{ "uniprot_canonical_ac": "Q07993-1", "uniprot_ac": "Q07993", "uniprot_id": "XYL2_YEAST", "mass": { "chemical_mass": 38600.0, "monoisotopic_mass": 38600.0 }, "refseq": { "ac": "NP_013171", "name": "D-xylulose reductase XYL2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013171" }, "gene_names": [ { "name": "XYL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q07993", "id": "Q07993" }, { "name": "XYL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013171", "id": "NP_013171" } ], "protein_names": [ { "name": "D-xylulose reductase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q07993" }, { "name": "1.1.1.9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q07993" }, { "name": "D-xylulose reductase XYL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013171", "id": "NP_013171" }, { "name": "XDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q07993" }, { "name": "Xylitol dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q07993" } ], "function": [], "disease": [ { "disease_id": "DOID:0081376", "recommended_name": { "id": "DOID:0081376", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081376", "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy", "description": "A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0081376", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081376", "name": "SORDD", "description": "" }, { "id": "MONDO:0030055", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030055", "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy", "description": "" }, { "id": "MONDO:0030055", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030055", "name": "SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY", "description": "" }, { "id": "MONDO:0030055", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030055", "name": "SORDD", "description": "" }, { "id": "MONDO:0030055", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030055", "name": "Sorbitol Dehydrogenase Deficiency", "description": "" }, { "id": "MONDO:0030055", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030055", "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy", "description": "" }, { "id": "MIM:618912", "resource": "MIM", "url": "https://www.omim.org/entry/618912", "name": "Sorbitol dehydrogenase deficiency with peripheral neuropathy", "description": "Sorbitol dehydrogenase deficiency with peripheral neuropathy" } ], "evidence": [ { "id": "0081376", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081376" } ] }, { "disease_id": "DOID:83", "recommended_name": { "id": "DOID:83", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision." }, "synonyms": [ { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1 multiple types", "description": "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CTRCT1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "Duffy linked cataract", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "GJA8 cataract (disease)", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract (disease) caused by mutation in GJA8", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CAE1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CZP1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "zonular pulverulent cataract 1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, Duffy-linked", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, zonular pulverulent, 1", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "early-onset non-syndromic cataract", "description": "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "cataract, age-related nuclear", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "nuclear sclerosis of the lens", "description": "" }, { "id": "MIM:116200", "resource": "MIM", "url": "https://www.omim.org/entry/116200", "name": "Cataract 1, multiple types", "description": "Cataract 1, multiple types" } ], "evidence": [ { "id": "83", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:83" } ] }, { "disease_id": "DOID:870", "recommended_name": { "id": "DOID:870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells." }, "synonyms": [ { "id": "DOID:870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:870", "name": "peripheral neuropathy", "description": "" } ], "evidence": [ { "id": "870", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:870" } ] }, { "disease_id": "DOID:9743", "recommended_name": { "id": "DOID:9743", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9743", "name": "diabetic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "9743", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "common_name": "Yeast" } ], "gene": [ { "name": "XYL2", "url": "https://www.uniprot.org/uniprot/Q07993", "locus": {} } ], "crossref": [ { "id": "1.1.1.9", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.1.1.9&UniProtAcc=Q07993", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd05285", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05285", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "850759", "url": "https://www.ncbi.nlm.nih.gov/gene/850759", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q07993", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q07993*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002328", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002328", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011032", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011032", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013149", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013149", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013154", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013154", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020843", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020843", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036291", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036291", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045306", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045306", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YLR070C", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YLR070C", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "CSVGRPN", "url": "https://omabrowser.org/oma/group/CSVGRPN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3017546at2759", "url": "http://www.orthodb.org/?query=3017546at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43161", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43161", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43161:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43161:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00107", "url": "http://pfam.xfam.org/family/PF00107", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08240", "url": "http://pfam.xfam.org/family/PF08240", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q07993", "url": "http://purl.obolibrary.org/obo/PR_Q07993", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_013171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013171", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000004060", "url": "https://www.yeastgenome.org/locus/S000004060", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q07993-1", "url": "https://www.uniprot.org/uniprot/Q07993-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTDLTTQEAIVLERPGKITLTNVSIPKISDPNEVIIQIKATGICGSDIHYYTHGRIANYVVESPMVLGHESSGIVALIGENVKTLKVGDRVALEPGIPDRFSPEMKEGRYNLDPNLKFAATPPFDGTLTKYYKTMKDFVYKLPDDVSFEEGALIEPLSVAIHANKLAKIKFGARCVVFGAGPIGLLAGKVASVFGAADVVFVDLLENKLETARQFGATHIVNSGDLPHGVTVDSVIKKAIGKKGADVVFECSGAEPCVRAGIEVCKAGGTIVQVGMGQEEIQFPISIIPTKELTFQGCFRYCQGDYSDSIELVSSRKLSLKPFITHRYSFKDAVEAFEETSHHPLNNIKTIIEGPE", "length": 356, "header": "sp|Q07993-1|XYL2_YEAST Isoform 1 of D-xylulose reductase OS=Saccharomyces cerevisiae S288C OX=559292 GN=XYL2 PE=1 SV=1 CANONICAL=Q07993-1" }, "isoforms": [ { "isoform_ac": "Q07993-1", "url": "", "sequence": { "sequence": "MTDLTTQEAIVLERPGKITLTNVSIPKISDPNEVIIQIKATGICGSDIHYYTHGRIANYVVESPMVLGHESSGIVALIGENVKTLKVGDRVALEPGIPDRFSPEMKEGRYNLDPNLKFAATPPFDGTLTKYYKTMKDFVYKLPDDVSFEEGALIEPLSVAIHANKLAKIKFGARCVVFGAGPIGLLAGKVASVFGAADVVFVDLLENKLETARQFGATHIVNSGDLPHGVTVDSVIKKAIGKKGADVVFECSGAEPCVRAGIEVCKAGGTIVQVGMGQEEIQFPISIIPTKELTFQGCFRYCQGDYSDSIELVSSRKLSLKPFITHRYSFKDAVEAFEETSHHPLNNIKTIIEGPE", "length": 356, "header": "sp|Q07993-1|XYL2_YEAST Isoform 1 of D-xylulose reductase OS=Saccharomyces cerevisiae S288C OX=559292 GN=XYL2 PE=1 SV=1 CANONICAL=Q07993-1" }, "locus": { "chromosome": "XII", "start_pos": 275211, "end_pos": 274144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "YLR070C_mRNA", "url": "https://www.ensembl.org/id/YLR070C_mRNA" }, { "database": "Ensembl Peptide", "id": "YLR070C", "url": "https://www.ensembl.org/id/YLR070C" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Evidence that the gene YLR070c of Saccharomyces cerevisiae encodes a xylitol dehydrogenase.", "journal": "FEBS Lett.", "date": "1999", "authors": "Richard P., Penttilae M., Toivari M.H.", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "reference": [ { "type": "PubMed", "id": "10486580", "url": "https://glygen.org/publication/PubMed/10486580" } ] }, { "title": "The reference genome sequence of Saccharomyces cerevisiae: Then and now.", "journal": "G3 (Bethesda)", "date": "2014", "authors": "Engel Stacia R, Dietrich Fred S, Fisk Dianna G, Binkley Gail, Balakrishnan Rama, Costanzo Maria C, Dwight Selina S, Hitz Benjamin C, Karra Kalpana, Nash Robert S, Weng Shuai, Wong Edith D, Lloyd Paul, Skrzypek Marek S, Miyasato Stuart R, Simison Matt, Cherry J Michael", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "reference": [ { "type": "PubMed", "id": "24374639", "url": "https://glygen.org/publication/PubMed/24374639" } ] }, { "title": "The nucleotide sequence of Saccharomyces cerevisiae chromosome XII.", "journal": "Nature", "date": "1997", "authors": "Ansorge W., Duesterhoeft A., Hillier L.W., Mewes H.-W., Obermaier B., Scharfe M., Wambutt R., Wedler H., Verhasselt P., Rose M., Benes V., Brueckner M., Rieger M., Portetelle D., Delius H., Schwarz S., Kleine K., Floeth M., Schwager C., Voss H., Hoheisel J.D., Dubois E., Volckaert G., Andre B., Koetter P., Entian K.-D., Louis E.J., Vandenbol M., Johnston M., Pohl T.M., Goffeau A., Hani J., Hilger F., Messenguy F., Miosga T., Mueller-Auer S., Scherens B., Zimmermann F.K., Zollner A., Purnelle B., Urrestarazu L.A., Vierendeels F., Voet M., Albermann K., Hebling U., Heumann K., Heuss-Neitzel D., Hilbert H., Moestl D., Nentwich U., Piravandi E., Rechmann S., Riles L., Rinke M., Scholler P., Underwood A.P., Wedler E.", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "reference": [ { "type": "PubMed", "id": "9169871", "url": "https://glygen.org/publication/PubMed/9169871" } ] } ], "pathway": [ { "id": "sce:YLR070C", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YLR070C", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "D-xylose metabolic process", "id": "GO:0042732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042732", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" }, { "name": "xylulose biosynthetic process", "id": "GO:0005999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005999", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" }, { "name": "sorbitol catabolic process", "id": "GO:0006062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006062", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" }, { "name": "L-arabinose catabolic process to xylulose 5-phosphate", "id": "GO:0019569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019569", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" }, { "name": "L-iditol 2-dehydrogenase activity", "id": "GO:0003939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003939", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" }, { "name": "D-xylulose reductase activity", "id": "GO:0046526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046526", "evidence": [ { "database": "UniProtKB", "id": "Q07993", "url": "https://www.uniprot.org/uniprot/Q07993" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 22, "end_pos": 24, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "20433", "name": "", "equation": "NAD(+) + xylitol = D-xylulose + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P27867-1", "Q00796-1", "Q64442-1", "P35497-1", "Q07786-1", "Q07993-1" ], "evidence": [ { "id": "20433", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20433" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P27867", "gene_name": "Sord", "activity": [ { "ec_number": "1.1.1.14", "activity": "L-iditol + NAD(+) = H(+) + keto-L-sorbose + NADH.", "evidence": [ { "id": "P27867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27867" } ] }, { "ec_number": "1.1.1.14", "activity": "", "evidence": [ { "id": "P27867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27867" } ] }, { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P27867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27867" } ] }, { "ec_number": "1.1.1.9", "activity": "NAD(+) + xylitol = D-xylulose + H(+) + NADH.", "evidence": [ { "id": "P27867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27867" } ] }, { "ec_number": "1.1.1.9", "activity": "", "evidence": [ { "id": "P27867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27867" } ] } ] }, { "uniprot_ac": "P35497", "gene_name": "SOR1", "activity": [ { "ec_number": "1.1.1.-", 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