000309957.3", "url": "https://www.ensembl.org/id/ENST00000309957.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000311984.2", "url": "https://www.ensembl.org/id/ENSP00000311984.2" } ] } }, { "isoform_ac": "Q8IW45-3", "url": "", "sequence": { "sequence": "MDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET", "length": 126, "header": "sp|Q8IW45-3|NNRD_HUMAN Isoform 3 of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": {} }, { "isoform_ac": "Q8IW45-4", "url": "", "sequence": { "sequence": "MLPDGPGSSLWGNPGLQTSDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET", "length": 237, "header": "sp|Q8IW45-4|NNRD_HUMAN Isoform 4 of ATP-dependent (S)-NAD(P)H-hydrate dehydratase OS=Homo sapiens OX=9606 GN=NAXD PE=1 SV=1 CANONICAL=Q8IW45-1" }, "locus": { "chromosome": "13", "start_pos": 110638525, "end_pos": 110615592, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424185.7", "url": "https://www.ensembl.org/id/ENST00000424185.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000413191.2", "url": "https://www.ensembl.org/id/ENSP00000413191.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 240, "start_aa": "Asn", "end_pos": 240, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn240", "evidence": [ { "id": "Q8IW45", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IW45#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "Q8IW45", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IW45#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 85, "end_pos": 85, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" }, { "database": "phospho.ELM", "id": "Q8IW45", "url": "http://phospho.elm.eu.org/byAccession/Q8IW45.html" }, { "database": "iPTMnet", "id": "Q8IW45", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IW45" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr85" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Cloning and characterization of a novel apolipoprotein A-I binding protein, AI-BP, secreted by cells of the kidney proximal tubules in response to HDL or ApoA-I.", "journal": "Genomics", "date": "2002", "authors": "Ritter M, Buechler C, Boettcher A, Barlage S, Schmitz-Madry A, Orso E, Bared SM, Schmiedeknecht G, Baehr CH, Fricker G, Schmitz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "11991719", "url": "https://glygen.org/publication/PubMed/11991719" } ] }, { "title": "Mammalian NADH diphosphatases of the Nudix family: cloning and characterization of the human peroxisomal NUDT12 protein.", "journal": "The Biochemical journal", "date": "2003", "authors": "Abdelraheim SR, Spiller DG, McLennan AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "12790796", "url": "https://glygen.org/publication/PubMed/12790796" } ] }, { "title": "Biosynthesis of diphosphopyridine nucleotide. II. Enzymatic aspects.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "PREISS J, HANDLER P", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "13563527", "url": "https://glygen.org/publication/PubMed/13563527" } ] }, { "title": "Functional identification of SLC5A8, a tumor suppressor down-regulated in colon cancer, as a Na(+)-coupled transporter for short-chain fatty acids.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Miyauchi S, Gopal E, Fei YJ, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "14966140", "url": "https://glygen.org/publication/PubMed/14966140" } ] }, { "title": "The human tumour suppressor gene SLC5A8 expresses a Na+-monocarboxylate cotransporter.", "journal": "The Journal of physiology", "date": "2004", "authors": "Coady MJ, Chang MH, Charron FM, Plata C, Wallendorff B, Sah JF, Markowitz SD, Romero MF, Lapointe JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "15090606", "url": "https://glygen.org/publication/PubMed/15090606" } ] }, { "title": "PARP-10, a novel Myc-interacting protein with poly(ADP-ribose) polymerase activity, inhibits transformation.", "journal": "Oncogene", "date": "2005", "authors": "Yu M, Schreek S, Cerni C, Schamberger C, Lesniewicz K, Poreba E, Vervoorts J, Walsemann G, Grotzinger J, Kremmer E, Mehraein Y, Mertsching J, Kraft R, Austen M, Luscher-Firzlaff J, Luscher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "15674325", "url": "https://glygen.org/publication/PubMed/15674325" } ] }, { "title": "Elevation of cellular NAD levels by nicotinic acid and involvement of nicotinic acid phosphoribosyltransferase in human cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Hara N, Yamada K, Shibata T, Osago H, Hashimoto T, Tsuchiya M", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "17604275", "url": "https://glygen.org/publication/PubMed/17604275" } ] }, { "title": "1-Methylnicotinamide (MNA), a primary metabolite of nicotinamide, exerts anti-thrombotic activity mediated by a cyclooxygenase-2/prostacyclin pathway.", "journal": "British journal of pharmacology", "date": "2007", "authors": "Chlopicki S, Swies J, Mogielnicki A, Buczko W, Bartus M, Lomnicka M, Adamus J, Gebicki J", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "17641676", "url": "https://glygen.org/publication/PubMed/17641676" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q8IW45", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IW45" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Identification of a new urate and high affinity nicotinate transporter, hOAT10 (SLC22A13).", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Bahn A, Hagos Y, Reuter S, Balen D, Brzica H, Krick W, Burckhardt BC, Sabolic I, Burckhardt G", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "18411268", "url": "https://glygen.org/publication/PubMed/18411268" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45#ptm_processing" }, { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_001229811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811" }, { "database": "RefSeq", "id": "NP_001229810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "FAD-binding site and NADP reactivity in human renalase: a new enzyme involved in blood pressure regulation.", "journal": "Journal of molecular biology", "date": "2011", "authors": "Milani M, Ciriello F, Baroni S, Pandini V, Canevari G, Bolognesi M, Aliverti A", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "21699903", "url": "https://glygen.org/publication/PubMed/21699903" } ] }, { "title": "Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Marbaix AY, Noel G, Detroux AM, Vertommen D, Van Schaftingen E, Linster CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "21994945", "url": "https://glygen.org/publication/PubMed/21994945" } ] }, { "title": "PARP16/ARTD15 is a novel endoplasmic-reticulum-associated mono-ADP-ribosyltransferase that interacts with, and modifies karyopherin-ss1.", "journal": "PloS one", "date": "2012", "authors": "Di Paola S, Micaroni M, Di Tullio G, Buccione R, Di Girolamo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "22701565", "url": "https://glygen.org/publication/PubMed/22701565" } ] }, { "title": "BAL1 and its partner E3 ligase, BBAP, link Poly(ADP-ribose) activation, ubiquitylation, and double-strand DNA repair independent of ATM, MDC1, and RNF8.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Yan Q, Xu R, Zhu L, Cheng X, Wang Z, Manis J, Shipp MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "23230272", "url": "https://glygen.org/publication/PubMed/23230272" } ] }, { "title": "Occurrence and subcellular distribution of the NADPHX repair system in mammals.", "journal": "The Biochemical journal", "date": "2014", "authors": "Marbaix AY, Tyteca D, Niehaus TD, Hanson AD, Linster CL, Van Schaftingen E", "evidence": [ { "database": "RefSeq", "id": "NP_001229810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229810" }, { "database": "RefSeq", "id": "NP_001229811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229811" } ], "reference": [ { "type": "PubMed", "id": "24611804", "url": "https://glygen.org/publication/PubMed/24611804" } ] }, { "title": "Nicotinamide N-methyltransferase knockdown protects against diet-induced obesity.", "journal": "Nature", "date": "2014", "authors": "Kraus D, Yang Q, Kong D, Banks AS, Zhang L, Rodgers JT, Pirinen E, Pulinilkunnil TC, Gong F, Wang YC, Cen Y, Sauve AA, Asara JM, Peroni OD, Monia BP, Bhanot S, Alhonen L, Puigserver P, Kahn BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-197264", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-197264" } ], "reference": [ { "type": "PubMed", "id": "24717514", "url": "https://glygen.org/publication/PubMed/24717514" } ] }, { "title": "Metabolic function for human renalase: oxidation of isomeric forms of 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"id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" }, { "name": "hydro-lyase activity", "id": "GO:0016836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016836", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "nicotinamide nucleotide metabolic process", "id": "GO:0046496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046496", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" }, { "name": "NAD biosynthesis via nicotinamide riboside salvage pathway", "id": "GO:0034356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034356", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" }, { "name": "metabolite repair", "id": "GO:0110051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110051", "evidence": [ { "database": "UniProtKB", "id": "Q8IW45", "url": "https://www.uniprot.org/uniprot/Q8IW45" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 240, "end_pos": 242, "annotation": "n_glycosylation_sequon" }, { "start_pos": 297, "end_pos": 299, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19017", "name": "", "equation": "(6S)-NADHX + ATP = ADP + H(+) + NADH + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4AAT7-1", "Q8IW45-1", "Q9CZ42-1", "P36059-1", "Q54FJ9-1", "Q9VVW8-1" ], "evidence": [ { "id": "19017", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19017" } ] }, { "id": "32231", "name": "", "equation": "(6S)-NADPHX + ATP = ADP + H(+) + NADPH + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4AAT7-1", "Q8IW45-1", "Q9CZ42-1", "P36059-1", "Q54FJ9-1", "Q9VVW8-1" ], "evidence": [ { "id": "32231", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/32231" } ] }, { "id": "R-HSA-6806967", "name": "CARKD dehydrates S-NAD(P)HX to NADPH", "equation": "", "summary": "Human ATP-dependent (S)-NAD(P)H-hydrate dehydratase (CARKD) is thought to catalyze the dehydration, and thus repair, of the S-form of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. The human event is deduced on the basis of evidence from mouse experiments (Marbaix et al. 2011).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-6807477" ], "output_participant_list": [], "enzyme_list": [ "Q8IW45-1" ], "evidence": [ { "id": "R-HSA-6806967", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806967" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6807477", "participant_name": "S-NADPHX [mitochondrial matrix]", "crossref": [ { "id": "C04899", "database": "COMPOUND", "url": "" }, { "id": "64084", "database": "ChEBI", "url": "" }, { "id": "000008219707", "database": "ZINC", "url": "" }, { "id": "000008219707", "database": "ZINC", "url": "" }, { "id": "C04899", "database": "COMPOUND", "url": "" }, { "id": "64084", "database": "ChEBI", "url": "" }, { "id": "C04899", "database": "COMPOUND", "url": "" }, { "id": "64084", "database": "ChEBI", "url": "" }, { "id": "000008219707", "database": "ZINC", 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