{ "uniprot_canonical_ac": "A2VDF0-1", "ptm_annotation": [], "sequence": { "header": "sp|A2VDF0-1|FUCM_HUMAN Isoform 1 of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 154, "sequence": "MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" }, "uniprot_id": "FUCM_HUMAN", "enzyme_annotation": [ { "ec": "5.1.3.29", "activity": "Alpha-L-fucose = beta-L-fucose." }, { "ec": "5.1.3.29", "activity": "" } ], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19524593", "type": [ "PubMed" ], "id": "19524593" } ], "title": "Crystal structures and enzyme mechanisms of a dual fucose mutarotase/ribose pyranase.", "journal": "Journal of molecular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" } ], "authors": "Lee KH, Ryu KS, Kim MS, Suh HY, Ku B, Song YL, Ko S, Lee W, Oh BH", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17602138", "type": [ "PubMed" ], "id": "17602138" } ], "title": "Characterization and role of fucose mutarotase in mammalian cells.", "journal": "Glycobiology", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0", "id": "A2VDF0", "database": "UniProtKB" } ], "authors": "Choi D., Ryu K.S., Park D., Kwak J., Park C.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16385451", "type": [ "PubMed" ], "id": "16385451" } ], "title": "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" } ], "authors": "Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A", "date": "2006" } ], "uniprot_ac": "A2VDF0", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0#X6RK00-1", "isoform_ac": "X6RK00-1", "locus": { "end_pos": 133355373, "start_pos": 133357995, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000447176", "id": "ENST00000447176", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000413379", "id": "ENSP00000413379", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|X6RK00-1|FUCM_HUMAN Computationally mapped isoform of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 127, "sequence": "KGVPALLSPELLYALARMGHGDEIGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" } }, { "url": "https://www.uniprot.org/uniprot/A2VDF0#A2VDF0-2", "isoform_ac": "A2VDF0-2", "locus": { "end_pos": 133355502, "start_pos": 133358007, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000368552", "id": "ENST00000368552", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000357540", "id": "ENSP00000357540", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2VDF0-2|FUCM_HUMAN Isoform 2 of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 134, "sequence": "MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGC" } }, { "url": "https://www.uniprot.org/uniprot/A2VDF0#A2VDF0-1", "isoform_ac": "A2VDF0-1", "locus": { "end_pos": 133355373, "start_pos": 133358007, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000278025", "id": "ENST00000278025", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000278025", "id": "ENSP00000278025", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2VDF0-1|FUCM_HUMAN Isoform 1 of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=2 CANONICAL=A2VDF0-1", "length": 154, "sequence": "MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" } }, { "url": "https://www.uniprot.org/uniprot/A2VDF0#X6R6T9-1", "isoform_ac": "X6R6T9-1", "locus": { "end_pos": 133355373, "start_pos": 133357205, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000368551", "id": "ENST00000368551", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000357539", "id": "ENSP00000357539", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|X6R6T9-1|FUCM_HUMAN Computationally mapped isoform of Fucose mutarotase OS=Homo sapiens OX=9606 GN=FUOM PE=1 SV=1 CANONICAL=A2VDF0-1", "length": 109, "sequence": "MEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787639", "resource": "Reactome", "id": "R-HSA-6787639", "name": "GDP-fucose biosynthesis" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:282969", "resource": "KEGG Pathway", "id": "hsa:282969", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0#function", "annotation": "Involved in the interconversion between alpha- and beta-L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VDF0#function", "id": "A2VDF0", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091953.1", "id": "NP_001091953.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4ACG8-1", "protein_name": "Similar to RIKEN cDNA 1810014F10 gene (Predicted), isoform CRA_e", "sequence": { "length": 153, "sequence": "MVVLKGIPTVLSPELLFALARMGHGDEIVLADANFPTSSICQCGPIEIRADGLDIPQLLEAVLKLLPLDTYVESPAAVMDLVPSDKEKGLQTPIWDHYEYLLLKADCKKALRKIERFEFYERAKKAFAVVATGEMALYGNIILKKGTLDLGPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19598", "id": "19598", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2VDF0/", "id": "A2VDF0", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8R2K1-1", "protein_name": "Fucose mutarotase", "sequence": { "length": 153, "sequence": "MVALKGIPKVLSPELLFALARMGHGDEIVLADANFPTSSICQCGPVEIRADGLDIPQLLEAVLRLLPLDTYVESPAAVMDLVPSDKEKGLQTPIWKRYESLLLEADCKKTLMKLERFEFYERAKKAFAVVATGEMALYGNIILKKGTLDLGPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19598", "id": "19598", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2VDF0/", "id": "A2VDF0", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 66, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2VDF0", "id": "A2VDF0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 66, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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