{ "uniprot_canonical_ac": "O75911-1", "uniprot_ac": "O75911", "uniprot_id": "DHRS3_HUMAN", "mass": { "chemical_mass": 33548.0, "monoisotopic_mass": 33548.0 }, "refseq": { "ac": "NP_004744", "name": "short-chain dehydrogenase/reductase 3 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" }, "gene_names": [ { "name": "DHRS3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75911", "id": "O75911" }, { "name": "CNALPTC1; DD83.1; RDH17; retSDR1; Rsdr1; SDR1; SDR16C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744", "id": "NP_004744" }, { "name": "DHRS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744", "id": "NP_004744" }, { "name": "PRO4983", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75911", "id": "O75911" }, { "name": "RDH17", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75911", "id": "O75911" }, { "name": "SDR16C1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75911", "id": "O75911" } ], "protein_names": [ { "name": "Short-chain dehydrogenase/reductase 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75911" }, { "name": "1.1.1.300", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75911" }, { "name": "DD83.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75911" }, { "name": "Retinal short-chain dehydrogenase/reductase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75911" }, { "name": "Retinol dehydrogenase 17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75911" }, { "name": "Short chain dehydrogenase/reductase family 16C member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75911" }, { "name": "retSDR1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75911" }, { "name": "short-chain dehydrogenase/reductase 1; short-chain dehydrogenase/reductase 3; retinal short-chain dehydrogenase/reductase 1; retinol dehydrogenase 17; short chain dehydrogenase/reductase family 16C member 1; dehydrogenase/reductase (SDR family) member 3; dehydrogenase/reductase member 3; copy number amplified long noncoding RNA in papillary thyroid cancer 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744", "id": "NP_004744" }, { "name": "short-chain dehydrogenase/reductase 3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744", "id": "NP_004744" } ], "function": [ { "annotation": "Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH.", "evidence": [ { "database": "UniProtKB", "id": "O75911", "url": "https://www.uniprot.org/uniprot/O75911#function" }, { "database": "PubMed", "id": "9705317", "url": "https://glygen.org/publication/PubMed/9705317" } ] }, { "annotation": "CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" }, { "database": "PubMed", "id": "36840946", "url": "https://glygen.org/publication/PubMed/36840946" } ] }, { "annotation": "Inhibition of retinoic acid receptor alpha phosphorylation represses the progression of triple-negative breast cancer via transactivating miR-3074-5p to target DHRS3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" }, { "database": "PubMed", "id": "33902658", "url": "https://glygen.org/publication/PubMed/33902658" } ] }, { "annotation": "Mouse Dhrs3 plays critical roles in the development of the heart by controlling the formation of retinoic acid.", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" }, { "database": "PubMed", "id": "29447006", "url": "https://glygen.org/publication/PubMed/29447006" } ] }, { "annotation": "We proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA.", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" }, { "database": "PubMed", "id": "28371410", "url": "https://glygen.org/publication/PubMed/28371410" } ] }, { "annotation": "Yap targets Dhrs3, to reduce retinoic acid synthesis and inhibit cardiac fibroblast differentiation during development.", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" }, { "database": "PubMed", "id": "29689192", "url": "https://glygen.org/publication/PubMed/29689192" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "85.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162496" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75911" } ], "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, 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}, { "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": "O75911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75911" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75911", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75911" } ], "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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75911" } ], "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": 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"url": "https://www.ensembl.org/id/ENSP00000480439.1" } ] } }, { "isoform_ac": "O75911-2", "url": "", "sequence": { "sequence": "MVWKRLGALVMFPLQMIYLVVKAAVGLVLPAKLRDLSRENVLITGGGRGIGRQLAREFAERGARKIVLWGRTEKCLKETTEEIRQMGTECHYFICDVGNREEVYQTAKAVREKVCSLGGSIPSTADHRLIPGKENILMWPGRELCLWQNGFARGTFGDSPMKLAPVT", "length": 167, "header": "sp|O75911-2|DHRS3_HUMAN Isoform 2 of Short-chain dehydrogenase/reductase 3 OS=Homo sapiens OX=9606 GN=DHRS3 PE=1 SV=2 CANONICAL=O75911-1" }, "locus": {} }, { "isoform_ac": "Q5SUY4-1", "url": "", "sequence": { "sequence": "MGTECHYFICDVGNREEVYQTAKAVREKVGDITILVNNAAVVHGKSLMDSDDDALLKSQHINTLGQFWTTKAFLPRMLELQNGHIVCLNSVLALSAIPGAIDYCTSKASAFAFMESLTLGLLDCPGVSATTVLPFHTSTEMFQGMRV", "length": 147, "header": "tr|Q5SUY4-1|Q5SUY4_HUMAN Computationally mapped isoform of Dehydrogenase/reductase 3 OS=Homo sapiens OX=9606 GN=DHRS3 PE=1 SV=1 CANONICAL=O75911-1" }, "locus": { "chromosome": "1", "start_pos": 12580606, "end_pos": 12578720, "strand": "+", "evidence": [ { "database": "Ensembl 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"journal": "Nature genetics", "date": "1999", "authors": "Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "10369264", "url": "https://glygen.org/publication/PubMed/10369264" } ] }, { "title": "Retinoid-binding proteins: mediators of retinoid action.", "journal": "The Biochemical journal", "date": "2000", "authors": "Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "10839978", "url": "https://glygen.org/publication/PubMed/10839978" } ] }, { "title": "cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin M, Napoli JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "11007799", "url": "https://glygen.org/publication/PubMed/11007799" } ] }, { "title": "Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium.", "journal": "Cancer research", "date": "2001", "authors": "Lin B, White JT, Ferguson C, Wang S, Vessella R, Bumgarner R, True LD, Hood L, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "11245473", "url": "https://glygen.org/publication/PubMed/11245473" } ] }, { "title": "retSDR1, a short-chain retinol dehydrogenase/reductase, is retinoic acid-inducible and frequently deleted in human neuroblastoma cell lines.", "journal": "Cancer Res.", "date": "2002", "authors": "Cerignoli Fabio, Guo Xiaojia, Cardinali Beatrice, Rinaldi Christian, Casaletto Jessica, Frati Luigi, Screpanti Isabella, Gudas Lorraine J, Gulino Alberto, Thiele Carol J, Giannini Giuseppe", "evidence": [ { "database": "UniProtKB", "id": "O75911", "url": "https://www.uniprot.org/uniprot/O75911" } ], "reference": [ { "type": "PubMed", "id": "11861404", "url": "https://glygen.org/publication/PubMed/11861404" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "Rhodopsin with 11-cis-locked chromophore is capable of forming an active state photoproduct.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fan G, Siebert F, Sheves M, Vogel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "12177057", "url": "https://glygen.org/publication/PubMed/12177057" } ] }, { "title": "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Haeseleer F, Jang GF, Imanishi Y, Driessen CAGG, Matsumura M, Nelson PS, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "12226107", "url": "https://glygen.org/publication/PubMed/12226107" } ] }, { "title": "Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight.", "journal": "Neuron", "date": "2002", "authors": "Mata NL, Radu RA, Clemmons RC, Travis GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "12367507", "url": "https://glygen.org/publication/PubMed/12367507" } ] }, { "title": "Reduction of all-trans-retinal in the mouse liver peroxisome fraction by the short-chain dehydrogenase/reductase RRD: induction by the PPAR alpha ligand clofibrate.", "journal": "Biochemistry", "date": "2003", "authors": "Lei Z, Chen W, Zhang M, Napoli JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "12680773", 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"https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Taimi M, Helvig C, Wisniewski J, Ramshaw H, White J, Amad M, Korczak B, Petkovich M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "14532297", "url": "https://glygen.org/publication/PubMed/14532297" } ] }, { "title": "Genomic organization and transcription of the human retinol dehydrogenase 10 (RDH10) gene.", "journal": "FEBS letters", "date": "2003", "authors": "Picozzi P, Marozzi A, Fornasari D, Benfante R, Barisani D, Meneveri R, Ginelli E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": 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"https://glygen.org/publication/PubMed/18039331" } ] }, { "title": "Retinoic acid synthesis and signaling during early organogenesis.", "journal": "Cell", "date": "2008", "authors": "Duester G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "18805086", "url": "https://glygen.org/publication/PubMed/18805086" } ] }, { "title": "Cloning and characterization of the human ADH4 gene.", "journal": "Gene", "date": "1991", "authors": "von Bahr-Lindstrom H, Jornvall H, Hoog JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "1889753", "url": "https://glygen.org/publication/PubMed/1889753" } ] }, { "title": "The first step in vision: femtosecond isomerization of rhodopsin.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Schoenlein RW, Peteanu LA, Mathies RA, Shank CV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "1925597", "url": "https://glygen.org/publication/PubMed/1925597" } ] }, { "title": "An alternative pathway mediates the mouse and human cone visual cycle.", "journal": "Current biology : CB", "date": "2009", "authors": "Wang JS, Kefalov VJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "19781940", "url": "https://glygen.org/publication/PubMed/19781940" } ] }, { "title": "Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "He X, Lobsiger J, Stocker A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "19846785", "url": "https://glygen.org/publication/PubMed/19846785" } ] }, { "title": "Retinol dehydrogenases (RDHs) in the visual cycle.", "journal": "Experimental eye research", "date": "2010", "authors": "Parker RO, Crouch RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "20801113", "url": "https://glygen.org/publication/PubMed/20801113" } ] }, { "title": "Cytochrome P450s in the regulation of cellular retinoic acid metabolism.", "journal": "Annual review of nutrition", "date": "2011", "authors": "Ross AC, Zolfaghari R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "21529158", "url": "https://glygen.org/publication/PubMed/21529158" } ] }, { "title": "Physiological insights into all-trans-retinoic acid biosynthesis.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Napoli JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "21621639", "url": "https://glygen.org/publication/PubMed/21621639" } ] }, { "title": "Retinaldehyde is a substrate for human aldo-keto reductases of the 1C subfamily.", "journal": "The Biochemical journal", "date": "2011", "authors": "Ruiz FX, Porte S, Gallego O, Moro A, Ardevol A, Del Rio-Espinola A, Rovira C, Farres J, Pares X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "21851338", "url": "https://glygen.org/publication/PubMed/21851338" } ] }, { "title": "Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.", "journal": "American journal of human genetics", "date": "2011", "authors": "Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "22019272", "url": "https://glygen.org/publication/PubMed/22019272" } ] }, { "title": "Characterization and comparative structural features of the gene for human interstitial retinol-binding protein.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Fong SL, Fong WB, Morris TA, Kedzie KM, Bridges CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "2303470", "url": "https://glygen.org/publication/PubMed/2303470" } ] }, { "title": "Identification of DES1 as a vitamin A isomerase in Muller glial cells of the retina.", "journal": "Nature chemical biology", "date": "2013", "authors": "Kaylor JJ, Yuan Q, Cook J, Sarfare S, Makshanoff J, Miu A, Kim A, Kim P, Habib S, Roybal CN, Xu T, Nusinowitz S, Travis GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "23143414", "url": "https://glygen.org/publication/PubMed/23143414" } ] }, { "title": "Retinoic acid biosynthesis catalyzed by retinal dehydrogenases relies on a rate-limiting conformational transition associated with substrate recognition.", "journal": "Chemico-biological interactions", "date": "2013", "authors": "Bchini R, Vasiliou V, Branlant G, Talfournier F, Rahuel-Clermont S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "23220587", "url": "https://glygen.org/publication/PubMed/23220587" } ] }, { "title": "Chemistry of the retinoid (visual) cycle.", "journal": "Chemical reviews", "date": "2014", "authors": "Kiser PD, Golczak M, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "23905688", "url": "https://glygen.org/publication/PubMed/23905688" } ] }, { "title": "Identification of the 11-cis-specific retinyl-ester synthase in retinal Muller cells as multifunctional O-acyltransferase (MFAT).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Kaylor JJ, Cook JD, 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Gene structure and primary structure.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Liou GI, Ma DP, Yang YW, Geng L, Zhu C, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "2542268", "url": "https://glygen.org/publication/PubMed/2542268" } ] }, { "title": "Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.", "journal": "Journal of lipid research", "date": "2017", "authors": "Arne JM, Widjaja-Adhi MA, Hughes T, Huynh KW, Silvaroli JA, Chelstowska S, Moiseenkova-Bell VY, Golczak M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "28096191", "url": "https://glygen.org/publication/PubMed/28096191" } ] }, { "title": "New genes associated with rheumatoid arthritis identified by gene expression profiling.", "journal": "International journal of immunogenetics", "date": "2017", "authors": "Wang H, Guo J, Jiang J, Wu W, Chang X, Zhou H, Li Z, Zhao J", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" } ], "reference": [ { "type": "PubMed", "id": "28371410", "url": "https://glygen.org/publication/PubMed/28371410" } ] }, { "title": "Three human alcohol dehydrogenase subunits: cDNA structure and molecular and evolutionary divergence.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Ikuta T, Szeto S, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "2935875", "url": "https://glygen.org/publication/PubMed/2935875" } ] }, { "title": "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Nathans J, Thomas D, Hogness DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2187335", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2187335" } ], "reference": [ { "type": "PubMed", "id": "2937147", "url": "https://glygen.org/publication/PubMed/2937147" } ] }, { "title": "Retinoic acid signaling promotes the cytoskeletal rearrangement of embryonic epicardial cells.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2018", "authors": "Wang S, Yu J, Jones JW, Pierzchalski K, Kane MA, Trainor PA, Xavier-Neto J, Moise AR", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" } ], "reference": [ { "type": "PubMed", "id": "29447006", "url": "https://glygen.org/publication/PubMed/29447006" } ] }, { "title": "Hippo Signaling Plays an Essential Role in Cell State Transitions during Cardiac Fibroblast Development.", "journal": "Developmental cell", "date": "2018", "authors": "Xiao Y, Hill MC, Zhang M, Martin TJ, Morikawa Y, Wang S, Moise AR, Wythe JD, Martin JF", "evidence": [ { "database": "RefSeq", "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744" } ], "reference": [ { "type": "PubMed", "id": "29689192", "url": "https://glygen.org/publication/PubMed/29689192" } ] }, { "title": "cDNA and protein structure for the alpha subunit of human liver alcohol dehydrogenase.", "journal": "Biochemistry", "date": "1986", "authors": "von Bahr-Lindstrom H, Hoog JO, Heden LO, Kaiser R, Fleetwood L, Larsson K, Lake M, Holmquist B, Holmgren A, Hempel J, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "3013304", "url": "https://glygen.org/publication/PubMed/3013304" } ] 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"Q6AXX5-1", "D3ZEP9-1", "A0A8I6ASF1-1", "A0A8I6A068-1", "C9JRZ8-1", "O60218-1", "P15121-1", "O75911-1", "Q9NYR8-1", "Q96NR8-1", "Q9HBH5-1", "Q8TC12-1", "Q8IZV5-1", "Q8NBN7-1", "Q9Y394-1", "Q8VCH7-1", "P45376-1", "O88876-1", "Q8CEE7-1", "Q9ERI6-1", "Q8BYK4-1", "Q9QYF1-1", "D3Z6W3-1", "Q99LB2-1", "Q9CXR1-1", "Q9W3K9-1", "Q9VKB8-1" ], "evidence": [ { "id": "25033", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/25033" } ] }, { "id": "R-HSA-2465940", "name": "atRAL is reduced to atROL", "equation": "", "summary": "All-trans-retinal (atRAL) can diffuse across membranes to the cytosol and is reduced to all-trans-retinol (atROL) by the action of a short-chain dehydrogenase/reductase 3 using NADP+/NADPH as cofactor (Haeseleer et al. 1998).", "cellular_location": "cytosol, photoreceptor outer segment membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75911-1" ], "evidence": [ { "id": "R-HSA-2465940", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2465940" } ] }, { "id": "R-HSA-5419165", "name": "RDH11,14,DHRS3,DRHS4 reduce atRAL to atROL", "equation": "", "summary": "Multiple reductases may contribute to the reduction of all-trans-retinal (atRAL) to all-trans-retinol (atROL), including RDH11 (aka PSDR1, RalR1), RDH14, DHRS3 (aka retSDR1, RDH17) and DHRS4 (aka RRD, SCAD-SRL) (Haeseleer et al. 1998, Haeseleer et al. 2002, Kedishvili et al. 2002, Lin et al. 2001, Zhen et al. 2003, Belyaeva et al. 2008).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9BTZ2-1", "O75911-1", "Q8TC12-1", "Q9HBH5-1" ], "evidence": [ { "id": "R-HSA-5419165", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419165" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6A068", "gene_name": "Akr1b1-ps2", "activity": [ { "ec_number": "1.1.1.300", 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"https://www.uniprot.org/uniprot/A0A8I6AEH6" } ] }, { "ec_number": "1.1.1.21", "activity": "an alditol + NADP(+) = an aldose + H(+) + NADPH.", "evidence": [ { "id": "A0A8I6AEH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AEH6" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "A0A8I6AEH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AEH6" } ] }, { "ec_number": "1.1.1.21", "activity": "", "evidence": [ { "id": "A0A8I6AEH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AEH6" } ] } ] }, { "uniprot_ac": "A0A8I6ASF1", "gene_name": "Akr1b1-ps1", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "A0A8I6ASF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ASF1" } ] }, { "ec_number": "1.1.1.21", "activity": "an alditol + NADP(+) = an aldose + H(+) + NADPH.", "evidence": [ { "id": "A0A8I6ASF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ASF1" } ] }, { "ec_number": "1.1.1.21", "activity": "", "evidence": [ { "id": "A0A8I6ASF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ASF1" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "A0A8I6ASF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6ASF1" } ] } ] }, { "uniprot_ac": "C9JRZ8", "gene_name": "AKR1B15", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] }, { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] }, { "ec_number": "1.1.1.64", "activity": "NADP(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] }, { "ec_number": "1.1.1.54", "activity": "allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] }, { "ec_number": "1.1.1.216", "activity": "(2E,6E)-farnesol + NADP(+) = (2E,6E)-farnesal + H(+) + NADPH.", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "C9JRZ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9JRZ8" } ] } ] }, { "uniprot_ac": "D3Z6W3", "gene_name": "Rdh8", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "D3Z6W3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z6W3" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "D3Z6W3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z6W3" } ] } ] }, { "uniprot_ac": "D3ZEP9", "gene_name": "Rdh12", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "D3ZEP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZEP9" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "D3ZEP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZEP9" } ] } ] }, { "uniprot_ac": "D4A8D2", "gene_name": "Rdh8", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "D4A8D2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A8D2" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "D4A8D2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A8D2" } ] } ] }, { "uniprot_ac": "O60218", "gene_name": "AKR1B10", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "O60218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60218" } ] }, { "ec_number": "1.1.1.54", "activity": "allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.", "evidence": [ { "id": "O60218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60218" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "O60218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60218" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "O60218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60218" } ] } ] }, { "uniprot_ac": "O75911", "gene_name": "DHRS3", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "O75911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75911" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "O75911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75911" } ] } ] }, { "uniprot_ac": "O88876", "gene_name": "Dhrs3", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "O88876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88876" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "O88876", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88876" } ] } ] }, { "uniprot_ac": "P07943", "gene_name": "Akr1b1", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.21", "activity": "an alditol + NADP(+) = an aldose + H(+) + NADPH.", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.372", "activity": "glycerol + NADP(+) = H(+) + L-glyceraldehyde + NADPH.", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.54", "activity": "allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.21", "activity": "", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.372", "activity": "", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "P07943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07943" } ] } ] }, { "uniprot_ac": "P15121", "gene_name": "AKR1B1", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.21", "activity": "an alditol + NADP(+) = an aldose + H(+) + NADPH.", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.372", "activity": "glycerol + NADP(+) = H(+) + L-glyceraldehyde + NADPH.", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.54", "activity": "allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.372", "activity": "", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] }, { "ec_number": "1.1.1.21", "activity": "", "evidence": [ { "id": "P15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15121" } ] } ] }, { "uniprot_ac": "P45376", "gene_name": "Akr1b1", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.21", "activity": "an alditol + NADP(+) = an aldose + H(+) + NADPH.", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.21", "activity": "", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.372", "activity": "glycerol + NADP(+) = H(+) + L-glyceraldehyde + NADPH.", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.54", "activity": "allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] }, { "ec_number": "1.1.1.372", "activity": "", "evidence": [ { "id": "P45376", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45376" } ] } ] }, { "uniprot_ac": "Q6AXX5", "gene_name": "Rdh11", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q6AXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AXX5" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q6AXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AXX5" } ] } ] }, { "uniprot_ac": "Q80ZF7", "gene_name": "Rdh10", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q80ZF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80ZF7" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q80ZF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80ZF7" } ] } ] }, { "uniprot_ac": "Q8BYK4", "gene_name": "Rdh12", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8BYK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BYK4" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8BYK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BYK4" } ] } ] }, { "uniprot_ac": "Q8CEE7", "gene_name": "Rdh13", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8CEE7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CEE7" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8CEE7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CEE7" } ] } ] }, { "uniprot_ac": "Q8IZV5", "gene_name": "RDH10", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8IZV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IZV5" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8IZV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IZV5" } ] } ] }, { "uniprot_ac": "Q8NBN7", "gene_name": "RDH13", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8NBN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBN7" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8NBN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBN7" } ] } ] }, { "uniprot_ac": "Q8TC12", "gene_name": "RDH11", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8TC12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TC12" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8TC12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TC12" } ] } ] }, { "uniprot_ac": "Q8VCH7", "gene_name": "Rdh10", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8VCH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCH7" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8VCH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCH7" } ] } ] }, { "uniprot_ac": "Q8VID1", "gene_name": "Dhrs4", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q8VID1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VID1" } ] }, { "ec_number": "1.1.1.184", "activity": "a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH.", "evidence": [ { "id": "Q8VID1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VID1" } ] }, { "ec_number": "1.1.1.184", "activity": "", "evidence": [ { "id": "Q8VID1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VID1" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q8VID1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VID1" } ] } ] }, { "uniprot_ac": "Q96NR8", "gene_name": "RDH12", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q96NR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96NR8" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q96NR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96NR8" } ] } ] }, { "uniprot_ac": "Q99LB2", "gene_name": "Dhrs4", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q99LB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LB2" } ] }, { "ec_number": "1.1.1.184", "activity": "a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH.", "evidence": [ { "id": "Q99LB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LB2" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q99LB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LB2" } ] }, { "ec_number": "1.1.1.184", "activity": "", "evidence": [ { "id": "Q99LB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LB2" } ] } ] }, { "uniprot_ac": "Q9BTZ2", "gene_name": "DHRS4", "activity": [ { "ec_number": "1.1.1.184", "activity": "a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH.", "evidence": [ { "id": "Q9BTZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTZ2" } ] }, { "ec_number": "1.1.1.184", "activity": "", "evidence": [ { "id": "Q9BTZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTZ2" } ] } ] }, { "uniprot_ac": "Q9CXR1", "gene_name": "Dhrs7", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q9CXR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CXR1" } ] } ] }, { "uniprot_ac": "Q9ERI6", "gene_name": "Rdh14", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q9ERI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ERI6" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q9ERI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ERI6" } ] } ] }, { "uniprot_ac": "Q9HBH5", "gene_name": "RDH14", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q9HBH5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HBH5" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q9HBH5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HBH5" } ] } ] }, { "uniprot_ac": "Q9NYR8", "gene_name": "RDH8", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q9NYR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYR8" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q9NYR8", "database": "UniProtKB", "url": 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