{ "uniprot_canonical_ac": "O94788-1", "uniprot_ac": "O94788", "uniprot_id": "AL1A2_HUMAN", "mass": { "chemical_mass": 56724.0, "monoisotopic_mass": 56724.0 }, "refseq": { "ac": "NP_001193826", "name": "retinal dehydrogenase 2 isoform 4", "summary": "This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" }, "gene_names": [ { "name": "ALDH1A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94788", "id": "O94788" }, { "name": "ALDH1A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826", "id": "NP_001193826" }, { "name": "DIH4; RALDH(II); RALDH2; RALDH2-T", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826", "id": "NP_001193826" }, { "name": "RALDH2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94788", "id": "O94788" } ], "protein_names": [ { "name": "Retinal dehydrogenase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94788" }, { "name": "1.2.1.36", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "ALDH1A2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "Aldehyde dehydrogenase family 1 member A2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "RALDH 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "RALDH(II)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "RalDH2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "Retinaldehyde-specific dehydrogenase type 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94788" }, { "name": "retinal dehydrogenase 2 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826", "id": "NP_001193826" }, { "name": "retinaldehyde-specific dehydrogenase type 2; retinal dehydrogenase 2; RALDH 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826", "id": "NP_001193826" } ], "function": [ { "annotation": "ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" }, { "database": "PubMed", "id": "36263470", "url": "https://glygen.org/publication/PubMed/36263470" } ] }, { "annotation": "An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" }, { "database": "PubMed", "id": "35059888", "url": "https://glygen.org/publication/PubMed/35059888" } ] }, { "annotation": "Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:29240402, PubMed:33565183). Retinoate signaling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female (PubMed:33565183) (Probable). Recognizes retinal as substrate, both in its free form and when bound to cellular retinol-binding protein (By similarity). Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal (By similarity). Displays complete lack of activity with citral (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788#function" }, { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprot/Q63639#function" }, { "database": "PubMed", "id": "33565183", "url": "https://glygen.org/publication/PubMed/33565183" }, { "database": "PubMed", "id": "29240402", "url": "https://glygen.org/publication/PubMed/29240402" }, { "database": "PubMed", "id": "22075477", "url": "https://glygen.org/publication/PubMed/22075477" } ] }, { "annotation": "Peanut protein acts as a TH2 adjuvant by inducing RALDH2 in human antigen-presenting cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" }, { "database": "PubMed", "id": "33378690", "url": "https://glygen.org/publication/PubMed/33378690" } ] }, { "annotation": "The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" }, { "database": "PubMed", "id": "34572134", "url": "https://glygen.org/publication/PubMed/34572134" } ] }, { "annotation": "This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" } ] } ], "disease": [ { "disease_id": "MONDO:0859571", "recommended_name": { "id": "MONDO:0859571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859571", "name": "diaphragmatic hernia 4, with cardiovascular defects", "description": "" }, "synonyms": [ { "id": "MIM:620025", "resource": "MIM", "url": "https://www.omim.org/entry/620025", "name": "Diaphragmatic hernia 4, with cardiovascular defects", "description": "Diaphragmatic hernia 4, with cardiovascular defects" } ], "evidence": [ { "id": "620025", "database": "MIM", "url": "https://www.omim.org/entry/620025" } ] } ], "snv": [ { "evidence": [ { "id": "O94788", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94788" } ], "glycoeffect": [], "start_pos": 18, "end_pos": 18, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "58065599", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A18", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID: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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", 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"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": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94788", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94788" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O94788", "url": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "common_name": "Human" } ], "gene": [ { "name": "ALDH1A2", "url": "https://www.uniprot.org/uniprot/O94788", "locus": { "chromosome": "15", "start_pos": 57953424, "end_pos": 58497866, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000128918", "url": "https://www.ensembl.org/id/ENSG00000128918" } ] } } ], "crossref": [ { "id": "ENSG00000128918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128918", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O94788", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94788", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "1.2.1.36", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.2.1.36&UniProtAcc=O94788", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd07141", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07141", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3112384", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3112384", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ALDH1A2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH1A2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8854", "url": "https://www.ncbi.nlm.nih.gov/gene/8854", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "15472", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O94788", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94788*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR015590", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015590", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016160", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016161", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016161", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016162", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016162", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016163", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016163", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029510", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029510", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8854", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8854", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603687", "url": "http://www.omim.org/entry/603687", "database": "MIM", "categories": [ "Other" ] }, { "id": "620025", "url": "http://www.omim.org/entry/620025", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94788", "url": "https://www.nextprot.org/entry/NX_O94788", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94788", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94788", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WSNTFNK", "url": "https://omabrowser.org/oma/group/WSNTFNK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2291791at2759", "url": "http://www.orthodb.org/?query=2291791at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11699", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11699", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11699:SF102", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11699:SF102", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4X2Q", "url": "https://www.rcsb.org/structure/4X2Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ALJ", "url": "https://www.rcsb.org/structure/6ALJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6B5G", "url": "https://www.rcsb.org/structure/6B5G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6B5H", "url": "https://www.rcsb.org/structure/6B5H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6B5I", "url": "https://www.rcsb.org/structure/6B5I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00171", "url": "http://pfam.xfam.org/family/PF00171", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O94788", "url": "https://pharos.nih.gov/targets/O94788", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94788", "url": "http://purl.obolibrary.org/obo/PR_O94788", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "16177", "url": "https://www.rhea-db.org/rhea/16177", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "42080", "url": "https://www.rhea-db.org/rhea/42080", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "75119", "url": "https://www.rhea-db.org/rhea/75119", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0G2JL97", "url": "https://www.uniprot.org/uniprot/A0A0G2JL97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JL97-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JL97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PF31", "url": "https://www.uniprot.org/uniprot/E9PF31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PF31-1", "url": "https://www.uniprot.org/uniprot/E9PF31-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKL3", "url": "https://www.uniprot.org/uniprot/H0YKL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKL3-1", "url": "https://www.uniprot.org/uniprot/H0YKL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMG7", "url": "https://www.uniprot.org/uniprot/H0YMG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMG7-1", "url": "https://www.uniprot.org/uniprot/H0YMG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMT5", "url": "https://www.uniprot.org/uniprot/H0YMT5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YMT5-1", "url": "https://www.uniprot.org/uniprot/H0YMT5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94788-1", "url": "https://www.uniprot.org/uniprot/O94788-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94788-2", "url": "https://www.uniprot.org/uniprot/O94788-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94788-3", "url": "https://www.uniprot.org/uniprot/O94788-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94788-4", "url": "https://www.uniprot.org/uniprot/O94788-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UED3", "url": "https://www.uniprot.org/uniprot/Q9UED3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UED3-1", "url": "https://www.uniprot.org/uniprot/Q9UED3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS", "length": 518, "header": "sp|O94788-1|AL1A2_HUMAN Isoform 1 of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=3 CANONICAL=O94788-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JL97-1", "url": "", "sequence": { "sequence": "MDASERGRL", "length": 9, "header": "tr|A0A0G2JL97-1|AL1A2_HUMAN Computationally mapped isoform of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=1 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58013932, "end_pos": 58013906, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557967.5", "url": "https://www.ensembl.org/id/ENST00000557967.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454028.1", "url": "https://www.ensembl.org/id/ENSP00000454028.1" } ] } }, { "isoform_ac": "E9PF31-1", "url": "", "sequence": { "sequence": "MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKV", "length": 40, "header": "tr|E9PF31-1|AL1A2_HUMAN Computationally mapped isoform of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=2 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58065650, "end_pos": 58058106, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430119.6", "url": "https://www.ensembl.org/id/ENST00000430119.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000416754.2", "url": "https://www.ensembl.org/id/ENSP00000416754.2" } ] } }, { "isoform_ac": "H0YKL3-1", "url": "", "sequence": { "sequence": "MDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCG", "length": 85, "header": "tr|H0YKL3-1|AL1A2_HUMAN Computationally mapped isoform of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=1 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58013932, "end_pos": 57995090, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561070.5", "url": "https://www.ensembl.org/id/ENST00000561070.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452850.1", "url": "https://www.ensembl.org/id/ENSP00000452850.1" } ] } }, { "isoform_ac": "H0YMG7-1", "url": "", "sequence": { "sequence": "MKGRNWKTTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS", "length": 489, "header": "tr|H0YMG7-1|AL1A2_HUMAN Computationally mapped isoform of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=1 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58279203, "end_pos": 57955200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558231.5", "url": "https://www.ensembl.org/id/ENST00000558231.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453600.1", "url": "https://www.ensembl.org/id/ENSP00000453600.1" } ] } }, { "isoform_ac": "H0YMT5-1", "url": "", "sequence": { "sequence": "XGEFGLREYSEVKTVTVKIPQKNS", "length": 24, "header": "tr|H0YMT5-1|H0YMT5_HUMAN Computationally mapped isoform of Aldehyde dehydrogenase 1 family member A2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=1 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 57955269, "end_pos": 57955198, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558384.1", "url": "https://www.ensembl.org/id/ENST00000558384.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453734.1", "url": "https://www.ensembl.org/id/ENSP00000453734.1" } ] } }, { "isoform_ac": "O94788-1", "url": "", "sequence": { "sequence": "MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS", "length": 518, "header": "sp|O94788-1|AL1A2_HUMAN Isoform 1 of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=3 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58065650, "end_pos": 57955200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000249750.9", "url": "https://www.ensembl.org/id/ENST00000249750.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000249750.4", "url": "https://www.ensembl.org/id/ENSP00000249750.4" } ] } }, { "isoform_ac": "O94788-2", "url": "", "sequence": { "sequence": "MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS", "length": 480, "header": "sp|O94788-2|AL1A2_HUMAN Isoform 2 of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=3 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58065650, "end_pos": 57955200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000347587.7", "url": "https://www.ensembl.org/id/ENST00000347587.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000309623.3", "url": "https://www.ensembl.org/id/ENSP00000309623.3" } ] } }, { "isoform_ac": "O94788-3", "url": "", "sequence": { "sequence": "MKNQCETVWLKSPIKLKLIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS", "length": 497, "header": "sp|O94788-3|AL1A2_HUMAN Isoform 3 of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=3 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58058065, "end_pos": 57955200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537372.5", "url": "https://www.ensembl.org/id/ENST00000537372.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438296.1", "url": "https://www.ensembl.org/id/ENSP00000438296.1" } ] } }, { "isoform_ac": "O94788-4", "url": "", "sequence": { "sequence": "MDASERGRLLDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIKPAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFNQGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFGPVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS", "length": 422, "header": "sp|O94788-4|AL1A2_HUMAN Isoform 4 of Retinal dehydrogenase 2 OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=3 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58013932, "end_pos": 57955200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559517.5", "url": "https://www.ensembl.org/id/ENST00000559517.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453408.1", "url": "https://www.ensembl.org/id/ENSP00000453408.1" } ] } }, { "isoform_ac": "Q9UED3-1", "url": "", "sequence": { "sequence": "MDASERGRLLDKLADLVERDRAVLA", "length": 25, "header": "tr|Q9UED3-1|Q9UED3_HUMAN Computationally mapped isoform of RALDH2-T OS=Homo sapiens OX=9606 GN=ALDH1A2 PE=1 SV=1 CANONICAL=O94788-1" }, "locus": { "chromosome": "15", "start_pos": 58013932, "end_pos": 58013858, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558239.5", "url": "https://www.ensembl.org/id/ENST00000558239.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453292.1", "url": "https://www.ensembl.org/id/ENSP00000453292.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O94788", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94788" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 168, "end_pos": 168, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94788", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94788" } ], "site_lbl": "Tyr168" }, { "start_pos": 351, "end_pos": 351, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94788", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94788" } ], "site_lbl": "Ser351" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of retinol dehydrogenase transcripts expressed in human epidermal keratinocytes.", "journal": "Molecular genetics and metabolism", "date": "1999", "authors": "Jurukovski V, Markova NG, Karaman-Jurukovska N, Randolph RK, Su J, Napoli JL, Simon M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "10329026", "url": "https://glygen.org/publication/PubMed/10329026" } ] }, { "title": "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.", "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": "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": "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": "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", "url": "https://glygen.org/publication/PubMed/12680773" } ] }, { "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": "PubMed", "id": "14596915", "url": "https://glygen.org/publication/PubMed/14596915" } ] }, { "title": "Human retinol dehydrogenase 13 (RDH13) is a mitochondrial short-chain dehydrogenase/reductase with a retinaldehyde reductase activity.", "journal": "The FEBS journal", "date": "2008", "authors": "Belyaeva OV, Korkina OV, Stetsenko AV, Kedishvili NY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "18039331", "url": "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": "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": "Initiating meiosis: the case for retinoic acid.", "journal": "Biology of reproduction", "date": "2012-02", "authors": "Griswold Michael D, Hogarth Cathryn A, Bowles Josephine, Koopman Peter", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "reference": [ { "type": "PubMed", "id": "22075477", "url": "https://glygen.org/publication/PubMed/22075477" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" }, { "database": "iPTMnet", "id": "O94788", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94788" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "Structural Basis of ALDH1A2 Inhibition by Irreversible and Reversible Small Molecule Inhibitors.", "journal": "ACS chemical biology", "date": "2018", "authors": "Chen Y, Zhu JY, Hong KH, Mikles DC, Georg GI, Goldstein AS, Amory JK, Schonbrunn E", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "reference": [ { "type": "PubMed", "id": "29240402", "url": "https://glygen.org/publication/PubMed/29240402" } ] }, { "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": "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" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94788", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94788" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Peanut protein acts as a TH2 adjuvant by inducing RALDH2 in human antigen-presenting cells.", "journal": "The Journal of allergy and clinical immunology", "date": "2021", "authors": "Ruiter B, Smith NP, Fleming E, Patil SU, Hurlburt BK, Maleki SJ, Shreffler WG", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" } ], "reference": [ { "type": "PubMed", "id": "33378690", "url": "https://glygen.org/publication/PubMed/33378690" } ] }, { "title": "Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.", "journal": "Human mutation", "date": "2021-05", "authors": "Beecroft Sarah J, Ayala Marcos, McGillivray George, Nanda Vikas, Agolini Emanuele, Novelli Antonio, Digilio Maria C, Dotta Andrea, Carrozzo Rosalba, Clayton Joshua, Gaffney Lydia, McLean Catriona A, Ng Jessica, Laing Nigel G, Matteson Paul, Millonig James, Ravenscroft Gianina", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "reference": [ { "type": "PubMed", "id": "33565183", "url": "https://glygen.org/publication/PubMed/33565183" } ] }, { "title": "The Presence and Potential Role of ALDH1A2 in the Glioblastoma Microenvironment.", "journal": "Cells", "date": "2021", "authors": "Sanders S, Herpai DM, Rodriguez A, Huang Y, Chou J, Hsu FC, Seals D, Mott R, Miller LD, Debinski W", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" } ], "reference": [ { "type": "PubMed", "id": "34572134", "url": "https://glygen.org/publication/PubMed/34572134" } ] }, { "title": "An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.", "journal": "Journal of bone and mineral metabolism", "date": "2022", "authors": "Zhang D, Li Q, Zhang D, Yang X, Wang C, Zhang R, Yang X, Li Z, Xiong Y", "evidence": [ { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" } ], "reference": [ { "type": "PubMed", "id": "35059888", "url": "https://glygen.org/publication/PubMed/35059888" } ] }, { "title": "ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.", "journal": "American journal of medical genetics. Part A", "date": "2023-01", "authors": "Leon Eyby, Nde Claris, Ray Randall S, Preciado Diego, Zohn Irene E", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" }, { "database": "RefSeq", "id": "NP_001193826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193826" } ], "reference": [ { "type": "PubMed", "id": "36263470", "url": "https://glygen.org/publication/PubMed/36263470" } ] }, { "title": "Biological role of human cytosolic aldehyde dehydrogenase 1: hormonal response, retinal oxidation and implication in testicular feminization.", "journal": "Advances in experimental medicine and biology", "date": "1993", "authors": "Yoshida A, Hsu LC, Yanagawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "8493914", "url": "https://glygen.org/publication/PubMed/8493914" } ] }, { "title": "X-ray structure of human class IV sigmasigma alcohol dehydrogenase. 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Biol.", "date": "1998", "authors": "Ono Y, Fukuhara N, Yoshie O", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "reference": [ { "type": "PubMed", "id": "9819382", "url": "https://glygen.org/publication/PubMed/9819382" } ] } ], "pathway": [ { "id": "hsa:8854", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8854", "resource": "KEGG Pathway" }, { "id": "R-HSA-5365859", "name": "RA biosynthesis pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859", "resource": "Reactome", "description": "RA biosynthesis pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P40047-1", "protein_name": "Aldehyde dehydrogenase 5, mitochondrial", "gene_name": "ALD5", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": 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"pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "ureter maturation", "id": "GO:0035799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035799", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "9-cis-retinoic acid biosynthetic process", "id": "GO:0042904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042904", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "O94788", "url": "https://www.uniprot.org/uniprot/O94788" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": 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}, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 35 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }